Original Article
Screening for the Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer)
N Engl J Med 2005; 352:1851-1860May 5, 2005
- Abstract
Background
Germ-line mutations in the mismatch-repair genes MLH1, MSH2, MSH6, and PMS2 lead to the development of the Lynch syndrome (hereditary nonpolyposis colorectal cancer), conferring a strong susceptibility to cancer. We assessed the frequency of such mutations in patients with colorectal cancer and examined strategies for molecular screening to identify patients with the syndrome.
Methods
Patients with a new diagnosis of colorectal adenocarcinoma at the major hospitals in metropolitan Columbus, Ohio, were eligible for the study. Genotyping of the tumor for microsatellite instability was the primary screening method. Among patients whose screening results were positive for microsatellite instability, we searched for germ-line mutations in the MLH1, MSH2, MSH6, and PMS2 genes with the use of immunohistochemical staining for mismatch-repair proteins, genomic sequencing, and deletion studies. Family members of carriers of the mutations were counseled, and those found to be at risk were offered mutation testing.
Results
Of 1066 patients enrolled in the study, 208 (19.5 percent) had microsatellite instability, and 23 of these patients had a mutation causing the Lynch syndrome (2.2 percent). Among the 23 probands with the Lynch syndrome, 10 were more than 50 years of age and 5 did not meet the Amsterdam criteria or the Bethesda guidelines for the diagnosis of hereditary nonpolyposis colorectal cancer (including the use of age and family history to identify patients at high risk for the Lynch syndrome). Genotyping for microsatellite instability alone and immunohistochemical analysis alone each failed to identify two probands. In the families of 21 of the probands, 117 persons at risk were tested, and of these, 52 had Lynch syndrome mutations and 65 did not.
Conclusions
Routine molecular screening of patients with colorectal adenocarcinoma for the Lynch syndrome identified mutations in patients and their family members that otherwise would not have been detected. These data suggest that the effectiveness of screening with immunohistochemical analysis of the mismatch-repair proteins would be similar to that of the more complex strategy of genotyping for microsatellite instability.
Media in This Article
Figure 1
Analytic Strategy of the Study and Numbers of Patients for Each Analysis.Figure 2
Proposed Strategy for Screening Patients with Colorectal Cancer for Lynch Syndrome Mutations and Mismatch-Repair Deficiency.Article Activity
- Article
Large-scale screening for germ-line mutations that lead to the onset of disease in adulthood is becoming increasingly possible owing to technical advances. Even when screening is technically feasible, however, it does not necessarily follow that it is desirable.1 Issues that affect screening include the accuracy, sensitivity, and specificity of the test, the benefit to the patient, the possibly negative ramifications of the results, and the cost.2 One disease discussed as a plausible candidate for screening is the Lynch syndrome (hereditary nonpolyposis colorectal cancer).1
The Lynch syndrome is caused mainly by mutations in the DNA mismatch-repair genes MLH1, MSH2, MSH6, and PMS2. Heterozygosity for a mutation results in susceptibility to the cancer. The Lynch syndrome can be identified on the basis of age at onset and the characteristics of the family history that fulfill the Amsterdam criteria for the diagnosis of hereditary nonpolyposis colorectal cancer.3,4 The less stringent Bethesda guidelines for this diagnosis have been proposed to help select patients for molecular testing.5,6 Even among persons attending clinics for those at high risk for cancer, the sensitivity of the criteria is only 40 to 80 percent,7 and among unselected patients with colorectal cancer, the sensitivity is 50 percent or less.8,9 Therefore, the strategies for diagnosing the Lynch syndrome need to be improved.
One possible improvement that has been suggested is based on the presence of a germ-line mutation in a mismatch-repair gene. However, because searching for mutations in the four mismatch-repair genes is difficult and expensive, molecular prescreening for microsatellite instability of the patient's tumor has been performed. Microsatellite instability is a hallmark of the Lynch syndrome,10 occurring in more than 90 percent of tumors.11 Microsatellite-instability status is commonly determined by analysis of five genetic markers.12
Aside from prescreening for the Lynch syndrome, testing for microsatellite instability is important because of its prognostic and possible therapeutic implications. Patients with colorectal cancer whose tumors have high-frequency microsatellite instability have a more favorable prognosis, independently of stage at diagnosis, than do patients without microsatellite instability.13 Moreover, according to recent reports, patients with high-frequency microsatellite instability do not benefit from adjuvant chemotherapy with fluorouracil.13,14 Consequently, there is a need to determine the status of microsatellite instability in large series of patients with colorectal cancer.
We undertook this study with two aims. The first was to determine the proportion of patients with colorectal cancer who have the Lynch syndrome and the feasibility of molecular screening for the syndrome through the study of unselected patients with newly diagnosed colorectal cancer. The second was to compare the effectiveness of two different techniques to prescreen for mismatch-repair deficiency, genotyping for microsatellite instability and immunohistochemical analysis.
