Original Article
Recurring Mutations Found by Sequencing an Acute Myeloid Leukemia Genome
N Engl J Med 2009; 361:1058-1066September 10, 2009
- Abstract
Background
The full complement of DNA mutations that are responsible for the pathogenesis of acute myeloid leukemia (AML) is not yet known.
Methods
We used massively parallel DNA sequencing to obtain a very high level of coverage (approximately 98%) of a primary, cytogenetically normal, de novo genome for AML with minimal maturation (AML-M1) and a matched normal skin genome.
Results
We identified 12 acquired (somatic) mutations within the coding sequences of genes and 52 somatic point mutations in conserved or regulatory portions of the genome. All mutations appeared to be heterozygous and present in nearly all cells in the tumor sample. Four of the 64 mutations occurred in at least 1 additional AML sample in 188 samples that were tested. Mutations in NRAS and NPM1 had been identified previously in patients with AML, but two other mutations had not been identified. One of these mutations, in the IDH1 gene, was present in 15 of 187 additional AML genomes tested and was strongly associated with normal cytogenetic status; it was present in 13 of 80 cytogenetically normal samples (16%). The other was a nongenic mutation in a genomic region with regulatory potential and conservation in higher mammals; we detected it in one additional AML tumor. The AML genome that we sequenced contains approximately 750 point mutations, of which only a small fraction are likely to be relevant to pathogenesis.
Conclusions
By comparing the sequences of tumor and skin genomes of a patient with AML-M1, we have identified recurring mutations that may be relevant for pathogenesis.
Media in This Article
Figure 1
Flow Chart for Identification of Somatic Point Mutations in the Acute Myeloid Leukemia Genome.Figure 2
Allele Frequency in Tumor DNA, Tumor Complementary DNA, and Skin DNA.Article Activity
- Article
Acute myeloid leukemia (AML) is a clonal hematopoietic disease caused by both inherited and acquired genetic alterations.1-3 Current AML classification and prognostic systems incorporate genetic information but are limited to known abnormalities that have previously been identified with the use of cytogenetics, array comparative genomic hybridization (CGH), gene-expression profiling, and the resequencing of candidate genes (see the Glossary).
The karyotyping of AML cells remains the most powerful predictor of the outcome in patients with AML and is routinely used by clinicians.4,5 As an adjunct to cytogenetic studies, small subcytogenetic amplifications and deletions can be identified with the use of genomic methods, such as single-nucleotide-polymorphism (SNP) array and array CGH platforms (see the Glossary). However, these techniques remain investigational, and studies6-9 suggest that there are few recurrent acquired copy-number alterations in each AML genome. Gene-expression profiling has identified patients with known chromosomal lesions and genetic mutations and subgroups of patients with normal cytogenetic profiles who have variable clinical outcomes.10,11 Expression profiling has yielded single-gene predictors of outcome that are currently being evaluated for clinical use.12-16 Candidate-gene resequencing studies have also identified recurrent mutations in several genes — for example, genes encoding FMS-related tyrosine kinase 3 (FLT3) and nucleophosmin 1 (NPM1) — that can help to stratify patients with normal cytogenetic profiles according to risk and to identify patients for targeted therapy (e.g., those with mutated FLT3).3,12,17 However, the revised classification systems are imperfect, suggesting that important genetic factors for the pathogenesis of AML remain to be discovered.
We have previously described the sequence of an entire AML genome from a patient who had AML with minimal maturation (AML-M1) and a normal cytogenetic profile.18 Here we describe the genome sequence of another such tumor and recurring mutations in additional AML tumors.
Methods
Details regarding the methods for library production, DNA sequencing with the Illumina Genome Analyzer II,19 evaluation of sequence coverage, identification of sequence variants, validation of variants and determination of the prevalence of variants in the index AML tumor, and screening of additional AML samples are provided in the Supplementary Appendix, available with the full text of this article at NEJM.org. All the high-quality single-nucleotide variants (SNVs) that were found in tumor and skin samples from this patient are available in the database of genotypes and phenotypes (dbGaP) of the National Center for Biotechnology Information (accession number, phs000159.v1.p1).
Results
Case Report
A previously healthy 38-year-old man of European ancestry presented with fatigue and a cough. The white-cell count was 39,800 cells per cubic millimeter, with 97% blasts; the hemoglobin level was 8.9 g per deciliter, and the platelet count was 35,000 per cubic millimeter. A bone marrow examination revealed 90% cellularity and 86% myeloperoxidase-positive blasts (Figure 1 in the Supplementary Appendix). Routine cytogenetic analysis of bone marrow samples revealed a normal 46,XY karyotype. There was no family history of leukemia. The patient's mother had received the diagnosis of breast cancer at the age of 60 years and of non-Hodgkin's lymphoma at the age of 63 years; her half-sister had received the diagnosis of breast cancer at the age of 50 years.
Samples of the patient's bone marrow and skin were banked for whole-genome sequencing under a protocol approved by the institutional review board at Washington University. The patient provided written informed consent.
The patient was treated initially with a 7-day course of infusional cytarabine and with a 3-day course of daunorubicin. Within 5 weeks, he had complete morphologic remission and recovery of white-cell and platelet counts. The patient subsequently received consolidation therapy with four cycles of high-dose cytarabine without any further antileukemic therapy. He remained in complete remission 3 years later.
Characterization of the Tumor Genome
DNA samples from the patient's bone marrow sample at the time of initial presentation and a normal skin-biopsy specimen obtained after the patient's disease was in remission were labeled and genotyped with the use of the Affymetrix Genome-Wide Human SNP Array 6.0. The tumor genome had no detectable somatic copy-number alterations and no regions of partial uniparental disomy (Glossary, and Figure 2 in the Supplementary Appendix). RNA that was derived from the same bone marrow sample was analyzed with the use of the Affymetrix GeneChip Human Genome U133 Plus 2.0 array, which revealed an expression signature similar to that of many other cytogenetically normal marrow samples from patients with AML-M1 (Figure 2 in the Supplementary Appendix).
Sequence Coverage and Potential Mutations
We sequenced 69.9 billion base pairs (23.3× haploid coverage) from DNA libraries that we generated from the tumor sample and 63.9 billion base pairs from libraries that we generated from the normal skin sample (21.3× haploid coverage) (Glossary and Table 1Table 1
Sequence Coverage for Tumor and Skin Genomes.). Using Affymetrix 6.0 SNP arrays, we confirmed the detection of both alleles of 98.5% of the approximately 45,000 high-quality heterozygous SNPs in the tumor sample and 97.4% of the approximately 45,000 high-quality heterozygous SNPs in the skin sample.A summary of the sequence differences between the patient's tumor genome and National Center for Biotechnology Information build 36 of the human reference genome is shown in Figure 1Figure 1
Flow Chart for Identification of Somatic Point Mutations in the Acute Myeloid Leukemia Genome. (see the Glossary).20 We identified 3,872,936 SNVs in the tumor genome, of which 3,464,449 passed a stringent calling filter. Of these SNVs, 3,377,680 (97.5%) were detected in the skin genome, indicating that they were inherited variants. Of the 86,769 potentially novel somatic SNVs, 66,513 had been described previously.We binned the remaining 20,256 SNVs into four tiers, which are detailed in the Supplementary Appendix. Briefly, tier 1 contains all changes in the amino acid coding regions of annotated exons, consensus splice-site regions, and RNA genes (including microRNA genes). Tier 2 contains changes in highly conserved regions of the genome or regions that have regulatory potential. Tier 3 contains mutations in the nonrepetitive part of the genome that does not meet tier 2 criteria, and tier 4 contains mutations in the remainder of the genome. We tentatively identified 113 potential tier 1 mutations, 749 potential tier 2 mutations, 3188 potential tier 3 mutations, and 16,206 potential tier 4 mutations. For each of the 113 putative tier 1 variants, we amplified the genomic region containing the mutation from both tumor and skin, using a polymerase-chain-reaction (PCR) assay, and performed Sanger sequencing. Of the 101 variants that were called with low confidence (the calling algorithm is summarized in the Supplementary Appendix), none were validated. Of the high-confidence variants, 10 of 12 were validated as somatic mutations. Similarly, we tested 178 low-confidence calls for tier 2, and only one was validated. In contrast, 51 of 104 high-confidence tier 2 calls were validated. We did not carry out validation studies of variants in tiers 3 and 4.
We also searched for somatic insertions and deletions (indels) using an algorithm described in the Supplementary Appendix. We identified 142 potential somatic indels (28 deletions and 114 insertions). Of these variants, 119 failed validation (i.e., they were falsely positive) in Sanger sequencing of the relevant PCR products, 21 were validated but were present in both tumor and skin, and 2 were validated as somatic mutations. One was a 4-bp insertion in exon 12 of the NPM1 gene associated with aberrant cytoplasmic expression of nucleophosmin (NPMc). This insertion creates a frameshift mutation and a truncated protein that is known to have altered cellular localization, as described previously.21 The second mutation was a 3-bp insertion in the gene encoding centrosomal protein 170kDa (CEP170) at amino acid 177, predicted to result in the addition of a leucine residue at this position.
Tier 1 Mutations
The genes with tier 1 mutations and the consequences of these mutations are summarized in Table 2Table 2
Tier 1 Mutations., and in Table 1 in the Supplementary Appendix. Both the NPMc insertion and the NRAS mutation have been described previously in AML genomes, and both are known to be relevant for pathogenesis.3 Mutations in IDH1 (encoding isocitrate dehydrogenase 1), which are predicted to affect the arginine residue at position 132, are found in malignant gliomas but have not been reported in patients with AML and are rare in other tumor types.22-24 Variants of the nine other tier 1 genes are discussed in the Supplementary Appendix.Each of the 10 point mutations was amplified from tumor and skin samples by means of PCR, and the DNA species carrying the variant allele was assayed by sequencing the PCR products with the use of the Illumina platform. The entire experiment was replicated with amplified genomic DNA, with excellent concordance for all samples (Figure 3 in the Supplementary Appendix). The variant allele frequencies of the two insertions were determined by sequencing PCR products containing these mutations. The representation of all but two of the mutations — in chromosome 19 open reading frame 62 (C19orf62), an unannotated gene of unknown function, and CEP170 — was approximately 50%, suggesting that all the mutations were heterozygous and present in nearly all the cells in the tumor sample (Figure 2AFigure 2
Allele Frequency in Tumor DNA, Tumor Complementary DNA, and Skin DNA.). Ten of the 12 genes in tier 1 had probe sets on the Affymetrix U133 Plus 2.0 array, and 9 of 10 were detectably expressed (Table 1). We also assayed expression of the 10 nonsynonymous mutant alleles by means of reverse-transcriptase PCR, using amplicons designed to span introns, followed by sequencing and counting of the sequenced PCR products. Eight of the mutant alleles were detected at frequencies of 35 to 85%. However, for two of the mutations (in FREM2 and IMPG2) we did not detect complementary DNA carrying the variant allele (although we easily detected the wild-type allele), even though each variant was present in approximately 50% of the tumor DNA.The individual bases that were mutated were highly conserved for 10 of the 12 variants, and all but 1 were found in highly conserved regions of the genome. The Sorting Intolerant from Tolerant (SIFT) algorithm (which gauges the likely effect of genic mutations on protein function) predicted that the mutations in NRAS, IDH1, IMPG2, and ANKRD26 were deleterious.25 The splice-site mutation at the 3′ end of intron 4 of C19orf62 caused exon 5 to be skipped (data not shown).
We then genotyped the tier 1 mutations in 187 additional samples from patients with AML whose clinical characteristics have been described previously26 (Table 2 in the Supplementary Appendix). The NPMc mutation was previously shown to be present in 43 of 180 samples (23.9%), and activating NRAS mutations were present in 17 of 182 samples (9.3%).26 We observed mutations in IDH1, which were predicted to cause substitution of the arginine residue at position 132, in 16 of 188 samples: R132C in 8 samples, R132H in 7 samples, and R132S in 1 sample (Table 2 in the Supplementary Appendix). The other nine mutations were not detected in the 187 additional samples. We detected no R172 mutations in IDH2 in 188 samples (the sample from the index patient and the 187 additional samples), nor did we observe additional mutations in any of the exons of IDH1 or CDC42.
A nonsynonymous acquired mutation (C328Y) was found in the mitochondrial gene ND4, which encodes NADH dehydrogenase subunit 4, a part of complex 1 of the electron transport chain. Two of 93 additional AML samples also had nonsynonymous mutations in this gene, but the importance of these mutations is not yet clear (Table 5 and the Results and Discussion section in the Supplementary Appendix).
Tier 2 Mutations
We confirmed 52 mutations in tier 2. DNA segments, each containing 1 of the 52 mutations, were PCR-amplified from the tumor and skin samples and sequenced to determine the proportion of DNA molecules carrying the mutation (Figure 2B, and Table 4 in the Supplementary Appendix). Three of these tier 2 mutations had variant frequencies of approximately 98%, and all were located on chromosome X or Y. Because only a single copy of these chromosomes was present in this male genome, the high representation of these three tier 2 mutations was consistent with the finding that an extremely high percentage of cells within the bone marrow sample were part of the malignant clone. One mutation (chromosome 4 at position 128,102,994) had a variant read frequency of approximately 78%, and we observed no somatic microamplification or deletion near this variant. Of the tier 2 mutations, 39 were present in approximately 50% of DNA species, and 9 were present in approximately 40%. We genotyped the 52 tier 2 mutations in 187 additional AML samples and detected the presence of just 1 of the mutations (on chromosome 10) in 1 other AML sample, from a patient with myelomonocytic leukemia (AML-M4), which bore a translocation and did not have a paired normal sample (Table 2 in the Supplementary Appendix). The proportion of DNA species in this sample that carried the mutation was 54%, suggesting that it was heterozygous.
Patients with the IDH1 Mutation
Of the 16 patients who had AML with an IDH1 R132 mutation, 13 had tumors with normal cytogenetic profiles (of a total of 80 cytogenetically normal samples [16%]), 2 had trisomy 8, and 1 had trisomy 13. Ten of the 16 patients had AML-M1, three had AML with maturation (AML-M2), and three had AML-M4. The characteristics of patients with and those without the IDH1 mutation are shown in Table 3Table 3
Characteristics of the Patients, According to IDH1 Genotype., and in Table 2 and Table 3 in the Supplementary Appendix. The mutation was detected only in patients with cytogenetic profiles associated with intermediate risk (P<0.001).4,5 Although the patients who were analyzed in this study were not treated with a single uniform protocol, outcome data were available for all 188 patients (Table 2 in the Supplementary Appendix). IDH1 mutational status did not have independent prognostic value with respect to overall survival in multivariate analysis; subgroup analysis showed a possible adverse effect on overall survival among patients with normal-karyotype AML and wild-type NPM1, regardless of FLT3 status (Figure 4 in the Supplementary Appendix).Discussion
Our findings support the use of an unbiased sequencing approach to discover previously unsuspected, recurring mutations in a cancer genome. With improved sequencing techniques, we covered this genome more completely than the first one we sequenced (98% vs. 91% diploid coverage) and used fewer sequencing runs (16.5 vs. 98), resulting in a dramatically reduced cost of data generation. With better data quality and calling algorithms, we reduced the 96% false positive frequency of possible mutations for the first sequenced AML genome to a frequency of 47% of the high-confidence tier 1 and 2 mutations called in this genome. We predicted 1458 tumor-specific point mutations with high confidence; we tested 116 of these with validation sequencing and confirmed 61 of them (53%). Thus, this genome may contain approximately 750 somatic point mutations. We detected mutations in NRAS, NPMc, and IDH1 and a tier 2 mutation on chromosome 10 in more than one AML genome, suggesting that these mutations are not random and are probably important for the pathogenesis of this tumor.
We suggest that the 12 nonsynonymous mutations are the most likely to be relevant for pathogenesis, since they could potentially alter the function of expressed genes. Consistent with this idea and with the results of our previous study18 is the finding that all these mutations were retained in the dominant clone. Surprisingly, we found that virtually all the 52 tier 2 mutations were also present in nearly every tumor cell in the sample, suggesting that they are also a part of the same dominant clone. However, one cannot conclude that these mutations (or any of the tier 3 or 4 mutations) are relevant for pathogenesis simply because they are found at a high frequency in the dominant clone. It is more likely that most of these mutations are random, benign sequence changes that existed in the hematopoietic cell that was transformed (i.e., they were preexisting and carried along as benign “passengers,” irrelevant for pathogenesis). The finding that the percentage of mutations found in each tier closely approximated the total amount of DNA assayed in that tier supports this hypothesis. Collectively, these data suggest that the vast majority of the mutations that we detected in this genome are random, background mutations in the hematopoietic stem cell that was transformed.27 Functional validation will be required to prove which mutations are truly important.
The best test of the relevance of individual mutations for pathogenesis (in the absence of functional validation) is recurrence in other AML samples or other cancers. Of the 12 tier 1 mutations, 3 (occurring in NPM1, NRAS, and IDH1) were recurrent in patients with AML and therefore were likely to be important in the pathogenesis of this tumor. R132 mutations in the IDH1 gene had not previously been detected in the 45 patients with AML who were tested23 and are detected only rarely in tumor types other than malignant gliomas.22,24 The IDH1 R132H, C, and S mutations dramatically reduce the catalytic activity of the IDH1 enzyme; it has been suggested that IDH1 is a tumor suppressor that is inactivated by dominant mutations in R132.28 There are significant differences, however, between the IDH1 mutations found in gliomas and those in AML. We detected the R132C mutation in 8 of 16 patients with AML who carried an IDH1 mutation (50%). In contrast, the mutation was reported in only 7 of 161 patients with gliomas (4%, P<0.001 by Fisher's exact test). The most common mutation in gliomas (R132H) was detected in 142 of 161 patients (88%) but in only 7 of 16 patients with AML (44%, P=0.13). When the R132H mutation was overexpressed in a glioblastoma cell line, induction of messenger RNAs for several target genes of hypoxia-inducible factor 1α (HIF1α) was detected (GLUT1, VEGF, and PGK1).28 However, in 13 patients with AML — 5 with R132H and 8 with R132C — there were no significant alterations in the expression of any of these genes (Figure 3 in the Supplementary Appendix).