Methods
Patients
We enrolled 1066 patients with newly diagnosed adenocarcinoma of the colorectum, regardless of age or the presence or absence of a family history of cancer, at six participating hospitals. These hospitals perform the vast majority of operations for colorectal cancer or suspected colorectal cancer in the Columbus, Ohio, metropolitan area (population, 1.5 million). The research protocol and consent form were approved by the institutional review board at each participating hospital, and all patients provided written informed consent. A family medical history, a blood sample of 10 to 20 ml, and a tissue specimen were obtained from each patient.
Samples
DNA and RNA were extracted from the EDTA-preserved blood samples with the use of standard methods. The histologic features of the tumor were reevaluated by analysis of the paraffin-embedded tissue block, and an area containing tumor cells was marked on the block. The proportion of tumor cells in the material used for the extraction of DNA exceeded 50 percent in 95 percent of the cases and exceeded 40 percent in the remaining cases. In addition, an area containing no tumor cells (i.e., normal tissue) was marked on the block. Material from the tumor and normal tissue was obtained by microdissection.
Microsatellite Instability
To determine the microsatellite instability of the tumor, we ascertained the genotypes using five or six polymorphic markers (BAT25, BAT26, D2S123, D5S346, and D18S69 or D17S250 or both) in tumor tissue and unaffected tissue. Results of testing for microsatellite instability were considered positive when an allele was present in the tumor but not in the unaffected tissue. High-frequency microsatellite instability was defined as instability shown by two or more markers, and low-frequency microsatellite instability as instability shown by only one marker; if none of the markers showed instability, the result was considered to be negative.
Immunohistochemical Staining
Immunoperoxidase staining was performed on formalin-fixed tissue.15 The primary antibodies used were MLH1 (1:10 dilution, Pharmingen), MSH2 (1:200, Oncogene Research Products), MSH6 or GTBP (1:300, Transduction Laboratories), and PMS2 (C20) (1:400, Santa Cruz Biotechnology).
Detection of Mutations
To search for germ-line mutations, DNA (obtained from blood or normal colon tissue) was directly sequenced with the use of primers described previously.8,16,17 The sequencing of the MLH1, MSH2, and MSH6 genes covered the promoter regions (MLH1 and MSH2 only), exons, and the intronic regions adjacent to all splice sites. For PMS2, conversion to haploidy (GMP Genetics) and Western blot analysis were used in addition to sequencing.15 In search of potentially missed sequence changes, a proprietary method (Ambry Test, Ambry Genetics) was applied to 150 randomly chosen patients among the 208 patients with microsatellite instability. This method included a scan for mutations in all exons and exon–intron junctions of the MSH2 and MLH1 genes with the use of temporal temperature gradient electrophoresis, after which suspect regions were sequenced. All disease-causing mutations, but no additional ones, were confirmed with the use of this technique. We used multiplex ligation-dependent probe amplification (MLPA) (MRC-Holland) to search for large deletions in the MLH1 and MSH2 genes.18,19
Missense changes in the mismatch-repair genes are common and often pose a formidable problem of interpretation,20,21 because these changes do not necessarily affect the function of the protein. To determine the clinical significance of these changes, we relied on multiple lines of evidence and experiments (described in the Supplementary Appendix, available with the full text of this article at www.nejm.org). When we obtained no clear indication of the pathogenicity of a missense change or of a neutral mutation, we classified it as a variant of uncertain significance for the purpose of this study. However, probands and family members were carefully counseled with regard to the uncertainty of the interpretation and to its consequences.
Methylation of the Promoter Region of MLH1
A region in the 5' part of the promoter region (i.e., the H region) was studied for methylation with the use of the methylation-specific polymerase chain reaction.22 Another region closer to exon 1 (i.e., the D region) was studied with the use of combined bisulfite restriction analysis.23,24
Analytic Strategy
Of the 1066 tumors analyzed for microsatellite instability, only 208 that were considered positive were scrutinized further (Figure 1Figure 1
Analytic Strategy of the Study and Numbers of Patients for Each Analysis.). All tumors considered positive underwent sequencing of the MLH1, MSH2, and MSH6 genes, MLPA deletion analysis of MLH1 and MSH2, immunohistochemical analysis for the four mismatch-repair proteins, and methylation analysis of the MLH1 promoter region. Selected tumors that showed the presence of the MLH1 protein and the absence of the PMS2 protein were analyzed for mutations in the PMS2 gene (Table 1 in the Supplementary Appendix).In addition, in an effort to identify tumors deficient in mismatch-repair proteins that had not been found in the analysis for microsatellite instability, tumors that were negative for microsatellite instability from patients who were at high risk for the Lynch syndrome were studied with the use of immunohistochemical analysis for the MLH1, MSH2, and MSH6 proteins. Of the 858 tumors negative for microsatellite instability, 109 were selected for these additional studies, because the patients were at high risk on the basis of one or more of the following criteria: a diagnosis of colorectal cancer before the age of 50 years, a diagnosis of synchronous or metachronous colorectal or endometrial cancer, and the presence of a first-degree relative with colorectal or endometrial cancer diagnosed at any age. Of the 109 patients, 5 patients (4.6 percent) had an abnormal result on immunohistochemical analysis and therefore underwent both a second microsatellite-instability analysis and sequencing of the suspect gene. In four of these five patients, the tumors were extremely mucinous, and two of these four tumors had high-frequency microsatellite instability when a different area of the tumor with higher cellularity was studied. In these two patients, germ-line mutations were found. We describe these two cases as missed by the analysis for microsatellite instability.