Assuming that the number of point mutations in most AML genomes is similar to the number in the first 2 patients we studied (approximately 750), the likelihood that 2 of 188 patients will carry an identical mutation at the same position in the genome is extremely small (1.1×10−9). This suggests that the tier 2 somatic mutation at position 108,115,590 of chromosome 10 is unlikely to be a random event. It falls in a conserved region with regulatory potential, and its detection in a second patient with AML suggests that this region may contribute to pathogenesis through a novel mechanism that remains to be defined.
Although the potential of next-generation sequencing platforms for uncovering the genetic rules of cancer is great, the sequencing of thousands of additional cancer genomes will be required to fully unravel this complex and heterogeneous disease.29,30
Supported by grants from the National Institutes of Health (PO1-CA101937, to Dr. Ley; and U54-HG003079, to Dr. Wilson) and the Barnes–Jewish Hospital Foundation (00335-0505-01, to Dr. Ley).
Dr. Westervelt reports receiving lecture fees from Celgene and Novartis; and Dr. DiPersio, receiving consulting and lecture fees from Genzyme.
No other potential conflict of interest relevant to this article was reported.
This article (10.1056/NEJMoa0903840) was published on August 5, 2009, at NEJM.org.
We thank Jennifer Ivanovich for obtaining the detailed family histories of the patients; Nancy Reidelberger for administrative support; Dr. Rob Culverhouse for statistical support; Todd Hepler, William Schroeder, Justin Lolofie, Scott Abbott, Shawn Leonard, Ken Swanson, Indraniel Das, and Michael Kiwala for their contributions to the Laboratory Information Management System; Gary Stiehr, Richard Wohlstadter, Matt Weil, and Kelly Fallon for information-technology support; Drs. Clara Bloomfield, Michael Caligiuri, and James Vardiman for providing the AML samples from the Cancer and Leukemia Group B Leukemia Bank; the nursing staff of the Siteman Cancer Center and Barnes–Jewish Hospital; and all the patients who participated in the study.
Source Information
From the Departments of Genetics (E.R.M., L.D., V.J.M., R.K.W., T.J.L.), Medicine (R.E.R., P.W., M.H.T., S.H., W.D.S., D.C.L., M.J.W., T.A.G., J.F.D., T.J.L.), and Pathology and Immunology (J.E.P., M.A.W., R.N.); the Genome Center (E.R.M., L.D., D.J.D., D.E.L., M.D.M., K.C., D.C.K., R.S.F., K.D.D., S.D.M., L.A.F., D.P.L., V.J.M., R.M.A., T.L.V., J.S. Reed, J.S. Robinson, T.W., S.M.S., L.C., J.M.E., C.C.H., J.W., J.B.P., F.D., A.F.D., G.E.S., A.M.B., E.C., J.F.M., R.J.M., J.K.S., C.S.P., J.W.W., X.S., L.L., H.S., Y.T., C.H., M.E.W., J.V.I., J.K., G.E., M.A.W., R.K.W., T.J.L.); Siteman Cancer Center (P.W., M.H.T., M.A.W., S.H., W.D.S., R.N., D.C.L., M.J.W., T.A.G., J.F.D., R.K.W., T.J.L.); and the Division of Biostatistics (J.B.) — all at Washington University, St. Louis.
Address reprint requests to Dr. Ley at Washington University, 660 S. Euclid Ave., Campus Box 8007, St. Louis, MO 63110, or at timley@wustl.edu.
- References
References
1
Song WJ ,Sullivan MG ,Legare RD , et al. Haploinsufficiency of CBFA2 causes familial thrombocytopenia with propensity to develop acute myelogenous leukaemia. Nat Genet 1999;23:166-175
CrossRef | Web of Science | Medline2
Owen C ,Barnett M ,Fitzgibbon J . Familial myelodysplasia and acute myeloid leukaemia -- a review. Br J Haematol 2008;140:123-132
CrossRef | Web of Science | Medline3
Schlenk RF ,Doohner K ,Krauter J , et al. Mutations and treatment outcome in cytogenetically normal acute myeloid leukemia. N Engl J Med 2008;358:1909-1918
Full Text | Web of Science | Medline4
Byrd JC ,Mrozek K ,Dodge RK , et al. Pretreatment cytogenetic abnormalities are predictive of induction success, cumulative incidence of relapse, and overall survival in adult patients with de novo acute myeloid leukemia: results from Cancer and Leukemia Group B (CALGB 8461). Blood 2002;100:4325-4336
CrossRef | Web of Science | Medline5
Grimwade D ,Walker H ,Harrison G , et al. The predictive value of hierarchical cytogenetic classification in older adults with acute myeloid leukemia (AML): analysis of 1065 patients entered into the United Kingdom Medical Research Council AML11 trial. Blood 2001;98:1312-1320
CrossRef | Web of Science | Medline6
Rucker FG ,Bullinger L ,Schwaenen C , et al. Disclosure of candidate genes in acute myeloid leukemia with complex karyotypes using microarray-based molecular characterization. J Clin Oncol 2006;24:3887-3894
CrossRef | Web of Science | Medline7
Suela J ,Alvarez S ,Cifuentes F , et al. DNA profiling analysis of 100 consecutive de novo acute myeloid leukemia cases reveals patterns of genomic instability that affect all cytogenetic risk groups. Leukemia 2007;21:1224-1231
CrossRef | Web of Science | Medline8
Tyybakinoja A ,Elonen E ,Piippo K ,Porkka K ,Knuutila S . Oligonucleotide array-CGH reveals cryptic gene copy number alterations in karyotypically normal acute myeloid leukemia. Leukemia 2007;21:571-574
CrossRef | Web of Science | Medline9
Walter MJ, Payton JE, Ries RE, et al. Acquired copy number alterations in adult acute myeloid leukemia genomes. Proc Natl Acad Sci U S A (in press).
10
Bullinger L ,Dohner K ,Bair E , et al. Use of gene-expression profiling to identify prognostic subclasses in adult acute myeloid leukemia. N Engl J Med 2004;350:1605-1616
Full Text | Web of Science | Medline11
Valk PJ ,Verhaak RG ,Beijen MA , et al. Prognostically useful gene-expression profiles in acute myeloid leukemia. N Engl J Med 2004;350:1617-1628
Full Text | Web of Science | Medline12
Baldus CD ,Mrozek K ,Marcucci G ,Bloomfield CD . Clinical outcome of de novo acute myeloid leukaemia patients with normal cytogenetics is affected by molecular genetic alterations: a concise review. Br J Haematol 2007;137:387-400
CrossRef | Web of Science | Medline13
Heuser M ,Beutel G ,Krauter J , et al. High meningioma 1 (MN1) expression as a predictor for poor outcome in acute myeloid leukemia with normal cytogenetics. Blood 2006;108:3898-3905
CrossRef | Web of Science | Medline14
Langer C ,Radmacher MD ,Ruppert AS , et al. High BAALC expression associates with other molecular prognostic markers, poor outcome, and a distinct gene-expression signature in cytogenetically normal patients younger than 60 years with acute myeloid leukemia: a Cancer and Leukemia Group B (CALGB) study. Blood 2008;111:5371-5379
CrossRef | Web of Science | Medline15
Lugthart S ,van Drunen E ,van Norden Y , et al. High EVI1 levels predict adverse outcome in acute myeloid leukemia: prevalence of EVI1 overexpression and chromosome 3q26 abnormalities underestimated. Blood 2008;111:4329-4337
CrossRef | Web of Science | Medline16
Marcucci G ,Maharry K ,Whitman SP , et al. High expression levels of the ETS-related gene, ERG, predict adverse outcome and improve molecular risk-based classification of cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study. J Clin Oncol 2007;25:3337-3343
CrossRef | Web of Science | Medline17
Pratz K ,Levis M . Incorporating FLT3 inhibitors into acute myeloid leukemia treatment regimens. Leuk Lymphoma 2008;49:852-863
CrossRef | Web of Science | Medline18
Ley TJ ,Mardis ER ,Ding L , et al. DNA sequencing of a cytogenetically normal acute myeloid leukaemia genome. Nature 2008;456:66-72
CrossRef | Web of Science | Medline19
Bentley DR ,Balasubramanian S ,Swerdlow HP , et al. Accurate whole human genome sequencing using reversible terminator chemistry. Nature 2008;456:53-59
CrossRef | Web of Science | Medline20
Li H ,Ruan J ,Durbin R . Mapping short DNA sequencing reads and calling variants using mapping quality scores. Genome Res 2008;18:1851-1858
CrossRef | Web of Science | Medline21
Falini B ,Mecucci C ,Tiacci E , et al. Cytoplasmic nucleophosmin in acute myelogenous leukemia with a normal karyotype. N Engl J Med 2005;352:254-266[Erratum, N Engl J Med 2005;352:740.]
Full Text | Web of Science | Medline22
Bleeker FE ,Lamba S ,Leenstra S , et al. IDH1 mutations at residue p.R132 (IDH1(R132)) occur frequently in high-grade gliomas but not in other solid tumors. Hum Mutat 2009;30:7-11
CrossRef | Web of Science | Medline23
Yan H ,Parsons DW ,Jin G , et al. IDH1 and IDH2 mutations in gliomas. N Engl J Med 2009;360:765-773
Full Text | Web of Science | Medline24
Kang MR ,Kim MS ,Oh JE , et al. Mutational analysis of IDH1 codon 132 in glioblastomas and other common cancers. Int J Cancer 2009;125:353-355
CrossRef | Web of Science | Medline25
Ng PC ,Henikoff S . Accounting for human polymorphisms predicted to affect protein function. Genome Res 2002;12:436-446
CrossRef | Web of Science | Medline26
Link DC ,Kunter G ,Kasai Y , et al. Distinct patterns of mutations occurring in de novo AML versus AML arising in the setting of severe congenital neutropenia. Blood 2007;110:1648-1655
CrossRef | Web of Science | Medline27
Sjoblom T ,Jones S ,Wood LD , et al. The consensus coding sequences of human breast and colorectal cancers. Science 2006;314:268-274
CrossRef | Web of Science | Medline28
Zhao S ,Lin Y ,Xu W , et al. Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1alpha. Science 2009;324:261-265
CrossRef | Web of Science | Medline29
Dulbecco R . A turning point in cancer research: sequencing the human genome. Science 1986;231:1055-1056
CrossRef | Web of Science | Medline30
Stratton MR ,Campbell PJ ,Futreal PA . The cancer genome. Nature 2009;458:719-724
CrossRef | Web of Science | Medline
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Alexander Kühn, Hans Lehrach. (2012) The “Virtual Patient” system: modeling cancer using deep sequencing technologies for personalized cancer treatment. Journal für Verbraucherschutz und Lebensmittelsicherheit
CrossRef14
A Renneville, N Boissel, O Nibourel, C Berthon, N Helevaut, C Gardin, J-M Cayuela, S Hayette, O Reman, N Contentin, D Bordessoule, C Pautas, S de Botton, T de Revel, C Terre, P Fenaux, X Thomas, S Castaigne, H Dombret, C Preudhomme. (2012) Prognostic significance of DNA methyltransferase 3A mutations in cytogenetically normal acute myeloid leukemia: a study by the Acute Leukemia French Association. Leukemia
CrossRef15
F. Buccisano, L. Maurillo, M. I. Del Principe, G. Del Poeta, G. Sconocchia, F. Lo-Coco, W. Arcese, S. Amadori, A. Venditti. (2012) Prognostic and therapeutic implications of minimal residual disease detection in acute myeloid leukemia. Blood 119:2, 332-341
CrossRef16
O. C. Andronesi, G. S. Kim, E. Gerstner, T. Batchelor, A. A. Tzika, V. R. Fantin, M. G. Vander Heiden, A. G. Sorensen. (2012) Detection of 2-Hydroxyglutarate in IDH-Mutated Glioma Patients by In Vivo Spectral-Editing and 2D Correlation Magnetic Resonance Spectroscopy. Science Translational Medicine 4:116, 116ra4-116ra4
CrossRef17
Li Ding, Timothy J. Ley, David E. Larson, Christopher A. Miller, Daniel C. Koboldt, John S. Welch, Julie K. Ritchey, Margaret A. Young, Tamara Lamprecht, Michael D. McLellan, Joshua F. McMichael, John W. Wallis, Charles Lu, Dong Shen, Christopher C. Harris, David J. Dooling, Robert S. Fulton, Lucinda L. Fulton, Ken Chen, Heather Schmidt, Joelle Kalicki-Veizer, Vincent J. Magrini, Lisa Cook, Sean D. McGrath, Tammi L. Vickery, Michael C. Wendl, Sharon Heath, Mark A. Watson, Daniel C. Link, Michael H. Tomasson, William D. Shannon, Jacqueline E. Payton, Shashikant Kulkarni, Peter Westervelt, Matthew J. Walter, Timothy A. Graubert, Elaine R. Mardis, Richard K. Wilson, John F. DiPersio. (2012) Clonal evolution in relapsed acute myeloid leukaemia revealed by whole-genome sequencing. Nature
CrossRef18
Yin-jun Lou. (2012) Novel targeted therapy for acute myeloid leukemia with a dual FLT3 and JAK2 inhibitor. Acta Pharmacologica Sinica
CrossRef19
Alexandra Borodovsky, Meghan J. Seltzer, Gregory J. Riggins. (2012) Altered cancer cell metabolism in gliomas with mutant IDH1 or IDH2. Current Opinion in Oncology 24:1, 83-89
CrossRef20
Alan Hodgkinson, Ying Chen, Adam Eyre-Walker. (2012) The large-scale distribution of somatic mutations in cancer genomes. Human Mutation 33:1, 136-143
CrossRef21
Parvin F. Peddi, Matthew J. Ellis, Cynthia Ma. (2012) Molecular Basis of Triple Negative Breast Cancer and Implications for Therapy. International Journal of Breast Cancer 2012, 1-7
CrossRef22
Eric D Perakslis, John Shon. (2012) Translational informatics in personalized medicine. Personalized Medicine 9:1, 39-45
CrossRef23
M. D'Antonio, V. Pendino, S. Sinha, F. D. Ciccarelli. (2012) Network of Cancer Genes (NCG 3.0): integration and analysis of genetic and network properties of cancer genes. Nucleic Acids Research 40:D1, D978-D983
CrossRef24
Michael Chapman, Edus H. Warren, Catherine J. Wu. (2012) Applications of Next-Generation Sequencing to Blood and Marrow Transplantation. Biology of Blood and Marrow Transplantation 18:1, S151-S160
CrossRef25
S Le Scouarnec, S M Gribble. (2012) Characterising chromosome rearrangements: recent technical advances in molecular cytogenetics. Heredity 108:1, 75-85
CrossRef26
Akitake Mukasa, Shunsaku Takayanagi, Kuniaki Saito, Junji Shibahara, Yusuke Tabei, Kazuhide Furuya, Takafumi Ide, Yoshitaka Narita, Ryo Nishikawa, Keisuke Ueki, Nobuhito Saito. (2012) Significance of IDH mutations varies with tumor histology, grade, and genetics in Japanese glioma patients. Cancer Scienceno-no
CrossRef27
M M Patnaik, C A Hanson, J M Hodnefield, T L Lasho, C M Finke, R A Knudson, R P Ketterling, A Pardanani, A Tefferi. (2012) Differential prognostic effect of IDH1 versus IDH2 mutations in myelodysplastic syndromes: a Mayo Clinic Study of 277 patients. Leukemia 26:1, 101-105
CrossRef28
Hady Ghanem, Niki Tank, Imad A. Tabbara. (2012) Prognostic implications of genetic aberrations in acute myelogenous leukemia with normal cytogenetics. American Journal of Hematology 87:1, 69-77
CrossRef29
Ulrike Bacher, Julie-An Talano, Michael R. Bishop. (2012) Monitoring and Prevention of Relapse after Allogeneic Hematopoietic Cell Transplantation for Myeloid Malignancies. Biology of Blood and Marrow Transplantation 18:1, S62-S73
CrossRef30
Amir T. Fathi, Omar Abdel-Wahab. (2012) Mutations in Epigenetic Modifiers in Myeloid Malignancies and the Prospect of Novel Epigenetic-Targeted Therapy. Advances in Hematology 2012, 1-12
CrossRef31
Xosé M. Fernández-Suárez. (2012) Analyzing genomic data: understanding the genome. Wiley Interdisciplinary Reviews: Data Mining and Knowledge Discoveryn/a-n/a
CrossRef32
Jen-Yang Tang, Chun-Chi Chang, Pei-Chin Lin, Jan-Gowth Chang. (2012) Isocitrate dehydrogenase mutation hot spots in acute lymphoblastic leukemia and oral cancer. The Kaohsiung Journal of Medical Sciences
CrossRef33
Jacqueline A. Brosnan, Christine A. Iacobuzio-Donahue. (2012) A new branch on the tree: Next-generation sequencing in the study of cancer evolution. Seminars in Cell & Developmental Biology
CrossRef34
Eric K. Oermann, Jing Wu, Kun-Liang Guan, Yue Xiong. (2012) Alterations of Metabolic Genes and Metabolites in Cancer. Seminars in Cell & Developmental Biology
CrossRef35
Yuejun Fu, Shuhua Zheng, Yali Zheng, Rui Huang, Na An, Aihua Liang, Changchen Hu. (2012) Glioma derived isocitrate dehydrogenase-2 mutations induced up-regulation of HIF-1α and β-catenin signaling: Possible impact on glioma cell metastasis and chemo-resistance. The International Journal of Biochemistry & Cell Biology
CrossRef36
Xi Lin, Wenxue Tang, Shoeb Ahmad, Jingqiao Lu, Candice C. Colby, Jason Zhu, Qing Yu. (2012) Applications of targeted gene capture and next-generation sequencing technologies in studies of human deafness and other genetic disabilities. Hearing Research
CrossRef37
Thomas Mercher, Cyril Quivoron, Lucile Couronné, Christian Bastard, William Vainchenker, Olivier A. Bernard. (2012) TET2, a tumor suppressor in hematological disorders. Biochimica et Biophysica Acta (BBA) - Reviews on Cancer
CrossRef38
Wang, Lili, Lawrence, Michael S., Wan, Youzhong, Stojanov, Petar, Sougnez, Carrie, Stevenson, Kristen, Werner, Lillian, Sivachenko, Andrey, DeLuca, David S., Zhang, Li, Zhang, Wandi, Vartanov, Alexander R., Fernandes, Stacey M., Goldstein, Natalie R., Folco, Eric G., Cibulskis, Kristian, Tesar, Bethany, Sievers, Quinlan L., Shefler, Erica, Gabriel, Stacey, Hacohen, Nir, Reed, Robin, Meyerson, Matthew, Golub, Todd R., Lander, Eric S., Neuberg, Donna, Brown, Jennifer R., Getz, Gad, Wu, Catherine J., . (2011) SF3B1 and Other Novel Cancer Genes in Chronic Lymphocytic Leukemia. New England Journal of Medicine 365:26, 2497-2506
Full Text39
Sergey I Nikolaev, Donata Rimoldi, Christian Iseli, Armand Valsesia, Daniel Robyr, Corinne Gehrig, Keith Harshman, Michel Guipponi, Olesya Bukach, Vincent Zoete, Olivier Michielin, Katja Muehlethaler, Daniel Speiser, Jacques S Beckmann, Ioannis Xenarios, Thanos D Halazonetis, C Victor Jongeneel, Brian J Stevenson, Stylianos E Antonarakis. (2011) Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. Nature Genetics
CrossRef40
Vladimir Trifonov, Laura Pasqualucci, Riccardo Dalla-Favera, Raul Rabadan. (2011) Fractal-like Distributions over the Rational Numbers in High-throughput Biological and Clinical Data. Scientific Reports 1,
CrossRef41
C. M. McHale, L. Zhang, M. T. Smith. (2011) Current understanding of the mechanism of benzene-induced leukemia in humans: implications for risk assessment. Carcinogenesis
CrossRef42
Timothy A Graubert, Dong Shen, Li Ding, Theresa Okeyo-Owuor, Cara L Lunn, Jin Shao, Kilannin Krysiak, Christopher C Harris, Daniel C Koboldt, David E Larson, Michael D McLellan, David J Dooling, Rachel M Abbott, Robert S Fulton, Heather Schmidt, Joelle Kalicki-Veizer, Michelle O'Laughlin, Marcus Grillot, Jack Baty, Sharon Heath, John L Frater, Talat Nasim, Daniel C Link, Michael H Tomasson, Peter Westervelt, John F DiPersio, Elaine R Mardis, Timothy J Ley, Richard K Wilson, Matthew J Walter. (2011) Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes. Nature Genetics 44:1, 53-57
CrossRef43
D. E. Larson, C. C. Harris, K. Chen, D. C. Koboldt, T. E. Abbott, D. J. Dooling, T. J. Ley, E. R. Mardis, R. K. Wilson, L. Ding. (2011) SomaticSniper: Identification of Somatic Point Mutations in Whole Genome Sequencing Data. Bioinformatics
CrossRef44
Gunnar Juliusson, Tamar Tadmor, Aaron Polliack. (2011) ‘Hairy’ cells: where are the roots of this leukemia?. Leukemia & Lymphoma 52:12, 2205-2206
CrossRef45
Edouard Mullarky, Katherine R. Mattaini, Matthew G. Vander Heiden, Lewis C. Cantley, Jason W. Locasale. (2011) PHGDH amplification and altered glucose metabolism in human melanoma. Pigment Cell & Melanoma Research 24:6, 1112-1115
CrossRef46
L. V. Sequist, R. S. Heist, A. T. Shaw, P. Fidias, R. Rosovsky, J. S. Temel, I. T. Lennes, S. Digumarthy, B. A. Waltman, E. Bast, S. Tammireddy, L. Morrissey, A. Muzikansky, S. B. Goldberg, J. Gainor, C. L. Channick, J. C. Wain, H. Gaissert, D. M. Donahue, A. Muniappan, C. Wright, H. Willers, D. J. Mathisen, N. C. Choi, J. Baselga, T. J. Lynch, L. W. Ellisen, M. Mino-Kenudson, M. Lanuti, D. R. Borger, A. J. Iafrate, J. A. Engelman, D. Dias-Santagata. (2011) Implementing multiplexed genotyping of non-small-cell lung cancers into routine clinical practice. Annals of Oncology 22:12, 2616-2624
CrossRef47
Changcun Guo, Christopher J. Pirozzi, Giselle Y. Lopez, Hai Yan. (2011) Isocitrate dehydrogenase mutations in gliomas. Current Opinion in Neurology 24:6, 648-652
CrossRef48
David Grimwade, Krzysztof Mrózek. (2011) Diagnostic and Prognostic Value of Cytogenetics in Acute Myeloid Leukemia. Hematology/Oncology Clinics of North America 25:6, 1135-1161
CrossRef49
Chezi Ganzel, Jacob M. Rowe. (2011) Prognostic Factors in Adult Acute Leukemia. Hematology/Oncology Clinics of North America 25:6, 1163-1187
CrossRef50
V. Grossmann, E. Tiacci, A. B. Holmes, A. Kohlmann, M. P. Martelli, W. Kern, A. Spanhol-Rosseto, H.-U. Klein, M. Dugas, S. Schindela, V. Trifonov, S. Schnittger, C. Haferlach, R. Bassan, V. A. Wells, O. Spinelli, J. Chan, R. Rossi, S. Baldoni, L. De Carolis, K. Goetze, H. Serve, R. Peceny, K.-A. Kreuzer, D. Oruzio, G. Specchia, F. Di Raimondo, F. Fabbiano, M. Sborgia, A. Liso, L. Farinelli, A. Rambaldi, L. Pasqualucci, R. Rabadan, T. Haferlach, B. Falini. (2011) Whole-exome sequencing identifies somatic mutations of BCOR in acute myeloid leukemia with normal karyotype. Blood 118:23, 6153-6163
CrossRef51
Philippe Metellus, Carole Colin, David Taieb, Eric Guedj, Isabelle Nanni-Metellus, Andre Maues Paula, Cécile Colavolpe, Stephane Fuentes, Henry Dufour, Marylin Barrie, Olivier Chinot, L’Houcine Ouafik, Dominique Figarella-Branger. (2011) IDH mutation status impact on in vivo hypoxia biomarkers expression: new insights from a clinical, nuclear imaging and immunohistochemical study in 33 glioma patients. Journal of Neuro-Oncology 105:3, 591-600
CrossRef52
David P. Steensma. (2011) Oddballs: Acute Leukemias of Mixed Phenotype and Ambiguous Origin. Hematology/Oncology Clinics of North America 25:6, 1235-1253
CrossRef53
Rob Sellar, Anthony H. Goldstone, Hillard M. Lazarus. (2011) Redefining Transplant in Acute Leukemia. Current Treatment Options in Oncology 12:4, 312-328
CrossRef54
Peter Nagele. (2011) Perioperative genomics. Best Practice & Research Clinical Anaesthesiology 25:4, 549-555
CrossRef55
Omar Abdel-Wahab, Jay Patel, Ross L. Levine. (2011) Clinical Implications of Novel Mutations in Epigenetic Modifiers in AML. Hematology/Oncology Clinics of North America 25:6, 1119-1133
CrossRef56
Marc A. Beal, Travis C. Glenn, Christopher M. Somers. (2011) Whole genome sequencing for quantifying germline mutation frequency in humans and model species: Cautious optimism. Mutation Research/Reviews in Mutation Research
CrossRef57
J. G. Scott, D. Basanta, P. Chinnaiyan, P. Canoll, K. R. Swanson, A. R. A. Anderson. (2011) Production of 2-hydroxyglutarate by isocitrate dehydrogenase 1-mutated gliomas: an evolutionary alternative to the Warburg shift?. Neuro-Oncology 13:12, 1262-1264
CrossRef58
Charles G. Mullighan. (2011) Genomic profiling of B-progenitor acute lymphoblastic leukemia. Best Practice & Research Clinical Haematology 24:4, 489-503
CrossRef59
J. S. Welch, D. C. Link. (2011) Genomics of AML: Clinical Applications of Next-Generation Sequencing. Hematology 2011:1, 30-35
CrossRef60
H. Dohner, V. I. Gaidzik. (2011) Impact of Genetic Features on Treatment Decisions in AML. Hematology 2011:1, 36-42
CrossRef61
T. Graubert, M. J. Walter. (2011) Genetics of Myelodysplastic Syndromes: New Insights. Hematology 2011:1, 543-549
CrossRef62
M. Li, R. Collins, Y. Jiao, P. Ouillette, D. Bixby, H. Erba, B. Vogelstein, K. W. Kinzler, N. Papadopoulos, S. N. Malek. (2011) Somatic mutations in the transcriptional corepressor gene BCORL1 in adult acute myelogenous leukemia. Blood 118:22, 5914-5917
CrossRef63
H Lilljebjörn, M Rissler, C Lassen, J Heldrup, M Behrendtz, F Mitelman, B Johansson, T Fioretos. (2011) Whole-exome sequencing of pediatric acute lymphoblastic leukemia. Leukemia
CrossRef64
S. M. Noordermeer, M. A. Sanders, C. Gilissen, E. Tonnissen, A. van der Heijden, K. Dohner, L. Bullinger, J. H. Jansen, P. J. M. Valk, B. A. van der Reijden. (2011) High BRE expression predicts favorable outcome in adult acute myeloid leukemia, in particular among MLL-AF9-positive patients. Blood 118:20, 5613-5621
CrossRef65
R. Xi, A. G. Hadjipanayis, L. J. Luquette, T.-M. Kim, E. Lee, J. Zhang, M. D. Johnson, D. M. Muzny, D. A. Wheeler, R. A. Gibbs, R. Kucherlapati, P. J. Park. (2011) PNAS Plus: Copy number variation detection in whole-genome sequencing data using the Bayesian information criterion. Proceedings of the National Academy of Sciences 108:46, E1128-E1136
CrossRef66
Brigitte Schlegelberger, Gudrun Göhring, Felicitas Thol, Michael Heuser. (2011) Update on cytogenetic and molecular changes in myelodysplastic syndromes. Leukemia & Lymphoma1-12
CrossRef67
Twinkal C Pansuriya, Ronald van Eijk, Pio d'Adamo, Maayke A J H van Ruler, Marieke L Kuijjer, Jan Oosting, Anne-Marie Cleton-Jansen, Jolieke G van Oosterwijk, Sofie L J Verbeke, Daniëlle Meijer, Tom van Wezel, Karolin H Nord, Luca Sangiorgi, Berkin Toker, Bernadette Liegl-Atzwanger, Mikel San-Julian, Raf Sciot, Nisha Limaye, Lars-Gunnar Kindblom, Soeren Daugaard, Catherine Godfraind, Laurence M Boon, Miikka Vikkula, Kyle C Kurek, Karoly Szuhai, Pim J French, Judith V M G Bovée. (2011) Somatic mosaic IDH1 and IDH2 mutations are associated with enchondroma and spindle cell hemangioma in Ollier disease and Maffucci syndrome. Nature Genetics 43:12, 1256-1261
CrossRef68
Paul M. Lizardi, Matteo Forloni, Narendra Wajapeyee. (2011) Genome-wide approaches for cancer gene discovery. Trends in Biotechnology 29:11, 558-568
CrossRef69
Gerald Wertheim, Adam Bagg. (2011) Making a Meal of Multiple Mutations in Acute Myeloid Malignancies. The Journal of Molecular Diagnostics 13:6, 605-608
CrossRef70
Elizabeth Hyjek, James W. Vardiman. (2011) Myelodysplastic/myeloproliferative neoplasms. Seminars in Diagnostic Pathology 28:4, 283-297
CrossRef71
Brunangelo Falini, Ilaria Gionfriddo, Federica Cecchetti, Stelvio Ballanti, Valentina Pettirossi, Maria Paola Martelli. (2011) Acute myeloid leukemia with mutated nucleophosmin (NPM1): Any hope for a targeted therapy?. Blood Reviews 25:6, 247-254
CrossRef72
F Damm, F Thol, I Hollink, M Zimmermann, K Reinhardt, M M van den Heuvel-Eibrink, C M Zwaan, V de Haas, U Creutzig, J-H Klusmann, J Krauter, M Heuser, A Ganser, D Reinhardt, C Thiede. (2011) Prevalence and prognostic value of IDH1 and IDH2 mutations in childhood AML: a study of the AML–BFM and DCOG study groups. Leukemia 25:11, 1704-1710
CrossRef73
H. Li. (2011) A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data. Bioinformatics 27:21, 2987-2993
CrossRef74
Betul Oran, Daniel J. Weisdorf. (2011) Allogeneic stem cell transplantation in first complete remission. Current Opinion in Hematology 18:6, 395-400
CrossRef75
Keyur P. Patel, Bedia A. Barkoh, Zhao Chen, Deqin Ma, Neelima Reddy, L. Jeffrey Medeiros, Rajyalakshmi Luthra. (2011) Diagnostic Testing for IDH1 and IDH2 Variants in Acute Myeloid Leukemia. The Journal of Molecular Diagnostics 13:6, 678-686
CrossRef76
Marcus Järås, Benjamin L. Ebert. (2011) Power Cut: Inhibiting Mitochondrial Translation to Target Leukemia. Cancer Cell 20:5, 555-556
CrossRef77
Kai Wang, Junsuo Kan, Siu Tsan Yuen, Stephanie T Shi, Kent Man Chu, Simon Law, Tsun Leung Chan, Zhengyan Kan, Annie S Y Chan, Wai Yin Tsui, Siu Po Lee, Siu Lun Ho, Anthony K W Chan, Grace H W Cheng, Peter C Roberts, Paul A Rejto, Neil W Gibson, David J Pocalyko, Mao Mao, Jiangchun Xu, Suet Yi Leung. (2011) Exome sequencing identifies frequent mutation of ARID1A in molecular subtypes of gastric cancer. Nature Genetics 43:12, 1219-1223
CrossRef78
P. A. Ho, K. J. Kopecky, T. A. Alonzo, R. B. Gerbing, K. L. Miller, J. Kuhn, R. Zeng, R. E. Ries, S. C. Raimondi, B. A. Hirsch, V. Oehler, C. A. Hurwitz, J. L. Franklin, A. S. Gamis, S. H. Petersdorf, J. E. Anderson, J. E. Godwin, G. H. Reaman, C. L. Willman, I. D. Bernstein, J. P. Radich, F. R. Appelbaum, D. L. Stirewalt, S. Meshinchi. (2011) Prognostic implications of the IDH1 synonymous SNP rs11554137 in pediatric and adult AML: a report from the Children's Oncology Group and SWOG. Blood 118:17, 4561-4566
CrossRef79
Kimberly Ng, Ryan Kim, Santosh Kesari, Bob Carter, Clark C. Chen. (2011) Genomic profiling of glioblastoma: convergence of fundamental biologic tenets and novel insights. Journal of Neuro-Oncology
CrossRef80
Jiang Lin, Dong-ming Yao, Jun Qian, Qin Chen, Wei Qian, Yun Li, Jing Yang, Cui-zhu Wang, Hai-yan Chai, Zhen Qian, Gao-fei Xiao, Wen-rong Xu. (2011) IDH1 and IDH2 mutation analysis in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome. Annals of Hematology
CrossRef81
Shawna Mae Hengel, Euan Murray, Simon Langdon, Larry Hayward, Jean O’Donoghue, Alexandre Panchaud, Ted Hupp, David R. Goodlett. (2011) Data-independent Proteomic Screen Identifies Novel Tamoxifen Agonist that Mediates Drug Resistance. Journal of Proteome Research 10:10, 4567-4578
CrossRef82
A. M. Jankowska, H. Makishima, R. V. Tiu, H. Szpurka, Y. Huang, F. Traina, V. Visconte, Y. Sugimoto, C. Prince, C. O'Keefe, E. D. Hsi, A. List, M. A. Sekeres, A. Rao, M. A. McDevitt, J. P. Maciejewski. (2011) Mutational spectrum analysis of chronic myelomonocytic leukemia includes genes associated with epigenetic regulation: UTX, EZH2, and DNMT3A. Blood 118:14, 3932-3941
CrossRef83
Brian M Alexander, Minesh P Mehta. (2011) Role of isocitrate dehydrogenase in glioma. Expert Review of Neurotherapeutics 11:10, 1399-1409
CrossRef84
Daniel Stieber, Siti A Abdul Rahim, Simone P Niclou. (2011) Novel ways to target brain tumour metabolism. Expert Opinion on Therapeutic Targets 15:10, 1227-1239
CrossRef85
Yiqun Zhang, Hui Wei, Min Wang, Lei Huai, Yingchang Mi, Yizhi Zhang, Dong Lin, Bingcheng Liu, Wei Li, Chunlin Zhou, Qing Rao, Jianxiang Wang. (2011) Some novel features of IDH1-mutated acute myeloid leukemia revealed in Chinese patients. Leukemia Research 35:10, 1301-1306
CrossRef86
Toshio Suda, Keiyo Takubo, Gregg L. Semenza. (2011) Metabolic Regulation of Hematopoietic Stem Cells in the Hypoxic Niche. Cell Stem Cell 9:4, 298-310
CrossRef87
A K Andersson, D W Miller, J A Lynch, A S Lemoff, Z Cai, S B Pounds, I Radtke, B Yan, J D Schuetz, J E Rubnitz, R C Ribeiro, S C Raimondi, J Zhang, C G Mullighan, S A Shurtleff, B A Schulman, J R Downing. (2011) IDH1 and IDH2 mutations in pediatric acute leukemia. Leukemia 25:10, 1570-1577
CrossRef88
P S Ward, J R Cross, C Lu, O Weigert, O Abel-Wahab, R L Levine, D M Weinstock, K A Sharp, C B Thompson. (2011) Identification of additional IDH mutations associated with oncometabolite R(−)-2-hydroxyglutarate production. Oncogene