Results
Patients
From April 1999 through August 2004, 1581 patients were enrolled in the study. At the time of the data analysis, 1066 of these patients had undergone molecular evaluation. The mean age among these patients was 62.9 years; 90 percent reported that they were white, and 8 percent reported that they were black, percentages that reflected those in the 2000 report of the U.S. Census Bureau for Ohio.25 Slightly less than half the patients (45 percent) were female.
The study included patients who were seen by approximately 110 physicians. Only 144 patients who were approached declined to participate in the study, with a range of 23 to 70 patients declining at each of the sites. The main reasons given for declining to participate were lack of interest, no family members who were at risk, not wanting to “worry about genetics” or involve family members, and concern about putting insurance coverage at risk.
Microsatellite Instability
High-frequency microsatellite instability was detected in 135 of the 1066 tumors analyzed (12.7 percent), and low-frequency microsatellite instability was detected in 73 tumors (6.8 percent). No mutations were found in patients whose tumors had low-frequency microsatellite instability.
Immunohistochemical Analysis
Immunohistochemical analysis had an excellent sensitivity for the detection of tumors with high-frequency microsatellite instability: 123 of 132 tumors that showed high-frequency microsatellite instability (3 analyses failed because of insufficient tumor material on the slides) also showed abnormalities on immunohistochemical analysis for at least one protein (93.2 percent sensitivity; 95 percent confidence interval, 88.9 to 97.4 percent). The sensitivity of immunohistochemical analysis to pinpoint the affected gene in tumors with deleterious mutations was high: MSH2 was detected in 11 of 12 tumors, the MLH1 gene in 4 of 5, MSH6 in 3 of 3, and PMS2 in 2 of 2. In contrast to high-frequency microsatellite instability, low-frequency microsatellite instability showed rare abnormalities on immunohistochemical analysis — staining showed abnormalities in only 10 of 70 tumors.
Probands with the Lynch Syndrome
There were 23 probands with a deleterious mutation (Table 1Table 1
Characteristics of 23 Patients with Colorectal Cancer and Deleterious Mutations in a Mismatch-Repair Gene.). None of these patients had previously received a diagnosis of the Lynch syndrome. Mutations in MSH2 (13 patients) were more common than mutations in MLH1 (5 patients), MSH6 (3 patients), and PMS2 (2 patients). Five probands had the A→T mutation of intron 5 in the donor splice site of MSH2, which is the most commonly recurring mutation in a mismatch-repair gene in humans.27,28 Six of the patients had had a metachronous tumor when they were younger, and three had synchronous primary colorectal cancers. Among the probands, the mean age at diagnosis was 50.4 years (range, 23 to 87). Had testing been limited to those less than 50 years of age — a commonly applied criterion6 — 10 of the 23 probands would not have been detected. Of the 23 probands, 3 fulfilled the Amsterdam criteria for the diagnosis of the Lynch syndrome,3,4 and an additional 15 fulfilled the Bethesda guidelines for testing.5,6 Five of the 23 probands fulfilled none of these criteria.Pedigree Analysis and Mutational Status of Relatives
Of the 23 probands with colorectal cancer and deleterious mutations, to date 21 have received genetic counseling. As part of the counseling, each of the 21 probands was offered confirmation of the results in our study through testing of a new blood sample in a laboratory approved according to the standards of the Clinical Laboratory Improvement Act. Genetic counseling and testing were offered at no cost to all relatives who were found to be at risk. Among a total of 117 relatives who received counseling and testing, test results were positive for the mutation among 52 relatives and negative among 65 relatives (Table 2Table 2
Results of Testing for the Proband's Mutation among Relatives of 21 Probands.). Of the 52 relatives with positive test results, 14 had had a cancer related to the Lynch syndrome and 38 were unaffected at the time of testing (2 of these 38 relatives subsequently received a diagnosis of cancer).Methylation of the MLH1 Promoter Region
Although the power of immunohistochemical staining to detect hereditary nonpolyposis colorectal cancer is high for the MSH2 and MSH6 proteins, staining for MLH1 and its heterodimer partner PMS2 is often lost in sporadic colorectal cancer due to hypermethylation of the MLH1 promoter region.29 Among the 135 tumors with high-frequency microsatellite instability, 106 showed methylation of the MLH1 promoter region — the H region, the D region, or both. None of the 23 patients with a germ-line mutation, including 7 with mutations in MLH1 or PMS2, showed methylation in the D region (described in the Supplementary Appendix).