CrossRef89
Nilay Sethi, Yibin Kang. (2011) Unravelling the complexity of metastasis — molecular understanding and targeted therapies. Nature Reviews Cancer 11:10, 735-748
CrossRef90
Kit Man Wong, Thomas J. Hudson, John D. McPherson. (2011) Unraveling the Genetics of Cancer: Genome Sequencing and Beyond. Annual Review of Genomics and Human Genetics 12:1, 407-430
CrossRef91
A Tefferi, T Jimma, N H Sulai, T L Lasho, C M Finke, R A Knudson, R F McClure, A Pardanani. (2011) IDH mutations in primary myelofibrosis predict leukemic transformation and shortened survival: clinical evidence for leukemogenic collaboration with JAK2V617F. Leukemia
CrossRef92
Kenichi Yoshida, Masashi Sanada, Yuichi Shiraishi, Daniel Nowak, Yasunobu Nagata, Ryo Yamamoto, Yusuke Sato, Aiko Sato-Otsubo, Ayana Kon, Masao Nagasaki, George Chalkidis, Yutaka Suzuki, Masashi Shiosaka, Ryoichiro Kawahata, Tomoyuki Yamaguchi, Makoto Otsu, Naoshi Obara, Mamiko Sakata-Yanagimoto, Ken Ishiyama, Hiraku Mori, Florian Nolte, Wolf-Karsten Hofmann, Shuichi Miyawaki, Sumio Sugano, Claudia Haferlach, H. Phillip Koeffler, Lee-Yung Shih, Torsten Haferlach, Shigeru Chiba, Hiromitsu Nakauchi, Satoru Miyano, Seishi Ogawa. (2011) Frequent pathway mutations of splicing machinery in myelodysplasia. Nature 478:7367, 64-69
CrossRef93
Luz Martínez-Avilés, Carlos Besses, Alberto Álvarez-Larrán, Erica Torres, Sergi Serrano, Beatriz Bellosillo. (2011) TET2, ASXL1, IDH1, IDH2, and c-CBL genes in JAK2- and MPL-negative myeloproliferative neoplasms. Annals of Hematology
CrossRef94
E Tiacci, A Spanhol-Rosseto, M P Martelli, L Pasqualucci, H Quentmeier, V Grossmann, H G Drexler, B Falini. (2011) The NPM1 wild-type OCI-AML2 and the NPM1-mutated OCI-AML3 cell lines carry DNMT3A mutations. Leukemia
CrossRef95
Luisa Cimmino, Omar Abdel-Wahab, Ross L. Levine, Iannis Aifantis. (2011) TET Family Proteins and Their Role in Stem Cell Differentiation and Transformation. Cell Stem Cell 9:3, 193-204
CrossRef96
P A Greif, M Yaghmaie, N P Konstandin, B Ksienzyk, K Alimoghaddam, A Ghavamzadeh, A Hauser, A Graf, S Krebs, H Blum, S K Bohlander. (2011) Somatic mutations in acute promyelocytic leukemia (APL) identified by exome sequencing. Leukemia 25:9, 1519-1522
CrossRef97
Matthew G. Vander Heiden. (2011) Targeting cancer metabolism: a therapeutic window opens. Nature Reviews Drug Discovery 10:9, 671-684
CrossRef98
V. E. Velculescu, L. A. Diaz. (2011) Understanding the Enemy. Science Translational Medicine 3:98, 98ps37-98ps37
CrossRef99
I H I M Hollink, Q Feng, A A Danen-van Oorschot, S T C J M Arentsen-Peters, L J Verboon, P Zhang, V de Haas, D Reinhardt, U Creutzig, J Trka, R Pieters, M M van den Heuvel-Eibrink, J Wang, C M Zwaan. (2011) Low frequency of DNMT3A mutations in pediatric AML, and the identification of the OCI-AML3 cell line as an in vitro model. Leukemia
CrossRef100
F Damm, T Bunke, F Thol, B Markus, K Wagner, G Göhring, B Schlegelberger, G Heil, C W M Reuter, K Püllmann, R F Schlenk, K Döhner, M Heuser, J Krauter, H Döhner, A Ganser, M A Morgan. (2011) Prognostic implications and molecular associations of NADH dehydrogenase subunit 4 (ND4) mutations in acute myeloid leukemia. Leukemia
CrossRef101
Michael Weller, Wolfgang Wick, Andreas von Deimling. (2011) Isocitrate dehydrogenase mutations: A challenge to traditional views on the genesis and malignant progression of gliomas. Glia 59:8, 1200-1204
CrossRef102
Prerana Jha, Vaishali Suri, Vikas Sharma, Geetika Singh, Mehar Chand Sharma, Pankaj Pathak, Kunzang Chosdol, Pankaj Jha, Ashish Suri, Ashok Kumar Mahapatra, Shashank Sharad Kale, Chitra Sarkar. (2011) IDH1 mutations in gliomas: First series from a tertiary care centre in India with comprehensive review of literature. Experimental and Molecular Pathology 91:1, 385-393
CrossRef103
Jason T. Huse, Heidi S. Phillips, Cameron W. Brennan. (2011) Molecular subclassification of diffuse gliomas: Seeing order in the chaos. Glia 59:8, 1190-1199
CrossRef104
P. A. F. Galante, R. B. Parmigiani, Q. Zhao, O. L. Caballero, J. E. de Souza, F. C. P. Navarro, A. L. Gerber, M. F. Nicolas, A. C. M. Salim, A. P. M. Silva, L. Edsall, S. Devalle, L. G. Almeida, Z. Ye, S. Kuan, D. G. Pinheiro, I. Tojal, R. G. Pedigoni, R. G. M. A. de Sousa, T. Y. K. Oliveira, M. G. de Paula, L. Ohno-Machado, E. F. Kirkness, S. Levy, W. A. da Silva, A. T. R. Vasconcelos, B. Ren, M. A. Zago, R. L. Strausberg, A. J. G. Simpson, S. J. de Souza, A. A. Camargo. (2011) Distinct patterns of somatic alterations in a lymphoblastoid and a tumor genome derived from the same individual. Nucleic Acids Research 39:14, 6056-6068
CrossRef105
E. M. Payne, N. Bolli, J. Rhodes, O. I. Abdel-Wahab, R. Levine, C. V. Hedvat, R. Stone, A. Khanna-Gupta, H. Sun, J. P. Kanki, H. T. Gazda, A. H. Beggs, F. E. Cotter, A. T. Look. (2011) Ddx18 is essential for cell-cycle progression in zebrafish hematopoietic cells and is mutated in human AML. Blood 118:4, 903-915
CrossRef106
V. Rockova, S. Abbas, B. J. Wouters, C. A. J. Erpelinck, H. B. Beverloo, R. Delwel, W. L. J. van Putten, B. Lowenberg, P. J. M. Valk. (2011) Risk stratification of intermediate-risk acute myeloid leukemia: integrative analysis of a multitude of gene mutation and gene expression markers. Blood 118:4, 1069-1076
CrossRef107
Ryan D. Morin, Maria Mendez-Lago, Andrew J. Mungall, Rodrigo Goya, Karen L. Mungall, Richard D. Corbett, Nathalie A. Johnson, Tesa M. Severson, Readman Chiu, Matthew Field, Shaun Jackman, Martin Krzywinski, David W. Scott, Diane L. Trinh, Jessica Tamura-Wells, Sa Li, Marlo R. Firme, Sanja Rogic, Malachi Griffith, Susanna Chan, Oleksandr Yakovenko, Irmtraud M. Meyer, Eric Y. Zhao, Duane Smailus, Michelle Moksa, Suganthi Chittaranjan, Lisa Rimsza, Angela Brooks-Wilson, John J. Spinelli, Susana Ben-Neriah, Barbara Meissner, Bruce Woolcock, Merrill Boyle, Helen McDonald, Angela Tam, Yongjun Zhao, Allen Delaney, Thomas Zeng, Kane Tse, Yaron Butterfield, Inanç Birol, Rob Holt, Jacqueline Schein, Douglas E. Horsman, Richard Moore, Steven J. M. Jones, Joseph M. Connors, Martin Hirst, Randy D. Gascoyne, Marco A. Marra. (2011) Frequent mutation of histone-modifying genes in non-Hodgkin lymphoma. Nature 476:7360, 298-303
CrossRef108
C. L. Green, C. M. Evans, L. Zhao, R. K. Hills, A. K. Burnett, D. C. Linch, R. E. Gale. (2011) The prognostic significance of IDH2 mutations in AML depends on the location of the mutation. Blood 118:2, 409-412
CrossRef109
G. Fabbri, S. Rasi, D. Rossi, V. Trifonov, H. Khiabanian, J. Ma, A. Grunn, M. Fangazio, D. Capello, S. Monti, S. Cresta, E. Gargiulo, F. Forconi, A. Guarini, L. Arcaini, M. Paulli, L. Laurenti, L. M. Larocca, R. Marasca, V. Gattei, D. Oscier, F. Bertoni, C. G. Mullighan, R. Foa, L. Pasqualucci, R. Rabadan, R. Dalla-Favera, G. Gaidano. (2011) Analysis of the chronic lymphocytic leukemia coding genome: role of NOTCH1 mutational activation. Journal of Experimental Medicine 208:7, 1389-1401
CrossRef110
Kelly Moran-Crusio, Linsey Reavie, Alan Shih, Omar Abdel-Wahab, Delphine Ndiaye-Lobry, Camille Lobry, Maria E. Figueroa, Aparna Vasanthakumar, Jay Patel, Xinyang Zhao, Fabiana Perna, Suveg Pandey, Jozef Madzo, Chunxiao Song, Qing Dai, Chuan He, Sherif Ibrahim, Miloslav Beran, Jiri Zavadil, Stephen D. Nimer, Ari Melnick, Lucy A. Godley, Iannis Aifantis, Ross L. Levine. (2011) Tet2 Loss Leads to Increased Hematopoietic Stem Cell Self-Renewal and Myeloid Transformation. Cancer Cell 20:1, 11-24
CrossRef111
Marcos R.H. Estécio, Jean-Pierre J. Issa. (2011) Dissecting DNA hypermethylation in cancer. FEBS Letters 585:13, 2078-2086
CrossRef112
P. Leif Bergsagel, W. Michael Kuehl. (2011) Comprehensive Identification of Somatic Mutations in Chronic Lymphocytic Leukemia. Cancer Cell 20:1, 5-7
CrossRef113
Margherita Nannini, Guido Biasco, Alessandra Maleddu, Maria A Pantaleo. (2011) New molecular targets beyond KIT and PDGFRA in gastrointestinal stromal tumors: present and future. Expert Opinion on Therapeutic Targets 15:7, 803-815
CrossRef114
Ichiyo Shibahara, Yukihiko Sonoda, Masayuki Kanamori, Ryuta Saito, Toshihiro Kumabe, Teiji Tominaga. (2011) New insights into glioma classification based on isocitrate dehydrogenase 1 and 2 gene status. Brain Tumor Pathology 28:3, 203-208
CrossRef115
Patrick M. Blake, David A. Decker, Timothy M. Glennon, Yong Michael Liang, Sascha Losko, Nicholas Navin, K. Stephen Suh. (2011) Toward an Integrated Knowledge Environment to Support Modern Oncology. The Cancer Journal 17:4, 257-263
CrossRef116
Jiang Lin, Jun Qian, Dong-Ming Yao, Yun Li, Jing Yang, Qin Chen, Hai-yan Chai, Gao-Fei Xiao, Wen-rong Xu. (2011) Rapid and reliable detection of IDH1 R132 mutations in acute myeloid leukemia using high-resolution melting curve analysis. Clinical Biochemistry 44:10-11, 779-783
CrossRef117
Yuejun Fu, Rui Huang, Yali Zheng, Zhiyun Zhang, Aihua Liang. (2011) Glioma-derived mutations in isocitrate dehydrogenase 2 beneficial to traditional chemotherapy. Biochemical and Biophysical Research Communications 410:2, 218-223
CrossRef118
Raoul Tibes, Ruben A. Mesa. (2011) Myeloproliferative neoplasms 5 years after discovery of JAK2V617F: what is the impact of JAK2 inhibitor therapy?. Leukemia & Lymphoma 52:7, 1178-1187
CrossRef119
Odenike, Olatoyosi, Le Beau, Michelle M., . (2011) The Dawn of the Molecular Era of the Myelodysplastic Syndromes. New England Journal of Medicine 364:26, 2545-2546
Full Text120
P. Noris, S. Perrotta, M. Seri, A. Pecci, C. Gnan, G. Loffredo, N. Pujol-Moix, M. Zecca, F. Scognamiglio, D. De Rocco, F. Punzo, F. Melazzini, S. Scianguetta, M. Casale, C. Marconi, T. Pippucci, G. Amendola, L. D. Notarangelo, C. Klersy, E. Civaschi, C. L. Balduini, A. Savoia. (2011) Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. Blood 117:24, 6673-6680
CrossRef121
M. C. Wendl, J. W. Wallis, L. Lin, C. Kandoth, E. R. Mardis, R. K. Wilson, L. Ding. (2011) PathScan: a tool for discerning mutational significance in groups of putative cancer genes. Bioinformatics 27:12, 1595-1602
CrossRef122
Felix Sahm, David Capper, Jochen Meyer, Christian Hartmann, Esther Herpel, Mindaugas Andrulis, Gunhild Mechtersheimer, Iver Petersen, Werner Paulus, Andreas von Deimling. (2011) Immunohistochemical analysis of 1844 human epithelial and haematopoietic tumours and sarcomas for IDH1R132H mutation. Histopathology 58:7, 1167-1172
CrossRef123
S. Pusch, F. Sahm, J. Meyer, M. Mittelbronn, C. Hartmann, A. von Deimling. (2011) Scientific correspondence. Neuropathology and Applied Neurobiology 37:4, 428-430
CrossRef124
Lawrence A. Loeb. (2011) Human cancers express mutator phenotypes: origin, consequences and targeting. Nature Reviews Cancer 11:6, 450-457
CrossRef125
Michal R. Schweiger, Martin Kerick, Bernd Timmermann, Melanie Isau. (2011) The power of NGS technologies to delineate the genome organization in cancer: from mutations to structural variations and epigenetic alterations. Cancer and Metastasis Reviews 30:2, 199-210
CrossRef126
Beth Pietrak, Huizhen Zhao, Hongwei Qi, Chad Quinn, Enoch Gao, Joseph G. Boyer, Nestor Concha, Kristin Brown, Chaya Duraiswami, Richard Wooster, Sharon Sweitzer, Benjamin Schwartz. (2011) A Tale of Two Subunits: How the Neomorphic R132H IDH1 Mutation Enhances Production of αHG. Biochemistry 50:21, 4804-4812
CrossRef127
H. Makishima, A. M. Jankowska, M. A. McDevitt, C. O'Keefe, S. Dujardin, H. Cazzolli, B. Przychodzen, C. Prince, J. Nicoll, H. Siddaiah, M. Shaik, H. Szpurka, E. Hsi, A. Advani, R. Paquette, J. P. Maciejewski. (2011) CBL, CBLB, TET2, ASXL1, and IDH1/2 mutations and additional chromosomal aberrations constitute molecular events in chronic myelogenous leukemia. Blood 117:21, e198-e206
CrossRef128
Thomas J. Hudson. (2011) Cancer genome variation in children, adolescents, and young adults. Cancer 117:S10, 2262-2267
CrossRef129
Mrinal M. Patnaik, Terra L. Lasho, Christy M. Finke, Ryan A. Knudson, Rhett P. Ketterling, Dong Chen, James D. Hoyer, Curtis A. Hanson, Ayalew Tefferi. (2011) Isolated del(5q) in myeloid malignancies: Clinicopathologic and molecular features in 143 consecutive patients. American Journal of Hematology 86:5, 393-398
CrossRef130
Eric J. Duncavage, Vincent Magrini, Nils Becker, Jon R. Armstrong, Ryan T. Demeter, Todd Wylie, Haley J. Abel, John D. Pfeifer. (2011) Hybrid Capture and Next-Generation Sequencing Identify Viral Integration Sites from Formalin-Fixed, Paraffin-Embedded Tissue. The Journal of Molecular Diagnostics 13:3, 325-333
CrossRef131
V Grossmann, A Kohlmann, C Eder, C Haferlach, W Kern, N C P Cross, T Haferlach, S Schnittger. (2011) Molecular profiling of chronic myelomonocytic leukemia reveals diverse mutations in >80% of patients with TET2 and EZH2 being of high prognostic relevance. Leukemia 25:5, 877-879
CrossRef132
Rebecca Y Kim, Hua Xu, Samuel Myllykangas, Hanlee Ji. (2011) Genetic-based biomarkers and next-generation sequencing: the future of personalized care in colorectal cancer. Personalized Medicine 8:3, 331-345
CrossRef133
Leandro Sastre. (2011) New DNA sequencing technologies open a promising era for cancer research and treatment. Clinical and Translational Oncology 13:5, 301-306
CrossRef134
Gerald B Wertheim, Adam Bagg. (2011) Minimal residual disease testing to predict relapse following transplant for AML and high-grade myelodysplastic syndromes. Expert Review of Molecular Diagnostics 11:4, 361-366
CrossRef135
P A Greif, S H Eck, N P Konstandin, A Benet-Pagès, B Ksienzyk, A Dufour, A T Vetter, H D Popp, B Lorenz-Depiereux, T Meitinger, S K Bohlander, T M Strom. (2011) Identification of recurring tumor-specific somatic mutations in acute myeloid leukemia by transcriptome sequencing. Leukemia 25:5, 821-827
CrossRef136
François Ducray, Ahmed Idbaih, Xiao-Wei Wang, Caroline Cheneau, Marianne Labussiere, Marc Sanson. (2011) Predictive and prognostic factors for gliomas. Expert Review of Anticancer Therapy 11:5, 781-789
CrossRef137
Aaron G. Day-Williams, Eleftheria Zeggini. (2011) The effect of next-generation sequencing technology on complex trait research. European Journal of Clinical Investigation 41:5, 561-567
CrossRef138
Rachael Natrajan, Jorge S Reis-Filho. (2011) Next-generation sequencing applied to molecular diagnostics. Expert Review of Molecular Diagnostics 11:4, 425-444
CrossRef139
Yasushi Totoki, Kenji Tatsuno, Shogo Yamamoto, Yasuhito Arai, Fumie Hosoda, Shumpei Ishikawa, Shuichi Tsutsumi, Kohtaro Sonoda, Hirohiko Totsuka, Takuya Shirakihara, Hiromi Sakamoto, Linghua Wang, Hidenori Ojima, Kazuaki Shimada, Tomoo Kosuge, Takuji Okusaka, Kazuto Kato, Jun Kusuda, Teruhiko Yoshida, Hiroyuki Aburatani, Tatsuhiro Shibata. (2011) High-resolution characterization of a hepatocellular carcinoma genome. Nature Genetics 43:5, 464-469
CrossRef140
Jerald Radich. 2011. The Molecular Biology of Acute Myeloid Leukemia. , 86-102.