Discussion
Our study showed that screening large numbers of patients with colorectal cancer is feasible, and in the setting of this clinical trial, screening was well received by both patients and medical personnel. The study showed that at least 23 of the 1066 patients who underwent testing were found to have a deleterious mutation in a mismatch-repair gene. Thus, the proportion of all colorectal cancers that was due to the Lynch syndrome was at least 2.2 percent. This figure is the highest recorded in the United States and is broadly in accord with the results of several previous studies,6,8,9,30 whereas others have reported lower estimates.21,31,32 All numbers, including ours, are underestimates, because none of the methods for prescreening and detecting mutations are 100 percent sensitive; in this study, a few cases might have been missed. Moreover, among the numerous sequence changes of uncertain interpretation (described in the Supplementary Appendix), some may well be deleterious.
A striking fact was that among the 23 probands with the Lynch syndrome, as many as 10 were more than 50 years of age and only 3 fulfilled the Amsterdam criteria for the syndrome. This finding emphasizes the need to search for the Lynch syndrome outside the typical “high-risk” situation. Extensive counseling of 21 of the 23 probands led to the tracing of pedigrees and family members. Acceptance among family members receiving counseling was excellent, and all but 2 of 119 family members at risk who received counseling chose to accept the offer of testing for the proband's mutation, for 52 of whom the results of testing were positive. These people were referred to their own physicians for high-risk surveillance. Moreover, the results of testing of 65 family members at risk were negative for the mutation, and these people were counseled accordingly.
In the diagnosis of the Lynch syndrome, the key procedure is the sequencing of the mismatch-repair genes for mutations, an undertaking that is demanding and expensive owing not only to laboratory expenses but also to the need for time-consuming interpretation of the sequence tracings. Typically, at least the MLH1, MSH2, and MSH6 genes need to be sequenced when there is no clue to which gene is affected. In large-scale screening, performing this procedure is simply not possible, so prescreening for mismatch-repair deficiency is necessary and has been widely practiced with the use of genotyping for microsatellite instability.5,6,8,12
Both genotyping for microsatellite instability and immunohistochemical analysis require a pathology laboratory and interpretation by experts. Genotyping for microsatellite instability requires a molecular laboratory as well. However, both methods are much less demanding, together amounting to perhaps 1/10 of the effort required for sequencing three genes. Both methods can be used to measure mismatch-repair deficiency, and, given the similar costs of the two methods, the choice between them will depend on such factors as availability and the sensitivity and specificity of the test. Immunohistochemical analysis as the primary screening method (Figure 2Figure 2
Proposed Strategy for Screening Patients with Colorectal Cancer for Lynch Syndrome Mutations and Mismatch-Repair Deficiency.) has several advantages over genotyping for microsatellite instability, in particular the fact that immunohistochemical analysis is available as part of routine services in general pathology laboratories (Figure 3Figure 3
Immunohistochemical Staining for Mismatch-Repair Proteins in Colorectal Adenocarcinoma.). Limiting the primary screening method to immunohistochemical analysis would not require the involvement of a molecular genetics laboratory, nor in 80 percent of cases would a blood sample need to be obtained. With the use of the strategy diagrammed in Figure 2, only about 20 percent of patients will need molecular testing, and well less than 10 percent will need to undergo a search for mutations, often in just one gene. Moreover, tumors that do not stain for MLH1 will need to be sequenced for germ-line mutations only if they do not show methylation. This procedure constitutes a considerable savings of time, effort, and cost over the method used in this study.In our study of 1066 patients, the sensitivity and specificity of genotyping for microsatellite instability, as opposed to immunohistochemical analysis, to detect the Lynch syndrome could have been determined only by performing sequencing, genotyping for microsatellite instability, and immunohistochemical analysis on every sample; but this was not possible, owing to cost constraints. Nevertheless, our results allow us to conclude that the sensitivity of immunohistochemical analysis to detect high-frequency microsatellite instability was appropriate in 123 of 132 samples (93 percent). This result is in line with that of a large study in which immunohistochemical analysis had a 100 percent sensitivity to detect high-frequency microsatellite instability among 1144 patients with colorectal cancer.33 Thus, no great loss in sensitivity will occur if molecular prescreening for microsatellite instability is replaced by immunohistochemical analysis.
With regard to sensitivity to detect the Lynch syndrome, our results show that both methods failed to identify 2 of 23 cases. For the two cases not detected with the use of molecular prescreening for microsatellite instability, the initial results were false negative genotyping in DNA obtained from highly mucinous tumors. For the two cases not detected with the use of immunohistochemical analysis (one with a truncating mutation in MLH1, the other with a truncating mutation in MSH2), there was no obvious explanation for the normal-appearing staining of the respective protein. Given that we could not assess the sensitivity by studying all patients with both methods, the question remains, how many patients with the Lynch syndrome may have been missed among the 749 patients with tumors for which the results of testing for microsatellite instability were negative and that did not undergo immunohistochemical analysis. Only indirect evidence can be invoked. For instance, in studies conducted in Finland, where founder mutations account for more than 50 percent of all diagnoses of the Lynch syndrome, 915 patients with colorectal cancer whose test results were negative for microsatellite instability had no founder mutations on mutation-specific testing.8,9 We estimate that in our study at most a very small number of patients with the Lynch syndrome were missed.
In the United States, the public health perspective on truly large-scale screening for the Lynch syndrome can be illustrated as follows. On the basis of our data, some 2 percent of the 148,000 patients with newly diagnosed colorectal carcinoma7 are carriers of a mutation for the Lynch syndrome (2960 carriers), and among the family members of each proband, 3 more carriers can be detected (8880 carriers). Thus, the proposed screening provides an opportunity to diagnose the Lynch syndrome in 11,840 persons annually in the United States. These numbers are only estimates, and the proposed strategies need to be tested on an even larger scale than the present study. The proposed screening does not primarily target unaffected persons; instead, only probands with cancer are targeted. The search for the Lynch syndrome in these patients may be seen as part of an appropriate clinical workup. The way in which the patient is treated will be profoundly affected in the presence of a diagnosis of the Lynch syndrome. For instance, subtotal colectomy is generally recommended because of the high risk of metachronous tumor,34 and lifelong surveillance for colorectal cancer, endometrial cancer, and other tumors is indicated.35 A clear benefit of intensified clinical surveillance is well documented.36 Testing of family members who are at risk for the syndrome allows triage according to the presence or absence of the mutation.
Finally, patients with tumors with high-frequency microsatellite instability have a better prognosis than those with tumors without microsatellite instability,13 and they may not benefit from fluorouracil-based adjuvant chemotherapy.13,14 Thus, determining the mismatch-repair status (with the use of genotyping for microsatellite instability or immunohistochemical analysis) of all patients with colorectal cancer has prognostic implications and may serve as a guide to optimal chemotherapy.
Supported by grants from the National Institutes of Health (CA67941 and CA16058) and from the State of Ohio Biomedical Research and Technology Transfer Commission. The views expressed in this article are those of the authors and do not necessarily reflect the views of the State of Ohio Biomedical Research and Technology Transfer Commission.
Dr. de la Chapelle reports holding patents for the human MSH2 protein and for diagnostic methods involving MSH2. Dr. Kuebler reports having served as a paid speaker and consultant for Sanofi.
Source Information
From the Human Cancer Genetics Program, Comprehensive Cancer Center (H.H., H.N., K.S., J.W., J.P., D.F., J.L., I.C., A.C.), the Department of Pathology (W.L.F., T.W.P.), the Department of Surgery (E.M., M.A.), and the Department of Medicine (H.H., J.W., I.C., A.C.), Ohio State University; Mount Carmel Health System (K.K.); and Riverside Methodist Hospital (OhioHealth) (P.K.) — all in Columbus.
Address reprint requests to Dr. de la Chapelle at the Human Cancer Genetics Program, 646 Medical Research Facility, 420 W. 12th Ave., Columbus, OH 43210, or at delachapelle-1@medctr.osu.edu.
Additional investigators who participated in this trial are listed in the Appendix.
Appendix
In addition to the authors, the following investigators participated in this study: The Ohio State University Medical Center, Columbus — C. Ellison, S. Melvin, J. Winston III; the Human Cancer Genetics Program, the James Cancer Hospital and Solove Research Institute at Ohio State University, Columbus — A. Adeli, W. Burak, R. Chadwick, I. Elkhatib, T. Hemingway, K. Jamieson, C. Johnson, J. LaJeunesse, S. Liyanarachchi, P. Rangel, D. Soble, M. Walker, T. Wise, Y. Zhang; Ohio State University Hospital East, Columbus — R. Schlanger; Mount Carmel East Medical Center, Columbus, Ohio — P. Aguilar, D. Hura, J. Keith, B. Kerner, G. Lavalle, C. Taylor, T. Vara, J. Zangmeister; Mount Carmel West Medical Center, Columbus, Ohio — S. DeVictor, L. Hines, M. Lindsey, J. Madhavan, A. Padmanabhan; St. Ann's Hospital, Westerville, Ohio — K. Hamelberg, T. Niemann; Riverside Methodist Hospital (OhioHealth), Columbus, Ohio — B.C. Behrens, S.C. Blair, M. Brimer, C.S. George, W.J. Hicks, J.K. Hofmeister, P.J. Kourlas, J.A. Matyas, J. Mitchell, K.E. Nichols, T.J. Sweeney, R.L. Toscano, W.L. Wheeler, W. Wise, T. Williams; Grant Medical Center (OhioHealth), Columbus, Ohio — S. Miller, T.D. Moore; Ambry Genetics, Irvine, Calif. — C.L.M. Dunlop, A. Kammesheidt, J. Schymick; GMP Genetics, Waltham, Mass. — N. Papadopoulos.