CrossRef141
Craig Horbinski, Julia Kofler, Gabrielle Yeaney, Sandra Camelo-Piragua, Sriram Venneti, David N. Louis, Arie Perry, Geoffrey Murdoch, Marina Nikiforova. (2011) Isocitrate Dehydrogenase 1 Analysis Differentiates Gangliogliomas from Infiltrative Gliomas. Brain Pathologyno-no
CrossRef142
Dinesh Rakheja, Richard L. Boriack, Midori Mitui, Shama Khokhar, Shelby A. Holt, Payal Kapur. (2011) Papillary thyroid carcinoma shows elevated levels of 2-hydroxyglutarate. Tumor Biology 32:2, 325-333
CrossRef143
Hayato Ikota, Sumihito Nobusawa, Yuko Tanaka, Hideaki Yokoo, Yoichi Nakazato. (2011) High-throughput immunohistochemical profiling of primary brain tumors and non-neoplastic systemic organs with a specific antibody against the mutant isocitrate dehydrogenase 1 R132H protein. Brain Tumor Pathology 28:2, 107-114
CrossRef144
Lucy A. Godley, John Cunningham, M. Eileen Dolan, R. Stephanie Huang, Sandeep Gurbuxani, Megan E. McNerney, Richard A. Larson, Hoyee Leong, Yves Lussier, Kenan Onel, Olatoyosi Odenike, Wendy Stock, Kevin P. White, Michelle M. Le Beau. (2011) An Integrated Genomic Approach to the Assessment and Treatment of Acute Myeloid Leukemia. Seminars in Oncology 38:2, 215-224
CrossRef145
Aleah F. Caulin, Carlo C. Maley. (2011) Peto's Paradox: evolution's prescription for cancer prevention. Trends in Ecology & Evolution 26:4, 175-182
CrossRef146
D H Roukos. (2011) Trastuzumab and beyond: sequencing cancer genomes and predicting molecular networks. The Pharmacogenomics Journal 11:2, 81-92
CrossRef147
Emily F. Mason, Jeffrey C. Rathmell. (2011) Cell metabolism: An essential link between cell growth and apoptosis. Biochimica et Biophysica Acta (BBA) - Molecular Cell Research 1813:4, 645-654
CrossRef148
Raajit K. Rampal, Ross L. Levine. (2011) Finding a needle in a haystack: whole genome sequencing and mutation discovery in murine models. Journal of Clinical Investigation 121:4, 1255-1258
CrossRef149
Lukas D. Wartman, David E. Larson, Zhifu Xiang, Li Ding, Ken Chen, Ling Lin, Patrick Cahan, Jeffery M. Klco, John S. Welch, Cheng Li, Jacqueline E. Payton, Geoffrey L. Uy, Nobish Varghese, Rhonda E. Ries, Mieke Hoock, Daniel C. Koboldt, Michael D. McLellan, Heather Schmidt, Robert S. Fulton, Rachel M. Abbott, Lisa Cook, Sean D. McGrath, Xian Fan, Adam F. Dukes, Tammi Vickery, Joelle Kalicki, Tamara L. Lamprecht, Timothy A. Graubert, Michael H. Tomasson, Elaine R. Mardis, Richard K. Wilson, Timothy J. Ley. (2011) Sequencing a mouse acute promyelocytic leukemia genome reveals genetic events relevant for disease progression. Journal of Clinical Investigation 121:4, 1445-1455
CrossRef150
José L. Sardina, Guillermo López-Ruano, Beatriz Sánchez-Sánchez, Marcial Llanillo, Angel Hernández-Hernández. (2011) Reactive oxygen species: Are they important for haematopoiesis?. Critical Reviews in Oncology/Hematology
CrossRef151
N. Boissel, O. Nibourel, A. Renneville, P. Huchette, H. Dombret, C. Preudhomme. (2011) Differential prognosis impact of IDH2 mutations in cytogenetically normal acute myeloid leukemia. Blood 117:13, 3696-3697
CrossRef152
M. R. Stratton. (2011) Exploring the Genomes of Cancer Cells: Progress and Promise. Science 331:6024, 1553-1558
CrossRef153
Xiao-Jing Yan, Jie Xu, Zhao-Hui Gu, Chun-Ming Pan, Gang Lu, Yang Shen, Jing-Yi Shi, Yong-Mei Zhu, Lin Tang, Xiao-Wei Zhang, Wen-Xue Liang, Jian-Qing Mi, Huai-Dong Song, Ke-Qin Li, Zhu Chen, Sai-Juan Chen. (2011) Exome sequencing identifies somatic mutations of DNA methyltransferase gene DNMT3A in acute monocytic leukemia. Nature Genetics 43:4, 309-315
CrossRef154
Monika M. Pichler, Claudia Bodner, Carina Fischer, Alexander J. Deutsch, Karin Hiden, Christine Beham-Schmid, Werner Linkesch, Christian Guelly, Heinz Sill, Albert Wölfler. (2011) Evaluation of mutations in the isocitrate dehydrogenase genes in therapy-related and secondary acute myeloid leukaemia identifies a patient with clonal evolution to IDH2 R172K homozygosity due to uniparental disomy. British Journal of Haematology 152:5, 669-672
CrossRef155
Victoria Aranda, Alison Farrell, Carolina Pola, Meera Swami. (2011) Research Highlights. Nature Medicine 17:3, 294-295
CrossRef156
John R Prensner, Arul M Chinnaiyan. (2011) Metabolism unhinged: IDH mutations in cancer. Nature Medicine 17:3, 291-293
CrossRef157
Dinesh Rakheja, Midori Mitui, Richard L. Boriack, Ralph J. DeBerardinis. (2011) Isocitrate dehydrogenase 1/2 mutational analyses and 2-hydroxyglutarate measurements in Wilms tumors. Pediatric Blood & Cancer 56:3, 379-383
CrossRef158
Alison Farrell. (2011) A close look at cancer. Nature Medicine 17:3, 262-265
CrossRef159
Ian J Majewski, René Bernards. (2011) Taming the dragon: genomic biomarkers to individualize the treatment of cancer. Nature Medicine304-312
CrossRef160
Luca Malcovati, Régis Peffault de Latour, Antonio Risitano. (2011) Aplastic Anemia & MDS International Foundation (AA&MDSIF): Bone Marrow Failure Disease Scientific Symposium 2010. Leukemia Research 35:3, 291-294
CrossRef161
Christian Frezza, Patrick J Pollard, Eyal Gottlieb. (2011) Inborn and acquired metabolic defects in cancer. Journal of Molecular Medicine 89:3, 213-220
CrossRef162
Omar Abdel-Wahab. (2011) Genetics of the myeloproliferative neoplasms. Current Opinion in Hematology 18:2, 117-123
CrossRef163
Tatsuhiro Shibata, Akiko Kokubu, Masashi Miyamoto, Yuko Sasajima, Naoya Yamazaki. (2011) Mutant IDH1 Confers an in Vivo Growth in a Melanoma Cell Line with BRAF Mutation. The American Journal of Pathology 178:3, 1395-1402
CrossRef164
Linda B. C. Bralten, Nanne K. Kloosterhof, Rutger Balvers, Andrea Sacchetti, Lariesa Lapre, Martine Lamfers, Sieger Leenstra, Hugo de Jonge, Johan M. Kros, Erwin E. W. Jansen, Eduard A. Struys, Cornelis Jakobs, Gajja S. Salomons, Sander H. Diks, Maikel Peppelenbosch, Andreas Kremer, Casper C. Hoogenraad, Peter A. E. Sillevis Smitt, Pim J. French. (2011) IDH1 R132H decreases proliferation of glioma cell lines in vitro and in vivo. Annals of Neurology 69:3, 455-463
CrossRef165
Michael F. Berger, Michael S. Lawrence, Francesca Demichelis, Yotam Drier, Kristian Cibulskis, Andrey Y. Sivachenko, Andrea Sboner, Raquel Esgueva, Dorothee Pflueger, Carrie Sougnez, Robert Onofrio, Scott L. Carter, Kyung Park, Lukas Habegger, Lauren Ambrogio, Timothy Fennell, Melissa Parkin, Gordon Saksena, Douglas Voet, Alex H. Ramos, Trevor J. Pugh, Jane Wilkinson, Sheila Fisher, Wendy Winckler, Scott Mahan, Kristin Ardlie, Jennifer Baldwin, Jonathan W. Simons, Naoki Kitabayashi, Theresa Y. MacDonald, Philip W. Kantoff, Lynda Chin, Stacey B. Gabriel, Mark B. Gerstein, Todd R. Golub, Matthew Meyerson, Ashutosh Tewari, Eric S. Lander, Gad Getz, Mark A. Rubin, Levi A. Garraway. (2011) The genomic complexity of primary human prostate cancer. Nature 470:7333, 214-220
CrossRef166
T. H.- P. Chen, A. Kambal, K. Krysiak, M. A. Walshauser, G. Raju, J. F. Tibbitts, M. J. Walter. (2011) Knockdown of Hspa9, a del(5q31.2) gene, results in a decrease in hematopoietic progenitors in mice. Blood 117:5, 1530-1539
CrossRef167
L. V. O'Keefe, A. Colella, S. Dayan, Q. Chen, A. Choo, R. Jacob, G. Price, D. Venter, R. I. Richards. (2011) Drosophila orthologue of WWOX, the chromosomal fragile site FRA16D tumour suppressor gene, functions in aerobic metabolism and regulates reactive oxygen species. Human Molecular Genetics 20:3, 497-509
CrossRef168
Kathryn G Roberts, Charles G Mullighan. (2011) How new advances in genetic analysis are influencing the understanding and treatment of childhood acute leukemia. Current Opinion in Pediatrics 23:1, 34-40
CrossRef169
K Oki, J Takita, M Hiwatari, R Nishimura, M Sanada, J Okubo, M Adachi, M Sotomatsu, A Kikuchi, T Igarashi, Y Hayashi, S Ogawa. (2011) IDH1 and IDH2 mutations are rare in pediatric myeloid malignancies. Leukemia 25:2, 382-384
CrossRef170
W-C Chou, W-C Lei, B-S Ko, H-A Hou, C-Y Chen, J-L Tang, M Yao, W Tsay, S-J Wu, S-Y Huang, S-C Hsu, Y-C Chen, Y-C Chang, K-T Kuo, F-Y Lee, M-C Liu, C-W Liu, M-H Tseng, C-F Huang, H-F Tien. (2011) The prognostic impact and stability of Isocitrate dehydrogenase 2 mutation in adult patients with acute myeloid leukemia. Leukemia 25:2, 246-253
CrossRef171
Sylvie M. Noordermeer, Evelyn Tönnissen, Inge Vissers, Adrian van der Heijden, Louis T. van de Locht, Piëtte P. Deutz-Terlouw, Erik W. A. Marijt, Joop H. Jansen, Bert A. van der Reijden. (2011) Rapid identification of IDH1 and IDH2 mutations in acute myeloid leukaemia using high resolution melting curve analysis. British Journal of Haematology 152:4, 493-496
CrossRef172
Sandra Camelo-Piragua, Michael Jansen, Aniruddha Ganguly, James ChulMin Kim, Arjola K. Cosper, Dora Dias-Santagata, Catherine L. Nutt, A. John Iafrate, David N. Louis. (2011) A Sensitive and Specific Diagnostic Panel to Distinguish Diffuse Astrocytoma From Astrocytosis. Journal of Neuropathology and Experimental Neurology 70:2, 110-115
CrossRef173
Rob A. Cairns, Isaac S. Harris, Tak W. Mak. (2011) Regulation of cancer cell metabolism. Nature Reviews Cancer 11:2, 85-95
CrossRef174
David Capper, David Reuss, Jens Schittenhelm, Christian Hartmann, Juliane Bremer, Felix Sahm, Patrick N. Harter, Astrid Jeibmann, Andreas Deimling. (2011) Mutation-specific IDH1 antibody differentiates oligodendrogliomas and oligoastrocytomas from other brain tumors with oligodendroglioma-like morphology. Acta Neuropathologica 121:2, 241-252
CrossRef175
B. Falini, M. P. Martelli, N. Bolli, P. Sportoletti, A. Liso, E. Tiacci, T. Haferlach. (2011) Acute myeloid leukemia with mutated nucleophosmin (NPM1): is it a distinct entity?. Blood 117:4, 1109-1120
CrossRef176
B. T. Wilhelm, M. Briau, P. Austin, A. Faubert, G. Boucher, P. Chagnon, K. Hope, S. Girard, N. Mayotte, J.-R. Landry, J. Hebert, G. Sauvageau. (2011) RNA-seq analysis of 2 closely related leukemia clones that differ in their self-renewal capacity. Blood 117:2, e27-e38
CrossRef177
Gerd P Pfeifer, Pierre Hainaut. (2011) Next-generation sequencing: emerging lessons on the origins of human cancer. Current Opinion in Oncology 23:1, 62-68
CrossRef178
Barry S. Taylor, Marc Ladanyi. (2011) Clinical cancer genomics: how soon is now?. The Journal of Pathology 223:2, 319-327
CrossRef179
Charles Mullighan, Effie Petersdorf, Stella M. Davies, John DiPersio. (2011) From Trees to the Forest: Genes to Genomics. Biology of Blood and Marrow Transplantation 17:1, S52-S57
CrossRef180
M Pigazzi, G Ferrari, R Masetti, B Falini, F Martinolli, G Basso, A Biondi, A Pession, G Cazzaniga. (2011) Low prevalence of IDH1 gene mutation in childhood AML in Italy. Leukemia 25:1, 173-174
CrossRef181
Shinichiro Takahashi. (2011) Current findings for recurring mutations in acute myeloid leukemia. Journal of Hematology & Oncology 4:1, 36
CrossRef182
Nanne K Kloosterhof, Linda BC Bralten, Hendrikus J Dubbink, Pim J French, Martin J van den Bent. (2011) Isocitrate dehydrogenase-1 mutations: a fundamentally new understanding of diffuse glioma?. The Lancet Oncology 12:1, 83-91
CrossRef183
Farhad Ravandi, Keyur Patel, Rajyalakshmi Luthra, Stefan Faderl, Marina Konopleva, Tapan Kadia, Mark Brandt, Sherry Pierce, Steven Kornblau, Michael Andreeff, Xuemei Wang, Guillermo Garcia-Manero, Jorge Cortes, Hagop Kantarjian. (2011) Prognostic significance of alterations in IDH enzyme isoforms in patients with AML treated with high-dose cytarabine and idarubicin. Cancern/a-n/a
CrossRef184
Philip J. Stephens, Chris D. Greenman, Beiyuan Fu, Fengtang Yang, Graham R. Bignell, Laura J. Mudie, Erin D. Pleasance, King Wai Lau, David Beare, Lucy A. Stebbings, Stuart McLaren, Meng-Lay Lin, David J. McBride, Ignacio Varela, Serena Nik-Zainal, Catherine Leroy, Mingming Jia, Andrew Menzies, Adam P. Butler, Jon W. Teague, Michael A. Quail, John Burton, Harold Swerdlow, Nigel P. Carter, Laura A. Morsberger, Christine Iacobuzio-Donahue, George A. Follows, Anthony R. Green, Adrienne M. Flanagan, Michael R. Stratton, P. Andrew Futreal, Peter J. Campbell. (2011) Massive Genomic Rearrangement Acquired in a Single Catastrophic Event during Cancer Development. Cell 144:1, 27-40
CrossRef185
Andreas Von Deimling, Andrey Korshunov, Christian Hartmann. (2011) The Next Generation of Glioma Biomarkers: MGMT Methylation, BRAF Fusions and IDH1 Mutations. Brain Pathology 21:1, 74-87
CrossRef186
S. A. Forbes, N. Bindal, S. Bamford, C. Cole, C. Y. Kok, D. Beare, M. Jia, R. Shepherd, K. Leung, A. Menzies, J. W. Teague, P. J. Campbell, M. R. Stratton, P. A. Futreal. (2011) COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Research 39:Database, D945-D950
CrossRef187
S Soverini, J Score, I Iacobucci, A Poerio, A Lonetti, A Gnani, S Colarossi, A Ferrari, F Castagnetti, G Rosti, F Cervantes, A Hochhaus, M Delledonne, A Ferrarini, M Sazzini, D Luiselli, M Baccarani, N C P Cross, G Martinelli. (2011) IDH2 somatic mutations in chronic myeloid leukemia patients in blast crisis. Leukemia 25:1, 178-181
CrossRef188
Xutao Deng. (2011) SeqGene: a comprehensive software solution for mining exome- and transcriptome- sequencing data. BMC Bioinformatics 12:1, 267
CrossRef189
Akash Kumar, Jay Shendure, Peter S Nelson. (2011) Genome interrupted: sequencing of prostate cancer reveals the importance of chromosomal rearrangements. Genome Medicine 3:4, 23
CrossRef190
Roland Wittler, Cedric Chauve. (2011) Consistency-based detection of potential tumor-specific deletions in matched normal/tumor genomes. BMC Bioinformatics 12:Suppl 9, S21
CrossRef191
Lucio Luzzatto. (2011) Somatic mutations in cancer development. Environmental Health 10:Suppl 1, S12
CrossRef192
Joanna D Holbrook, Joel S Parker, Kathleen T Gallagher, Wendy S Halsey, Ashley M Hughes, Victor J Weigman, Peter F Lebowitz, Rakesh Kumar. (2011) Deep sequencing of gastric carcinoma reveals somatic mutations relevant to personalized medicine. Journal of Translational Medicine 9:1, 119
CrossRef193
Lucio Luzzatto. (2011) Correction: Somatic mutations in cancer development. Environmental Health 10:Suppl 1, S16
CrossRef194
Timothy A. Graubert, Elaine R. Mardis. (2011) Genomics of Acute Myeloid Leukemia. The Cancer Journal 17:6, 487-491
CrossRef195
P Van Vlierberghe, J Patel, O Abdel-Wahab, C Lobry, C V Hedvat, M Balbin, C Nicolas, A R Payer, H F Fernandez, M S Tallman, E Paietta, A Melnick, P Vandenberghe, F Speleman, I Aifantis, J Cools, R Levine, A Ferrando. (2011) PHF6 mutations in adult acute myeloid leukemia. Leukemia 25:1, 130-134
CrossRef196
Jae-Woo Chung, Hyun-Sook Chi, Eun-Hye Lee, Seongsoo Jang, Eul-Ju Seo, Chan-Jeoung Park. (2011) Serial Determination of FLT3-ITD and NPM1 Mutations and Its Clinical Significance in Patients with MDS at Diagnosis and After Progression to AML with Myelodysplasia-related Changes. Laboratory Medicine Online 1:3, 138
CrossRef197
Karen K. Mestan, Leonard Ilkhanoff, Samdeep Mouli, Simon Lin. (2011) Genomic Sequencing in Clinical Trials. Journal of Translational Medicine 9:1, 222
CrossRef198
SD Boyd, DA Arber. 2011. Acute myeloid leukemias. , 273-288.