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- Citing Articles (262)
Citing Articles
1
K. M. Landsbergen, J. B. Prins, H. G. Brunner, P. Duijvendijk, F. M. Nagengast, J. H. Krieken, M. Ligtenberg, N. Hoogerbrugge. (2012) Psychological distress in newly diagnosed colorectal cancer patients following microsatellite instability testing for Lynch syndrome on the pathologist’s initiative. Familial Cancer
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Paul Ryan, Anna Marie Mulligan, Melyssa Aronson, Sarah E. Ferguson, Bharati Bapat, Kara Semotiuk, Spring Holter, Janice Kwon, Steve E. Kalloger, C. Blake Gilks, Steven Gallinger, Aaron Pollett, Blaise A. Clarke. (2012) Comparison of clinical schemas and morphologic features in predicting Lynch syndrome in mutation-positive patients with endometrial cancer encountered in the context of familial gastrointestinal cancer registries. Cancer 118:3, 681-688
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Celine H.M. Leenen, Margot G.F. van Lier, Helena C. van Doorn, Monique E. van Leerdam, Sjarlot G. Kooi, Judith de Waard, Robert F. Hoedemaeker, Ans M.W. van den Ouweland, Sanne M. Hulspas, Hendrikus J. Dubbink, Ernst J. Kuipers, Anja Wagner, Winand N.M. Dinjens, Ewout W. Steyerberg. (2012) Prospective evaluation of molecular screening for Lynch syndrome in patients with endometrial cancer ≤ 70 years. Gynecologic Oncology
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E. Urso, M. Agostini, S. Pucciarelli, M. Rugge, R. Bertorelle, I. Maretto, C. Bedin, E. D’Angelo, C. Mescoli, M. Zorzi, A. Viel, G. Bruttocao, B. Ferraro, F. Erroi, P. Contin, G. L. Salvo, D. Nitti. (2012) Clinical and molecular detection of inherited colorectal cancers in northeast Italy. Tumor Biology
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Mireia Gausachs, Pilar Mur, Julieta Corral, Marta Pineda, Sara González, Llúcia Benito, Mireia Menéndez, Josep Alfons Espinàs, Joan Brunet, María Dolores Iniesta, Stephen B Gruber, Conxi Lázaro, Ignacio Blanco, Gabriel Capellá. (2012) MLH1 promoter hypermethylation in the analytical algorithm of Lynch syndrome: a cost-effectiveness study. European Journal of Human Genetics
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Emily Steinhagen, Jinru Shia, Arnold J. Markowitz, Zsofia K. Stadler, Erin E. Salo-Mullen, Junting Zheng, Steven A. Lee-Kong, Garrett M. Nash, Kenneth Offit, José G. Guillem. (2012) Systematic Immunohistochemistry Screening for Lynch Syndrome in Early Age-of-Onset Colorectal Cancer Patients Undergoing Surgical Resection. Journal of the American College of Surgeons 214:1, 61-67
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Cecelia A. Bellcross, Sara R. Bedrosian, Elvan Daniels, Debra Duquette, Heather Hampel, Kory Jasperson, Djenaba A. Joseph, Celia Kaye, Ira Lubin, Laurence J. Meyer, Michele Reyes, Maren T. Scheuner, Sheri D. Schully, Leigha Senter, Sherri L. Stewart, Jeanette St. Pierre, Judith Westman, Paul Wise, Vincent W. Yang, Muin J. Khoury. (2012) Implementing screening for Lynch syndrome among patients with newly diagnosed colorectal cancer: summary of a public health/clinical collaborative meeting. Genetics in Medicine 14:1, 152-162
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P Grandval, S Baert-Desurmont, F Bonnet, M Bronner, M-P Buisine, C Colas, T Noguchi, M-O North, J-M Rey, J Tinat, C Toulas, S Olschwang. (2012) Colon-specific phenotype in Lynch syndrome associated with EPCAM deletion. Clinical Geneticsno-no
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William K. Funkhouser, Ira M. Lubin, Federico A. Monzon, Barbara A. Zehnbauer, James P. Evans, Shuji Ogino, Jan A. Nowak. (2012) Relevance, Pathogenesis, and Testing Algorithm for Mismatch Repair–Defective Colorectal Carcinomas. The Journal of Molecular Diagnostics
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Scott M. Weissman, Randall Burt, James Church, Steve Erdman, Heather Hampel, Spring Holter, Kory Jasperson, Matt F. Kalady, Joy Larsen Haidle, Henry T. Lynch, Selvi Palaniappan, Paul E. Wise, Leigha Senter. (2011) Identification of Individuals at Risk for Lynch Syndrome Using Targeted Evaluations and Genetic Testing: National Society of Genetic Counselors and the Collaborative Group of the Americas on Inherited Colorectal Cancer Joint Practice Guideline. Journal of Genetic Counseling
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Francesca Lovat, Nicola Valeri, Carlo M. Croce. (2011) MicroRNAs in the Pathogenesis of Cancer. Seminars in Oncology 38:6, 724-733
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Xavier Llor. (2011) When should we suspect a hereditary colorectal cancer syndrome?. Clinical Gastroenterology and Hepatology
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Lyn Schofield, Fabienne Grieu, Jack Goldblatt, Benhur Amanuel, Barry Iacopetta. (2011) A state-wide population-based program for detection of lynch syndrome based upon immunohistochemical and molecular testing of colorectal tumours. Familial Cancer