CrossRef199
Ley, Timothy J., Ding, Li, Walter, Matthew J., McLellan, Michael D., Lamprecht, Tamara, Larson, David E., Kandoth, Cyriac, Payton, Jacqueline E., Baty, Jack, Welch, John, Harris, Christopher C., Lichti, Cheryl F., Townsend, R. Reid, Fulton, Robert S., Dooling, David J., Koboldt, Daniel C., Schmidt, Heather, Zhang, Qunyuan, Osborne, John R., Lin, Ling, O'Laughlin, Michelle, McMichael, Joshua F., Delehaunty, Kim D., McGrath, Sean D., Fulton, Lucinda A., Magrini, Vincent J., Vickery, Tammi L., Hundal, Jasreet, Cook, Lisa L.Conyers, Joshua J.Swift, Gary W., Reed, Jerry P., Alldredge, Patricia A., Wylie, Todd, Walker, Jason, Kalicki, Joelle, Watson, Mark A., Heath, SharonShannon, William D., Varghese, Nobish, Nagarajan, Rakesh, Westervelt, Peter, Tomasson, Michael H., Link, Daniel C., Graubert, Timothy A., DiPersio, John F., Mardis, Elaine R., Wilson, Richard K., . (2010) DNMT3A Mutations in Acute Myeloid Leukemia. New England Journal of Medicine 363:25, 2424-2433
Full Text200
Shannon, Kevin, Armstrong, Scott A., . (2010) Genetics, Epigenetics, and Leukemia. New England Journal of Medicine 363:25, 2460-2461
Full Text201
S. Schnittger, C. Haferlach, M. Ulke, T. Alpermann, W. Kern, T. Haferlach. (2010) IDH1 mutations are detected in 6.6% of 1414 AML patients and are associated with intermediate risk karyotype and unfavorable prognosis in adults younger than 60 years and unmutated NPM1 status. Blood 116:25, 5486-5496
CrossRef202
Chee Seng Ku, Nasheen Naidoo, Mikael Hartman, Yudi Pawitan. 2010. Cancer Genome Sequencing. .
CrossRef203
K E Yen, M A Bittinger, S M Su, V R Fantin. (2010) Cancer-associated IDH mutations: biomarker and therapeutic opportunities. Oncogene 29:49, 6409-6417
CrossRef204
Ivana Jeziskova, Filip Razga, Monika Bajerova, Zdenek Racil, Jiri Mayer, Dana Dvorakova. (2010) IDH2 mutations in patients with acute myeloid leukemia: missense p.R140 mutations are linked to disease status. Leukemia & Lymphoma 51:12, 2285-2287
CrossRef205
Elizabeth A. Eklund, Pradip Raychaudhuri, Leonidas C. Platanias. (2010) Correlation between IDH2 mutations and disease status in acute myeloid leukemia. Leukemia & Lymphoma 51:12, 2157-2158
CrossRef206
J. M. Foran. (2010) New Prognostic Markers in Acute Myeloid Leukemia: Perspective from the Clinic. Hematology 2010:1, 47-55
CrossRef207
Maria E. Figueroa, Omar Abdel-Wahab, Chao Lu, Patrick S. Ward, Jay Patel, Alan Shih, Yushan Li, Neha Bhagwat, Aparna Vasanthakumar, Hugo F. Fernandez, Martin S. Tallman, Zhuoxin Sun, Kristy Wolniak, Justine K. Peeters, Wei Liu, Sung E. Choe, Valeria R. Fantin, Elisabeth Paietta, Bob Löwenberg, Jonathan D. Licht, Lucy A. Godley, Ruud Delwel, Peter J.M. Valk, Craig B. Thompson, Ross L. Levine, Ari Melnick. (2010) Leukemic IDH1 and IDH2 Mutations Result in a Hypermethylation Phenotype, Disrupt TET2 Function, and Impair Hematopoietic Differentiation. Cancer Cell 18:6, 553-567
CrossRef208
D Caramazza, T L Lasho, C M Finke, N Gangat, D Dingli, R A Knudson, S Siragusa, C A Hanson, A Pardanani, R P Ketterling, A Tefferi. (2010) IDH mutations and trisomy 8 in myelodysplastic syndromes and acute myeloid leukemia. Leukemia 24:12, 2120-2122
CrossRef209
T. David Bourne, David Schiff. (2010) Update on molecular findings, management and outcome in low-grade gliomas. Nature Reviews Neurology 6:12, 695-701
CrossRef210
Sham Mailankody, Esther Mena, Constance M. Yuan, Arun Balakumaran, W. Michael Kuehl, Ola Landgren. (2010) Molecular and biologic markers of progression in monoclonal gammopathy of undetermined significance to multiple myeloma. Leukemia & Lymphoma 51:12, 2159-2170
CrossRef211
Felicitas Thol, Arnold Ganser. (2010) Molecular pathogenesis of acute myeloid leukemia: A diverse disease with new perspectives. Frontiers of Medicine in China 4:4, 356-362
CrossRef212
M. P. Martelli, V. Pettirossi, C. Thiede, E. Bonifacio, F. Mezzasoma, D. Cecchini, R. Pacini, A. Tabarrini, R. Ciurnelli, I. Gionfriddo, N. Manes, R. Rossi, L. Giunchi, U. Oelschlagel, L. Brunetti, M. Gemei, M. Delia, G. Specchia, A. Liso, M. Di Ianni, F. Di Raimondo, F. Falzetti, L. Del Vecchio, M. F. Martelli, B. Falini. (2010) CD34+ cells from AML with mutated NPM1 harbor cytoplasmic mutated nucleophosmin and generate leukemia in immunocompromised mice. Blood 116:19, 3907-3922
CrossRef213
S. P. Whitman, K. Maharry, M. D. Radmacher, H. Becker, K. Mrozek, D. Margeson, K. B. Holland, Y.-Z. Wu, S. Schwind, K. H. Metzeler, J. Wen, M. R. Baer, B. L. Powell, T. H. Carter, J. E. Kolitz, M. Wetzler, J. O. Moore, R. M. Stone, A. J. Carroll, R. A. Larson, M. A. Caligiuri, G. Marcucci, C. D. Bloomfield. (2010) FLT3 internal tandem duplication associates with adverse outcome and gene- and microRNA-expression signatures in patients 60 years of age or older with primary cytogenetically normal acute myeloid leukemia: a Cancer and Leukemia Group B study. Blood 116:18, 3622-3626
CrossRef214
Yang Zou, Yun Zeng, Deng-Feng Zhang, Shan-Hua Zou, Yun-Feng Cheng, Yong-Gang Yao. (2010) IDH1 and IDH2 mutations are frequent in Chinese patients with acute myeloid leukemia but rare in other types of hematological disorders. Biochemical and Biophysical Research Communications 402:2, 378-383
CrossRef215
Emma Scott, Elizabeth Hexner, Alexander Perl, Martin Carroll. (2010) Targeted Signal Transduction Therapies in Myeloid Malignancies. Current Oncology Reports 12:6, 358-365
CrossRef216
H. J. Abel, E. J. Duncavage, N. Becker, J. R. Armstrong, V. J. Magrini, J. D. Pfeifer. (2010) SLOPE: a quick and accurate method for locating non-SNP structural variation from targeted next-generation sequence data. Bioinformatics 26:21, 2684-2688
CrossRef217
David J. McBride, Arto K. Orpana, Christos Sotiriou, Heikki Joensuu, Philip J. Stephens, Laura J. Mudie, Eija Hämäläinen, Lucy A. Stebbings, Leif C. Andersson, Adrienne M. Flanagan, Virginie Durbecq, Michail Ignatiadis, Olli Kallioniemi, Caroline A. Heckman, Kari Alitalo, Henrik Edgren, P. Andrew Futreal, Michael R. Stratton, Peter J. Campbell. (2010) Use of cancer-specific genomic rearrangements to quantify disease burden in plasma from patients with solid tumors. Genes, Chromosomes and Cancer 49:11, 1062-1069
CrossRef218
Vincenza Barresi, Alessandra Romano, Nicolò Musso, Carmela Capizzi, Carla Consoli, Maria Paola Martelli, Giuseppe Palumbo, Francesco Di Raimondo, Daniele F. Condorelli. (2010) Broad copy neutral-loss of heterozygosity regions and rare recurring copy number abnormalities in normal karyotype-acute myeloid leukemia genomes. Genes, Chromosomes and Cancer 49:11, 1014-1023
CrossRef219
Leopold Sellner, David Capper, Jochen Meyer, Claus-Dieter Langhans, Christine-Maria Hartog, Heike Pfeifer, Hubert Serve, Anthony D. Ho, Jürgen G. Okun, Alwin Krämer, Andreas Von Deimling. (2010) Increased levels of 2-hydroxyglutarate in AML patients with IDH1-R132H and IDH2-R140Q mutations. European Journal of Haematology 85:5, 457-459
CrossRef220
Bei Yang, Chen Zhong, Yingjie Peng, Zheng Lai, Jianping Ding. (2010) Molecular mechanisms of “off-on switch” of activities of human IDH1 by tumor-associated mutation R132H. Cell Research 20:11, 1188-1200
CrossRef221
Christopher D Watt, Adam Bagg. (2010) Molecular diagnosis of acute myeloid leukemia. Expert Review of Molecular Diagnostics 10:8, 993-1012
CrossRef222
Peter J. Campbell, Shinichi Yachida, Laura J. Mudie, Philip J. Stephens, Erin D. Pleasance, Lucy A. Stebbings, Laura A. Morsberger, Calli Latimer, Stuart McLaren, Meng-Lay Lin, David J. McBride, Ignacio Varela, Serena A. Nik-Zainal, Catherine Leroy, Mingming Jia, Andrew Menzies, Adam P. Butler, Jon W. Teague, Constance A. Griffin, John Burton, Harold Swerdlow, Michael A. Quail, Michael R. Stratton, Christine Iacobuzio-Donahue, P. Andrew Futreal. (2010) The patterns and dynamics of genomic instability in metastatic pancreatic cancer. Nature 467:7319, 1109-1113
CrossRef223
I. Bozic, T. Antal, H. Ohtsuki, H. Carter, D. Kim, S. Chen, R. Karchin, K. W. Kinzler, B. Vogelstein, M. A. Nowak. (2010) From the Cover: Accumulation of driver and passenger mutations during tumor progression. Proceedings of the National Academy of Sciences 107:43, 18545-18550
CrossRef224
N. Bhagwat, R. L. Levine. (2010) Metabolic Syndromes and Malignant Transformation: Where the Twain Shall Meet. Science Translational Medicine 2:54, 54ps50-54ps50
CrossRef225
L. Ding, M. C. Wendl, D. C. Koboldt, E. R. Mardis. (2010) Analysis of next-generation genomic data in cancer: accomplishments and challenges. Human Molecular Genetics 19:R2, R188-R196
CrossRef226
C. L. Green, C. M. Evans, R. K. Hills, A. K. Burnett, D. C. Linch, R. E. Gale. (2010) The prognostic significance of IDH1 mutations in younger adult patients with acute myeloid leukemia is dependent on FLT3/ITD status. Blood 116:15, 2779-2782
CrossRef227
Jane E. Churpek, Kenan Onel. (2010) Heritability of Hematologic Malignancies: From Pedigrees to Genomics. Hematology/Oncology Clinics of North America 24:5, 939-972
CrossRef228
Edward J. Fox, Lawrence A. Loeb. (2010) Lethal Mutagenesis: Targeting the Mutator Phenotype in Cancer. Seminars in Cancer Biology 20:5, 353-359
CrossRef229
Joe Shuga, Yong Zeng, Richard Novak, Richard A. Mathies, Pierre Hainaut, Martyn T. Smith. (2010) Selected technologies for measuring acquired genetic damage in humans. Environmental and Molecular Mutagenesis 51:8-9, 851-870
CrossRef230
Eunice S. Wang, Sheila N.J. Sait, David Gold, Terry Mashtare, Petr Starostik, Laurie Ann Ford, Meir Wetzler, Norma J. Nowak, George Deeb. (2010) Genomic, immunophenotypic, and NPM1/FLT3 mutational studies on 17 patients with normal karyotype acute myeloid leukemia (AML) followed by aberrant karyotype AML at relapse. Cancer Genetics and Cytogenetics 202:2, 101-107
CrossRef231
Matthew Meyerson, Stacey Gabriel, Gad Getz. (2010) Advances in understanding cancer genomes through second-generation sequencing. Nature Reviews Genetics 11:10, 685-696
CrossRef232
Jean-Sébastien Hoffmann, Christophe Cazaux. (2010) Aberrant expression of alternative DNA polymerases: A source of mutator phenotype as well as replicative stress in cancer. Seminars in Cancer Biology 20:5, 312-319
CrossRef233
Robert A. Beckman. (2010) Efficiency of carcinogenesis: Is the mutator phenotype inevitable?. Seminars in Cancer Biology 20:5, 340-352
CrossRef234
J R Collins-Underwood, C G Mullighan. (2010) Genomic profiling of high-risk acute lymphoblastic leukemia. Leukemia 24:10, 1676-1685
CrossRef235
P. Van Loo, S. H. Nordgard, O. C. Lingjaerde, H. G. Russnes, I. H. Rye, W. Sun, V. J. Weigman, P. Marynen, A. Zetterberg, B. Naume, C. M. Perou, A.-L. Borresen-Dale, V. N. Kristensen. (2010) Allele-specific copy number analysis of tumors. Proceedings of the National Academy of Sciences 107:39, 16910-16915
CrossRef236
S. Abbas, S. Lugthart, F. G. Kavelaars, A. Schelen, J. E. Koenders, A. Zeilemaker, W. J. L. van Putten, A. W. Rijneveld, B. Lowenberg, P. J. M. Valk. (2010) Acquired mutations in the genes encoding IDH1 and IDH2 both are recurrent aberrations in acute myeloid leukemia: prevalence and prognostic value. Blood 116:12, 2122-2126
CrossRef237
D. C. Koboldt, L. Ding, E. R. Mardis, R. K. Wilson. (2010) Challenges of sequencing human genomes. Briefings in Bioinformatics 11:5, 484-498
CrossRef238
Lenny Dang, Shengfang Jin, Shinsan M. Su. (2010) IDH mutations in glioma and acute myeloid leukemia. Trends in Molecular Medicine 16:9, 387-397
CrossRef239
Masao Seto. (2010) Genomic profiles in B cell lymphoma. International Journal of Hematology 92:2, 238-245
CrossRef240
Prue A. Cowin, Michael Anglesio, Dariush Etemadmoghadam, David D.L. Bowtell. (2010) Profiling the Cancer Genome. Annual Review of Genomics and Human Genetics 11:1, 133-159
CrossRef241
Robert E. Rogers, Ralph J. DeBerardinis, Laura J. Klesse, Richard L. Boriack, Linda R. Margraf, Dinesh Rakheja. (2010) Wilms Tumor in a Child with L-2-hydroxyglutaric Aciduria. Pediatric and Developmental Pathology 13:5, 408-411
CrossRef242
K. Robison. (2010) Application of second-generation sequencing to cancer genomics. Briefings in Bioinformatics 11:5, 524-534
CrossRef243
Mindaugas Andrulis, David Capper, Thomas Luft, Christian Hartmann, Hanswalter Zentgraf, Andreas von Deimling. (2010) Detection of isocitrate dehydrogenase 1 mutation R132H in myelodysplastic syndrome by mutation-specific antibody and direct sequencing. Leukemia Research 34:8, 1091-1093
CrossRef244
Alain Bernheim. (2010) Cytogenomics of cancers: From chromosome to sequence. Molecular Oncology 4:4, 309-322
CrossRef245
F. Thol, F. Damm, K. Wagner, G. Gohring, B. Schlegelberger, D. Hoelzer, M. Lubbert, W. Heit, L. Kanz, G. Schlimok, A. Raghavachar, W. Fiedler, H. Kirchner, G. Heil, M. Heuser, J. Krauter, A. Ganser. (2010) Prognostic impact of IDH2 mutations in cytogenetically normal acute myeloid leukemia. Blood 116:4, 614-616
CrossRef246
W.-C. Chou, Y.-N. Huang, C.-F. Huang, M.-H. Tseng, H.-F. Tien. (2010) A single-tube, sensitive multiplex method for screening of isocitrate dehydrogenase 1 (IDH1) mutations. Blood 116:3, 495-496
CrossRef247
Z. J. Reitman, H. Yan. (2010) Isocitrate Dehydrogenase 1 and 2 Mutations in Cancer: Alterations at a Crossroads of Cellular Metabolism. JNCI Journal of the National Cancer Institute 102:13, 932-941
CrossRef248
Giselle Y. Lopez, Zachary J. Reitman, David Solomon, Todd Waldman, Darell D. Bigner, Roger E. McLendon, Steven A Rosenberg, Yardena Samuels, Hai Yan. (2010) IDH1R132 mutation identified in one human melanoma metastasis, but not correlated with metastases to the brain. Biochemical and Biophysical Research Communications 398:3, 585-587
CrossRef249
M M Patnaik, T L Lasho, C M Finke, N Gangat, D Caramazza, S G Holtan, A Pardanani, R A Knudson, R P Ketterling, D Chen, J D Hoyer, C A Hanson, A Tefferi. (2010) WHO-defined ‘myelodysplastic syndrome with isolated del(5q)’ in 88 consecutive patients: survival data, leukemic transformation rates and prevalence of JAK2, MPL and IDH mutations. Leukemia 24:7, 1283-1289
CrossRef250
Craig Horbinski, Lindsey Kelly, Yuri E. Nikiforov, Mary Beth Durso, Marina N. Nikiforova. (2010) Detection of IDH1 and IDH2 Mutations by Fluorescence Melting Curve Analysis as a Diagnostic Tool for Brain Biopsies. The Journal of Molecular Diagnostics 12:4, 487-492