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Jane Morrison, Mary Bronner, Brandie H. Leach, Erinn Downs-Kelly, John R. Goldblum, Xiuli Liu. (2011) Lynch syndrome screening in newly diagnosed colorectal cancer in general pathology practice: From the revised Bethesda guidelines to a universal approach. Scandinavian Journal of Gastroenterology 46:11, 1340-1348
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Elena B. Elkin, Deborah A. Marshall, Nathalie A. Kulin, Ilia L. Ferrusi, Michael J. Hassett, Uri Ladabaum, Kathryn A. Phillips. (2011) Economic evaluation of targeted cancer interventions: Critical review and recommendations. Genetics in Medicine 13:10, 853-860
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Katherine B. Geiersbach, Wade S Samowitz. (2011) Microsatellite Instability and Colorectal Cancer. Archives of Pathology & Laboratory Medicine 135:10, 1269-1277
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Omar Khan, Amie Blanco, Peggy Conrad, Cassandra Gulden, Tovah Z Moss, Olufunmilayo I Olopade, Sonia S Kupfer, Jonathan Terdiman. (2011) Performance of Lynch Syndrome Predictive Models in a Multi-Center US Referral Population. The American Journal of Gastroenterology 106:10, 1822-1827
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Noralane M. Lindor, Gloria M. Petersen, Amanda B. Spurdle, Bryony Thompson, David E. Goldgar, Stephen N. Thibodeau. (2011) Pancreatic Cancer and a Novel MSH2 Germline Alteration. Pancreas 40:7, 1138-1140
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K.K. Shih, K. Garg, D.A. Levine, N.D. Kauff, N.R. Abu-Rustum, R.A. Soslow, R.R. Barakat. (2011) Clinicopathologic significance of DNA mismatch repair protein defects and endometrial cancer in women 40years of age and younger. Gynecologic Oncology 123:1, 88-94
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Susan Stuckless, Jane S. Green, Marion Morgenstern, Christine Kennedy, Roger C. Green, Michael O. Woods, William Fitzgerald, Janet Cox, Patrick S. Parfrey. (2011) Impact of Colonoscopic Screening in Male and Female Lynch Syndrome Carriers with an MSH2 Mutation. Clinical Geneticsno-no
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Oana M. Radu, Marina N. Nikiforova, Linda M. Farkas, Alyssa M. Krasinskas. (2011) Challenging cases encountered in colorectal cancer screening for Lynch syndrome reveal novel findings: nucleolar MSH6 staining and impact of prior chemoradiation therapy. Human Pathology 42:9, 1247-1258
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Marie–May Coissieux, Jerneja Tomsic, Marie Castets, Heather Hampel, Sari Tuupanen, Nadine Andrieu, Ilene Comeras, Youenn Drouet, Christine Lasset, Sandya Liyanarachchi, Laetitia Mazelin, Alain Puisieux, Jean–Christophe Saurin, Jean–Yves Scoazec, Qing Wang, Lauri Aaltonen, Stephan M. Tanner, Albert de la Chapelle, Agnès Bernet, Patrick Mehlen. (2011) Variants in the Netrin-1 Receptor UNC5C Prevent Apoptosis and Increase Risk for Familial Colorectal Cancer. Gastroenterology
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Guillaume Canard, Jeremie H. Lefevre, Chrystelle Colas, Florence Coulet, Magali Svrcek, Olivier Lascols, Richard Hamelin, Conor Shields, Alex Duval, Jean-Francois Fléjou, Florent Soubrier, Emmanuel Tiret, Yann Parc. (2011) Screening for Lynch Syndrome in Colorectal Cancer: Are We Doing Enough?. Annals of Surgical Oncology
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N. Whiffin, P. Broderick, S. J. Lubbe, A. M. Pittman, S. Penegar, I. Chandler, R. S. Houlston. (2011) MLH1-93G > A is a risk factor for MSI colorectal cancer. Carcinogenesis 32:8, 1157-1161
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Manish Gala, Daniel C. Chung. (2011) Hereditary Colon Cancer Syndromes. Seminars in Oncology 38:4, 490-499
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Huankai Hu, Alyssa Krasinskas, Joseph Willis. (2011) Perspectives on Current Tumor-Node-Metastasis (TNM) Staging of Cancers of the Colon and Rectum. Seminars in Oncology 38:4, 500-510
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Efrat Dotan, Steven J. Cohen. (2011) Challenges in the Management of Stage II Colon Cancer. Seminars in Oncology 38:4, 511-520
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Amirkaveh Mojtahed, Iris Schrijver, James M Ford, Teri A Longacre, Reetesh K Pai. (2011) A two-antibody mismatch repair protein immunohistochemistry screening approach for colorectal carcinomas, skin sebaceous tumors, and gynecologic tract carcinomas. Modern Pathology 24:7, 1004-1014
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Mineko Murakami, Akiko Mizutani, Shuichiro Asano, Hideki Katakami, Yoshinori Ozawa, Kazuto Yamazaki, Yasuo Ishida, Koji Takano, Hiroko Okinaga, Akira Matsuno. (2011) A Mechanism of Acquiring Temozolomide Resistance During Transformation of Atypical Prolactinoma Into Prolactin-Producing Pituitary Carcinoma: Case Report. Neurosurgery 68:6, E1761-E1767