CrossRef251
Yaron Tomer. (2010) Genetic Susceptibility to Autoimmune Thyroid Disease: Past, Present, and Future. Thyroid 20:7, 715-725
CrossRef252
David Wrench, Silvia Montoto, Jude Fitzgibbon. (2010) Molecular signatures in the diagnosis and management of follicular lymphoma. Current Opinion in Hematology 17:4, 333-340
CrossRef253
R Jäger, H Gisslinger, F Passamonti, E Rumi, T Berg, B Gisslinger, D Pietra, A Harutyunyan, T Klampfl, D Olcaydu, M Cazzola, R Kralovics. (2010) Deletions of the transcription factor Ikaros in myeloproliferative neoplasms. Leukemia 24:7, 1290-1298
CrossRef254
A Tefferi, T L Lasho, O Abdel-Wahab, P Guglielmelli, J Patel, D Caramazza, L Pieri, C M Finke, O Kilpivaara, M Wadleigh, M Mai, R F McClure, D G Gilliland, R L Levine, A Pardanani, A M Vannucchi. (2010) IDH1 and IDH2 mutation studies in 1473 patients with chronic-, fibrotic- or blast-phase essential thrombocythemia, polycythemia vera or myelofibrosis. Leukemia 24:7, 1302-1309
CrossRef255
A Pardanani, M M Patnaik, T L Lasho, M Mai, R A Knudson, C Finke, R P Ketterling, R F McClure, A Tefferi. (2010) Recurrent IDH mutations in high-risk myelodysplastic syndrome or acute myeloid leukemia with isolated del(5q). Leukemia 24:7, 1370-1372
CrossRef256
Zachary J. Reitman, Natasha J. Olby, Christopher L. Mariani, Rachael Thomas, Matthew Breen, Darell D. Bigner, Roger E. McLendon, Hai Yan. (2010) IDH1 and IDH2 hotspot mutations are not found in canine glioma. International Journal of Cancer 127:1, 245-246
CrossRef257
Yin Cheng, Jun Wang, Jiaofang Shao, Qiyun Chen, Fan Mo, Liang Ma, Xu Han, Jing Zhang, Chen Chen, Cixiong Zhang, Shuyong Lin, Jiekai Yu, Shu Zheng, Sheng-Cai Lin, Biaoyang Lin. (2010) Identification of Novel SNPs by Next-Generation Sequencing of the Genomic Region Containing the APC Gene in Colorectal Cancer Patients in China. OMICS: A Journal of Integrative Biology 14:3, 315-325
CrossRef258
A Pardanani, T L Lasho, C M Finke, M Mai, R F McClure, A Tefferi. (2010) IDH1 and IDH2 mutation analysis in chronic- and blast-phase myeloproliferative neoplasms. Leukemia 24:6, 1146-1151
CrossRef259
Yuejun Fu, Rui Huang, Jun Du, Renjia Yang, Na An, Aihua Liang. (2010) Glioma-derived mutations in IDH: From mechanism to potential therapy. Biochemical and Biophysical Research Communications 397:2, 127-130
CrossRef260
Richard Wooster, Kurtis E Bachman. (2010) Catalogue, cause, complexity and cure; the many uses of cancer genome sequence. Current Opinion in Genetics & Development 20:3, 336-341
CrossRef261
A Tefferi. (2010) Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1. Leukemia 24:6, 1128-1138
CrossRef262
Ralph J DeBerardinis. (2010) 2010 Keystone Symposium: Metabolism and Cancer Progression. Future Oncology 6:6, 893-895
CrossRef263
B A Burke, M Carroll. (2010) BCR–ABL: a multi-faceted promoter of DNA mutation in chronic myelogeneous leukemia. Leukemia 24:6, 1105-1112
CrossRef264
S. Heinrichs, C. Li, A. T. Look. (2010) SNP array analysis in hematologic malignancies: avoiding false discoveries. Blood 115:21, 4157-4161
CrossRef265
William Lee, Zhaoshi Jiang, Jinfeng Liu, Peter M. Haverty, Yinghui Guan, Jeremy Stinson, Peng Yue, Yan Zhang, Krishna P. Pant, Deepali Bhatt, Connie Ha, Stephanie Johnson, Michael I. Kennemer, Sankar Mohan, Igor Nazarenko, Colin Watanabe, Andrew B. Sparks, David S. Shames, Robert Gentleman, Frederic J. de Sauvage, Howard Stern, Ajay Pandita, Dennis G. Ballinger, Radoje Drmanac, Zora Modrusan, Somasekar Seshagiri, Zemin Zhang. (2010) The mutation spectrum revealed by paired genome sequences from a lung cancer patient. Nature 465:7297, 473-477
CrossRef266
B. Falini, K. Macijewski, T. Weiss, U. Bacher, S. Schnittger, W. Kern, A. Kohlmann, H.-U. Klein, M. Vignetti, A. Piciocchi, P. Fazi, M. P. Martelli, A. Vitale, S. Pileri, M. Miesner, A. Santucci, C. Haferlach, F. Mandelli, T. Haferlach. (2010) Multilineage dysplasia has no impact on biologic, clinicopathologic, and prognostic features of AML with mutated nucleophosmin (NPM1). Blood 115:18, 3776-3786
CrossRef267
Jason T. Huse, Eric C. Holland. (2010) Targeting brain cancer: advances in the molecular pathology of malignant glioma and medulloblastoma. Nature Reviews Cancer 10:5, 319-331
CrossRef268
P A Ho, T A Alonzo, K J Kopecky, K L Miller, J Kuhn, R Zeng, R B Gerbing, S C Raimondi, B A Hirsch, V Oehler, C A Hurwitz, J L Franklin, A S Gamis, S H Petersdorf, J E Anderson, G H Reaman, L H Baker, C L Willman, I D Bernstein, J P Radich, F R Appelbaum, D L Stirewalt, S Meshinchi. (2010) Molecular alterations of the IDH1 gene in AML: a Children's Oncology Group and Southwest Oncology Group study. Leukemia 24:5, 909-913
CrossRef269
Timothy J. R. Harris, Frank McCormick. (2010) The molecular pathology of cancer. Nature Reviews Clinical Oncology 7:5, 251-265
CrossRef270
Craig Horbinski. (2010) Practical molecular diagnostics in neuropathology: making a tough job a little easier. Seminars in Diagnostic Pathology 27:2, 105-113
CrossRef271
Marianne Labussiere, Xiao-Wei Wang, Ahmed Idbaih, François Ducray, Marc Sanson. (2010) Prognostic markers in gliomas. Future Oncology 6:5, 733-739
CrossRef272
O Kosmider, V Gelsi-Boyer, L Slama, F Dreyfus, O Beyne-Rauzy, B Quesnel, M Hunault-Berger, B Slama, N Vey, C Lacombe, E Solary, D Birnbaum, O A Bernard, M Fontenay. (2010) Mutations of IDH1 and IDH2 genes in early and accelerated phases of myelodysplastic syndromes and MDS/myeloproliferative neoplasms. Leukemia 24:5, 1094-1096
CrossRef273
Li Ding, Matthew J. Ellis, Shunqiang Li, David E. Larson, Ken Chen, John W. Wallis, Christopher C. Harris, Michael D. McLellan, Robert S. Fulton, Lucinda L. Fulton, Rachel M. Abbott, Jeremy Hoog, David J. Dooling, Daniel C. Koboldt, Heather Schmidt, Joelle Kalicki, Qunyuan Zhang, Lei Chen, Ling Lin, Michael C. Wendl, Joshua F. McMichael, Vincent J. Magrini, Lisa Cook, Sean D. McGrath, Tammi L. Vickery, Elizabeth Appelbaum, Katherine DeSchryver, Sherri Davies, Therese Guintoli, Li Lin, Robert Crowder, Yu Tao, Jacqueline E. Snider, Scott M. Smith, Adam F. Dukes, Gabriel E. Sanderson, Craig S. Pohl, Kim D. Delehaunty, Catrina C. Fronick, Kimberley A. Pape, Jerry S. Reed, Jody S. Robinson, Jennifer S. Hodges, William Schierding, Nathan D. Dees, Dong Shen, Devin P. Locke, Madeline E. Wiechert, James M. Eldred, Josh B. Peck, Benjamin J. Oberkfell, Justin T. Lolofie, Feiyu Du, Amy E. Hawkins, Michelle D. O’Laughlin, Kelly E. Bernard, Mark Cunningham, Glendoria Elliott, Mark D. Mason, Dominic M. Thompson Jr, Jennifer L. Ivanovich, Paul J. Goodfellow, Charles M. Perou, George M. Weinstock, Rebecca Aft, Mark Watson, Timothy J. Ley, Richard K. Wilson, Elaine R. Mardis. (2010) Genome remodelling in a basal-like breast cancer metastasis and xenograft. Nature 464:7291, 999-1005
CrossRef274
Thomas J. Hudson (Chairperson), Warwick Anderson, Axel Aretz, Anna D. Barker, Cindy Bell, Rosa R. Bernabé, M. K. Bhan, Fabien Calvo, Iiro Eerola, Daniela S. Gerhard, Alan Guttmacher, Mark Guyer, Fiona M. Hemsley, Jennifer L. Jennings, David Kerr, Peter Klatt, Patrik Kolar, Jun Kusuda, David P. Lane, Frank Laplace, Youyong Lu, Gerd Nettekoven, Brad Ozenberger, Jane Peterson, T.S. Rao, Jacques Remacle, Alan J. Schafer, Tatsuhiro Shibata, Michael R. Stratton, Joseph G. Vockley, Koichi Watanabe, Huanming Yang, Matthew M. F. Yuen, Bartha M. Knoppers (Leader), Martin Bobrow, Anne Cambon-Thomsen, Lynn G. Dressler, Stephanie O. M. Dyke, Yann Joly, Kazuto Kato, Karen L. Kennedy, Pilar Nicolás, Michael J. Parker, Emmanuelle Rial-Sebbag, Carlos M. Romeo-Casabona, Kenna M. Shaw, Susan Wallace, Georgia L. Wiesner, Nikolajs Zeps, Peter Lichter (Leader), Andrew V. Biankin, Christian Chabannon, Lynda Chin, Bruno Clément, Enrique de Alava, Françoise Degos, Martin L. Ferguson, Peter Geary, D. Neil Hayes, Thomas J. Hudson, Amber L. Johns, Arek Kasprzyk, Hidewaki Nakagawa, Robert Penny, Miguel A. Piris, Rajiv Sarin, Aldo Scarpa, Tatsuhiro Shibata, Marc van de Vijver, P. Andrew Futreal (Leader), Hiroyuki Aburatani, Mónica Bayés, David D.L. Bowtell, Peter J. Campbell, Xavier Estivill, Daniela S. Gerhard, Sean M. Grimmond, Ivo Gut, Martin Hirst, Carlos López-Otín, Partha Majumder, Marco Marra, John D. McPherson, Hidewaki Nakagawa, Zemin Ning, Xose S. Puente, Yijun Ruan, Tatsuhiro Shibata, Michael R. Stratton, Hendrik G. Stunnenberg, Harold Swerdlow, Victor E. Velculescu, Richard K. Wilson, Hong H. Xue, Liu Yang, Paul T. Spellman (Leader), Gary D. Bader, Paul C. Boutros, Peter J. Campbell, Paul Flicek, Gad Getz, Roderic Guigó, Guangwu Guo, David Haussler, Simon Heath, Tim J. Hubbard, Tao Jiang, Steven M. Jones, Qibin Li, Nuria López-Bigas, Ruibang Luo, Lakshmi Muthuswamy, B. F. Francis Ouellette, John V. Pearson, Xose S. Puente, Victor Quesada, Benjamin J. Raphael, Chris Sander, Tatsuhiro Shibata, Terence P. Speed, Lincoln D. Stein, Joshua M. Stuart, Jon W. Teague, Yasushi Totoki, Tatsuhiko Tsunoda, Alfonso Valencia, David A. Wheeler, Honglong Wu, Shancen Zhao, Guangyu Zhou, Lincoln D. Stein (Leader), Roderic Guigó, Tim J. Hubbard, Yann Joly, Steven M. Jones, Arek Kasprzyk, Mark Lathrop, Nuria López-Bigas, B. F. Francis Ouellette, Paul T. Spellman, Jon W. Teague, Gilles Thomas, Alfonso Valencia, Teruhiko Yoshida, Karen L. Kennedy (Leader), Myles Axton, Stephanie O. M. Dyke, P. Andrew Futreal, Daniela S. Gerhard, Chris Gunter, Mark Guyer, Thomas J. Hudson, John D. McPherson, Linda J. Miller, Brad Ozenberger, Kenna M. Shaw, Arek Kasprzyk (Leader), Lincoln D. Stein (Leader), Junjun Zhang, Syed A. Haider, Jianxin Wang, Christina K. Yung, Anthony Cross, Yong Liang, Saravanamuttu Gnaneshan, Jonathan Guberman, Jack Hsu, Martin Bobrow (Leader), Don R. C. Chalmers, Karl W. Hasel, Yann Joly, Terry S. H. Kaan, Karen L. Kennedy, Bartha M. Knoppers, William W. Lowrance, Tohru Masui, Pilar Nicolás, Emmanuelle Rial-Sebbag, Laura Lyman Rodriguez, Catherine Vergely, Teruhiko Yoshida, Sean M. Grimmond (Leader), Andrew V. Biankin, David D. L. Bowtell, Nicole Cloonan, Anna deFazio, James R. Eshleman, Dariush Etemadmoghadam, Brooke A. Gardiner, James G. Kench, Aldo Scarpa, Robert L. Sutherland, Margaret A. Tempero, Nicola J. Waddell, Peter J. Wilson, John D. McPherson (Leader), Steve Gallinger, Ming-Sound Tsao, Patricia A. Shaw, Gloria M. Petersen, Debabrata Mukhopadhyay, Lynda Chin, Ronald A. DePinho, Sarah Thayer, Lakshmi Muthuswamy, Kamran Shazand, Timothy Beck, Michelle Sam, Lee Timms, Vanessa Ballin, Youyong Lu (Leader), Jiafu Ji, Xiuqing Zhang, Feng Chen, Xueda Hu, Guangyu Zhou, Qi Yang, Geng Tian, Lianhai Zhang, Xiaofang Xing, Xianghong Li, Zhenggang Zhu, Yingyan Yu, Jun Yu, Huanming Yang, Mark Lathrop (Leader), Jörg Tost, Paul Brennan, Ivana Holcatova, David Zaridze, Alvis Brazma, Lars Egevad, Egor Prokhortchouk, Rosamonde Elizabeth Banks, Mathias Uhlén, Anne Cambon-Thomsen, Juris Viksna, Fredrik Ponten, Konstantin Skryabin, Michael R. Stratton (Leader), P. Andrew Futreal, Ewan Birney, Ake Borg, Anne-Lise Børresen-Dale, Carlos Caldas, John A. Foekens, Sancha Martin, Jorge S. Reis-Filho, Andrea L. Richardson, Christos Sotiriou, Hendrik G. Stunnenberg, Gilles Thomas, Marc van de Vijver, Laura van’t Veer, Fabien Calvo (Leader), Daniel Birnbaum, Hélène Blanche, Pascal Boucher, Sandrine Boyault, Christian Chabannon, Ivo Gut, Jocelyne D. Masson-Jacquemier, Mark Lathrop, Iris Pauporté, Xavier Pivot, Anne Vincent-Salomon, Eric Tabone, Charles Theillet, Gilles Thomas, Jörg Tost, Isabelle Treilleux, Fabien Calvo (Leader), Paulette Bioulac-Sage, Bruno Clément, Thomas Decaens, Françoise Degos, Dominique Franco, Ivo Gut, Marta Gut, Simon Heath, Mark Lathrop, Didier Samuel, Gilles Thomas, Jessica Zucman-Rossi, Peter Lichter (Leader), Roland Eils (Leader), Benedikt Brors, Jan O. Korbel, Andrey Korshunov, Pablo Landgraf, Hans Lehrach, Stefan Pfister, Bernhard Radlwimmer, Guido Reifenberger, Michael D. Taylor, Christof von Kalle, Partha P. Majumder (Leader), Rajiv Sarin, T. S. Rao, M. K. Bhan, Aldo Scarpa (Leader), Paolo Pederzoli, Rita T. Lawlor, Massimo Delledonne, Alberto Bardelli, Andrew V. Biankin, Sean M. Grimmond, Thomas Gress, David Klimstra, Giuseppe Zamboni, Tatsuhiro Shibata (Leader), Yusuke Nakamura, Hidewaki Nakagawa, Jun Kusuda, Tatsuhiko Tsunoda, Satoru Miyano, Hiroyuki Aburatani, Kazuto Kato, Akihiro Fujimoto, Teruhiko Yoshida, Elias Campo (Leader), Carlos López-Otín, Xavier Estivill, Roderic Guigó, Silvia de Sanjosé, Miguel A. Piris, Emili Montserrat, Marcos González-Díaz, Xose S. Puente, Pedro Jares, Alfonso Valencia, Heinz Himmelbaue, Victor Quesada, Silvia Bea, Michael R. Stratton (Leader), P. Andrew Futreal, Peter J. Campbell, Anne Vincent-Salomon, Andrea L. Richardson, Jorge S. Reis-Filho, Marc van de Vijver, Gilles Thomas, Jocelyne D. Masson-Jacquemier, Samuel Aparicio, Ake Borg, Anne-Lise Børresen-Dale, Carlos Caldas, John A. Foekens, Hendrik G. Stunnenberg, Laura van’t Veer, Douglas F. Easton, Paul T. Spellman, Sancha Martin, Anna D. Barker, Lynda Chin, Francis S. Collins, Carolyn C. Compton, Martin L. Ferguson, Daniela S. Gerhard, Gad Getz, Chris Gunter, Alan Guttmacher, Mark Guyer, D. Neil Hayes, Eric S. Lander, Brad Ozenberger, Robert Penny, Jane Peterson, Chris Sander, Kenna M. Shaw, Terence P. Speed, Paul T. Spellman, Joseph G. Vockley, David A. Wheeler, Richard K. Wilson, Thomas J. Hudson (Chairperson), Lynda Chin, Bartha M. Knoppers, Eric S. Lander, Peter Lichter, Lincoln D. Stein, Michael R. Stratton, Warwick Anderson, Anna D. Barker, Cindy Bell, Martin Bobrow, Wylie Burke, Francis S. Collins, Carolyn C. Compton, Ronald A. DePinho, Douglas F. Easton, P. Andrew Futreal, Daniela S. Gerhard, Anthony R. Green, Mark Guyer, Stanley R. Hamilton, Tim J. Hubbard, Olli P. Kallioniemi, Karen L. Kennedy, Timothy J. Ley, Edison T. Liu, Youyong Lu, Partha Majumder, Marco Marra, Brad Ozenberger, Jane Peterson, Alan J. Schafer, Paul T. Spellman, Hendrik G. Stunnenberg, Brandon J. Wainwright, Richard K. Wilson, Huanming Yang. (2010) International network of cancer genome projects. Nature 464:7291, 993-998
CrossRef275
Heidi Ledford. (2010) Big science: The cancer genome challenge. Nature 464:7291, 972-974
CrossRef276
O. Abdel-Wahab, R. L. Levine. (2010) Metabolism and the leukemic stem cell. Journal of Experimental Medicine 207:4, 677-680
CrossRef277
W. C. Chou, H. A. Hou, C. Y. Chen, J. L. Tang, M. Yao, W. Tsay, B. S. Ko, S. J. Wu, S. Y. Huang, S. C. Hsu, Y. C. Chen, Y. N. Huang, Y. C. Chang, F. Y. Lee, M. C. Liu, C. W. Liu, M. H. Tseng, C. F. Huang, H. F. Tien. (2010) Distinct clinical and biologic characteristics in adult acute myeloid leukemia bearing the isocitrate dehydrogenase 1 mutation. Blood 115:14, 2749-2754
CrossRef278
Alexander Hoischen, Christian Gilissen, Peer Arts, Nienke Wieskamp, Walter van der Vliet, Sascha Vermeer, Marloes Steehouwer, Petra de Vries, Rowdy Meijer, Jorge Seiqueros, Nine V.A.M. Knoers, Michael F. Buckley, Hans Scheffer, Joris A. Veltman. (2010) Massively parallel sequencing of ataxia genes after array-based enrichment. Human Mutation 31:4, 494-499
CrossRef279
Yukihiko Sonoda, Teiji Tominaga. (2010) 2-hydroxyglutarate accumulation caused by IDH mutation is involved in the formation of malignant gliomas. Expert Review of Neurotherapeutics 10:4, 487-489
CrossRef280
Rafael Bejar, Benjamin L. Ebert. (2010) The Genetic Basis of Myelodysplastic Syndromes. Hematology/Oncology Clinics of North America 24:2, 295-315
CrossRef281
Yuka Sugimoto, Hideki Muramatsu, Hideki Makishima, Courtney Prince, Anna M. Jankowska, Nao Yoshida, Yinyan Xu, Nobuhiro Nishio, Asahito Hama, Hiroshi Yagasaki, Yoshiyuki Takahashi, Koji Kato, Atsushi Manabe, Seiji Kojima, Jaroslaw P. Maciejewski. (2010) Spectrum of molecular defects in juvenile myelomonocytic leukaemia includes ASXL1 mutations. British Journal of Haematology
CrossRef282
Fonnet E. Bleeker, Nadia A. Atai, Simona Lamba, Ard Jonker, Denise Rijkeboer, Klazien S. Bosch, Wikky Tigchelaar, Dirk Troost, W. Peter Vandertop, Alberto Bardelli, Cornelis J. F. Noorden. (2010) The prognostic IDH1 R132 mutation is associated with reduced NADP+-dependent IDH activity in glioblastoma. Acta Neuropathologica 119:4, 487-494
CrossRef283
Jörg Felsberg, Marietta Wolter, Heike Seul, Britta Friedensdorf, Matthias Göppert, Michael C. Sabel, Guido Reifenberger. (2010) Rapid and sensitive assessment of the IDH1 and IDH2 mutation status in cerebral gliomas based on DNA pyrosequencing. Acta Neuropathologica 119:4, 501-507
CrossRef284
(2010) Human genome at ten: The sequence explosion. Nature 464:7289, 670-671
CrossRef285
R. Goya, M. G.F. Sun, R. D. Morin, G. Leung, G. Ha, K. C. Wiegand, J. Senz, A. Crisan, M. A. Marra, M. Hirst, D. Huntsman, K. P. Murphy, S. Aparicio, S. P. Shah. (2010) SNVMix: predicting single nucleotide variants from next-generation sequencing of tumors. Bioinformatics 26:6, 730-736
CrossRef286
Raj Chari, Kelsie L. Thu, Ian M. Wilson, William W. Lockwood, Kim M. Lonergan, Bradley P. Coe, Chad A. Malloff, Adi F. Gazdar, Stephen Lam, Cathie Garnis, Calum E. MacAulay, Carlos E. Alvarez, Wan L. Lam. (2010) Integrating the multiple dimensions of genomic and epigenomic landscapes of cancer. Cancer and Metastasis Reviews 29:1, 73-93
CrossRef287
Martyn T. Smith. (2010) Advances in Understanding Benzene Health Effects and Susceptibility. Annual Review of Public Health 31:1, 133-148
CrossRef288
Zachary J. Reitman, D. Williams Parsons, Hai Yan. (2010) IDH1 and IDH2: Not Your Typical Oncogenes. Cancer Cell 17:3, 215-216
CrossRef289
Sonja C. Lück, Annika C. Russ, Juan Du, Verena Gaidzik, Richard F. Schlenk, Jonathan R. Pollack, Konstanze Döhner, Hartmut Döhner, Lars Bullinger. (2010) KIT mutations confer a distinct gene expression signature in core binding factor leukaemia. British Journal of Haematology 148:6, 925-937
CrossRef290
Patrick S. Ward, Jay Patel, David R. Wise, Omar Abdel-Wahab, Bryson D. Bennett, Hilary A. Coller, Justin R. Cross, Valeria R. Fantin, Cyrus V. Hedvat, Alexander E. Perl, Joshua D. Rabinowitz, Martin Carroll, Shinsan M. Su, Kim A. Sharp, Ross L. Levine, Craig B. Thompson. (2010) The Common Feature of Leukemia-Associated IDH1 and IDH2 Mutations Is a Neomorphic Enzyme Activity Converting α-Ketoglutarate to 2-Hydroxyglutarate. Cancer Cell 17:3, 225-234
CrossRef291
Elizabeth A Eklund. (2010) Genomic analysis of acute myeloid leukemia: potential for new prognostic indicators. Current Opinion in Hematology 17:2, 75-78
CrossRef292
Craig Horbinski. (2010) Authors' Reply. Journal of Neuropathology and Experimental Neurology 69:3, 320-321
CrossRef293
Avaniyapuram Kannan Murugan, Ermal Bojdani, Mingzhao Xing. (2010) Identification and functional characterization of isocitrate dehydrogenase 1 (IDH1) mutations in thyroid cancer. Biochemical and Biophysical Research Communications 393:3, 555-559
CrossRef294
M. J. S. Dyer, T. Akasaka, M. Capasso, P. Dusanjh, Y. F. Lee, E. L. Karran, I. Nagel, I. Vater, G. Cario, R. Siebert. (2010) Immunoglobulin heavy chain locus chromosomal translocations in B-cell precursor acute lymphoblastic leukemia: rare clinical curios or potent genetic drivers?. Blood 115:8, 1490-1499
CrossRef295
S. Gross, R. A. Cairns, M. D. Minden, E. M. Driggers, M. A. Bittinger, H. G. Jang, M. Sasaki, S. Jin, D. P. Schenkein, S. M. Su, L. Dang, V. R. Fantin, T. W. Mak. (2010) Cancer-associated metabolite 2-hydroxyglutarate accumulates in acute myelogenous leukemia with isocitrate dehydrogenase 1 and 2 mutations. Journal of Experimental Medicine 207:2, 339-344
CrossRef296
Green, Anthony, Beer, Philip, . (2010) Somatic Mutations of IDH1 and IDH2 in the Leukemic Transformation of Myeloproliferative Neoplasms. New England Journal of Medicine 362:4, 369-370
Full Text297
H. Dohner, E. H. Estey, S. Amadori, F. R. Appelbaum, T. Buchner, A. K. Burnett, H. Dombret, P. Fenaux, D. Grimwade, R. A. Larson, F. Lo-Coco, T. Naoe, D. Niederwieser, G. J. Ossenkoppele, M. A. Sanz, J. Sierra, M. S. Tallman, B. Lowenberg, C. D. Bloomfield. (2010) Diagnosis and management of acute myeloid leukemia in adults: recommendations from an international expert panel, on behalf of the European LeukemiaNet. Blood 115:3, 453-474
CrossRef298
R L Strausberg, A J G Simpson. (2010) Whole-genome cancer analysis as an approach to deeper understanding of tumour biology. British Journal of Cancer 102:2, 243-248
CrossRef299
Erin D. Pleasance, Philip J. Stephens, Sarah O’Meara, David J. McBride, Alison Meynert, David Jones, Meng-Lay Lin, David Beare, King Wai Lau, Chris Greenman, Ignacio Varela, Serena Nik-Zainal, Helen R. Davies, Gonzalo R. Ordoñez, Laura J. Mudie, Calli Latimer, Sarah Edkins, Lucy Stebbings, Lina Chen, Mingming Jia, Catherine Leroy, John Marshall, Andrew Menzies, Adam Butler, Jon W. Teague, Jonathon Mangion, Yongming A. Sun, Stephen F. McLaughlin, Heather E. Peckham, Eric F. Tsung, Gina L. Costa, Clarence C. Lee, John D. Minna, Adi Gazdar, Ewan Birney, Michael D. Rhodes, Kevin J. McKernan, Michael R. Stratton, P. Andrew Futreal, Peter J. Campbell. (2010) A small-cell lung cancer genome with complex signatures of tobacco exposure. Nature 463:7278, 184-190
CrossRef300
Erin D. Pleasance, R. Keira Cheetham, Philip J. Stephens, David J. McBride, Sean J. Humphray, Chris D. Greenman, Ignacio Varela, Meng-Lay Lin, Gonzalo R. Ordóñez, Graham R. Bignell, Kai Ye, Julie Alipaz, Markus J. Bauer, David Beare, Adam Butler, Richard J. Carter, Lina Chen, Anthony J. Cox, Sarah Edkins, Paula I. Kokko-Gonzales, Niall A. Gormley, Russell J. Grocock, Christian D. Haudenschild, Matthew M. Hims, Terena James, Mingming Jia, Zoya Kingsbury, Catherine Leroy, John Marshall, Andrew Menzies, Laura J. Mudie, Zemin Ning, Tom Royce, Ole B. Schulz-Trieglaff, Anastassia Spiridou, Lucy A. Stebbings, Lukasz Szajkowski, Jon Teague, David Williamson, Lynda Chin, Mark T. Ross, Peter J. Campbell, David R. Bentley, P. Andrew Futreal, Michael R. Stratton. (2010) A comprehensive catalogue of somatic mutations from a human cancer genome. Nature 463:7278, 191-196
CrossRef301
Dimitrios H Roukos. (2010) Novel clinico–genome network modeling for revolutionizing genotype–phenotype-based personalized cancer care. Expert Review of Molecular Diagnostics 10:1, 33-48
CrossRef302
David Capper, Susanne WeiÃert, Jörg Balss, Antje Habel, Jochen Meyer, Diana Jäger, Ulrike Ackermann, Claudia Tessmer, Andrey Korshunov, Hanswalter Zentgraf, Christian Hartmann, Andreas Von Deimling. (2010) Characterization of R132H Mutation-specific IDH1 Antibody Binding in Brain Tumors. Brain Pathology 20:1, 245-254
CrossRef303
Michael L. Metzker. (2010) Sequencing technologies — the next generation. Nature Reviews Genetics 11:1, 31-46
CrossRef304
Lenny Dang, David W. White, Stefan Gross, Bryson D. Bennett, Mark A. Bittinger, Edward M. Driggers, Valeria R. Fantin, Hyun Gyung Jang, Shengfang Jin, Marie C. Keenan, Kevin M. Marks, Robert M. Prins, Patrick S. Ward, Katharine E. Yen, Linda M. Liau, Joshua D. Rabinowitz, Lewis C. Cantley, Craig B. Thompson, Matthew G. Vander Heiden, Shinsan M. Su. (2009) Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. Nature 462:7274, 739-744
CrossRef305
Yukinari Kato, Genglin Jin, Chien-Tsun Kuan, Roger E. McLendon, Hai Yan, Darell D. Bigner. (2009) A monoclonal antibody IMab-1 specifically recognizes IDH1R132H, the most common glioma-derived mutation. Biochemical and Biophysical Research Communications 390:3, 547-551
CrossRef306
C. Haferlach, M. Vignetti, T. Haferlach, B. Falini. (2009) Response: NPM1-mutated AML is an entity irrespective of whether or not chromosomal aberrations are present. Blood 114:20, 4602-4603
CrossRef307
(2009) Interview: Acute myeloid leukemia patient genome interview. Personalized Medicine 6:6, 621-622
CrossRef308
Elaine R Mardis, Jeantine E Lunshof. (2009) A focus on personal genomics. Personalized Medicine 6:6, 603-606
CrossRef309
Matthew J Walter, Timothy A Graubert, John F DiPersio, Elaine R Mardis, Richard K Wilson, Timothy J Ley. (2009) Next-generation sequencing of cancer genomes: back to the future. Personalized Medicine 6:6, 653-662
CrossRef310
David Capper, Hanswalter Zentgraf, Jörg Balss, Christian Hartmann, Andreas Deimling. (2009) Monoclonal antibody specific for IDH1 R132H mutation. Acta Neuropathologica 118:5, 599-601
CrossRef311
Downing, James R., . (2009) Cancer Genomes — Continuing Progress. New England Journal of Medicine 361:11, 1111-1112
Full Text312
K. U. Mir. (2009) Sequencing Genomes: From Individuals to Populations. Briefings in Functional Genomics and Proteomics 8:5, 367-378
CrossRef313
Daphne W Bell. (2009) Our changing view of the genomic landscape of cancer. The Journal of Pathologyn/a-n/a
CrossRef314
D. Grimwade, R. K. Hills. (2009) Independent prognostic factors for AML outcome. Hematology 2009:1, 385-395
CrossRef315
Samuel AJR Aparicio, David G Huntsman. (2009) Does massively parallel DNA resequencing signify the end of histopathology as we know it?. The Journal of Pathologyn/a-n/a
CrossRef
- Glossary
Glossary
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Build 36 of the human reference genome:
The most current version of the assembled human genome reference sequence, available online at the National Center for Biotechnology Information (www.ncbi.nlm.nih.gov/).
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Comparative genomic hybridization (CGH):
A comparison of DNA abundance, throughout the genome, between two DNA samples to identify regions where DNA copies have been gained or lost.
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dbSNP:
A publicly available database of known DNA variants, housed at the National Center for Biotechnology Information (www.ncbi.nlm.nih.gov/SNP).
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Diploid coverage:
A metric used in whole-genome sequencing studies to describe the likelihood of detecting both alleles at any given nucleotide position in a genome.
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Genic:
Regions of the genome that contain genes, including their exons and introns.
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Haploid coverage:
A metric used in whole-genome sequencing studies to describe detection of each nucleotide position in a genome for at least one allele; “1× coverage” is equivalent to the size of the genome (e.g., approximately 3 billion base pairs for the human genome).
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Next-generation sequencing:
A variety of new techniques that have in common the generation of DNA sequence from single molecules of DNA, rather than pools of DNA templates; hundreds of millions of DNA fragments can be sequenced at the same time on a single platform (massively parallel sequencing).
-
Paired-end reads:
DNA sequences that are produced on next-generation sequencing platforms by sequencing both ends of DNA fragments, resulting in higher confidence in assigning the sequence a position in the reference genome and allowing the detection of structural variations.
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Partial uniparental disomy:
An acquired somatic recombination event that causes the duplication of a part of a chromosome from one parent, resulting in a “copy-number neutral” loss of heterozygosity for a chromosomal segment.
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Resequencing:
Obtaining the DNA sequence of additional members of a species for which a completed reference sequence is known and to which comparisons can be made.
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Sequencing run:
The sequence that is generated by a complete Illumina flow cell or a similar next-generation sequencing platform; one sequencing run generates many billions of base pairs of sequence.
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Single-nucleotide polymorphism (SNP):
A position in the genome where some individuals in a population inherit a change in a single nucleotide that differs from the reference genome.
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Single-nucleotide variant (SNV):
A difference in a DNA sequence of a sample at a single position in the genome, as compared with the reference genome; each variant may represent either an inherited or an acquired change.
-
SNP array:
A microarray-based assay system that allows for simultaneous measurement of nucleotide sequence and abundance in a DNA sample at possibly hundreds of thousands of positions in the genome.
-