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Paul J. Limburg, William S. Harmsen, Helen H. Chen, Steven Gallinger, Robert W. Haile, John A. Baron, Graham Casey, Michael O. Woods, Stephen N. Thibodeau, Noralane M. Lindor. (2011) Prevalence of Alterations in DNA Mismatch Repair Genes in Patients With Young-Onset Colorectal Cancer. Clinical Gastroenterology and Hepatology 9:6, 497-502
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Patrick M. Lynch. (2011) How Helpful Is Age at Colorectal Cancer Onset in Finding Hereditary Nonpolyposis Colorectal Cancer?. Clinical Gastroenterology and Hepatology 9:6, 458-460
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Patrizia Lastella, Margherita Patruno, Giovanna Forte, Alba Montanaro, Carmela Gregorio, Carlo Sabbà, Patrizia Suppressa, Adalgisa Piepoli, Anna Panza, Angelo Andriulli, Nicoletta Resta, Alessandro Stella. (2011) Identification and surveillance of 19 Lynch syndrome families in southern Italy: report of six novel germline mutations and a common founder mutation. Familial Cancer 10:2, 285-295
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Maria S Pino, Daniel C Chung. (2011) Microsatellite instability in the management of colorectal cancer. Expert Review of Gastroenterology & Hepatology 5:3, 385-399
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Jonathan S. Berg, Muin J. Khoury, James P. Evans. (2011) Deploying whole genome sequencing in clinical practice and public health: Meeting the challenge one bin at a time. Genetics in Medicine 13:6, 499-504
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P. Manders, L. Spruijt, C.M. Kets, H.W. Willems, D. Bodmer, K.M. Hebeda, I.D. Nagtegaal, J.H.J.M. van Krieken, M.J.L. Ligtenberg, N. Hoogerbrugge. (2011) Young age and a positive family history of colorectal cancer are complementary selection criteria for the identification of Lynch syndrome. European Journal of Cancer 47:9, 1407-1413
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Monica Dandapani, Elena M. Stoffel. (2011) Clinical Management of Families with Hereditary Colorectal Cancer Syndromes. Seminars in Colon and Rectal Surgery 22:2, 100-104
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Bhramar Mukherjee, Gad Rennert, Jaeil Ahn, Sara Dishon, Flavio Lejbkowicz, Hedy S. Rennert, Stacey Shiovitz, Victor Moreno, Stephen B. Gruber. (2011) High Risk of Colorectal and Endometrial Cancer in Ashkenazi Families With the MSH2 A636P Founder Mutation. Gastroenterology 140:7, 1919-1926
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L Raskin, F Schwenter, M Freytsis, M Tischkowitz, N Wong, G Chong, SA Narod, DA Levine, F Bogomolniy, M Aronson, SN Thibodeau, KS Hunt, G Rennert, S Gallinger, SB Gruber, WD Foulkes. (2011) Characterization of two Ashkenazi Jewish founder mutations in MSH6 gene causing Lynch syndrome. Clinical Genetics 79:6, 512-522
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Molly S. Daniels, Jennifer K. Burzawa, Amanda C. Brandt, Kathleen M. Schmeler, Karen H. Lu. (2011) A clinical perspective on genetic counseling and testing during end of life care for women with recurrent progressive ovarian cancer: opportunities and challenges. Familial Cancer 10:2, 193-197
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A. Cerbinskaite, A. Mukhopadhyay, E.R. Plummer, N.J. Curtin, R.J. Edmondson. (2011) Defective homologous recombination in human cancers. Cancer Treatment Reviews
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Patrick M. Lynch. (2011) How Helpful Is Age at Colorectal Cancer Onset in Finding HNPCC?. Diseases of the Colon & Rectum 54:5, 515-517
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Sana Aissi-Ben Moussa, Amel Moussa, Nadia Kourda, Amel Mezlini, Nabil Abdelli, Farid Zerimech, Taoufik Najjar, Sarah Ben Jilani, Nicole Porchet, Farhat Ben Ayed, Mohamed Manai, Marie-Pierre Buisine. (2011) Lynch syndrome in Tunisia: first description of clinical features and germline mutations. International Journal of Colorectal Disease 26:4, 455-467
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Roland P. Kuiper, Lisenka E.L.M. Vissers, Ramprasath Venkatachalam, Danielle Bodmer, Eveline Hoenselaar, Monique Goossens, Aline Haufe, Eveline Kamping, Renée C. Niessen, Frans B.L. Hogervorst, Johan J.P. Gille, Bert Redeker, Carli M.J. Tops, Marielle E. van Gijn, Ans M.W. van den Ouweland, Nils Rahner, Verena Steinke, Philip Kahl, Elke Holinski-Feder, Monika Morak, Matthias Kloor, Susanne Stemmler, Beate Betz, Pierre Hutter, David J. Bunyan, Sapna Syngal, Julie O. Culver, Tracy Graham, Tsun L. Chan, Iris D. Nagtegaal, J. Han J.M van Krieken, Hans K. Schackert, Nicoline Hoogerbrugge, Ad Geurts van Kessel, Marjolijn J.L. Ligtenberg. (2011) Recurrence and variability of germline EPCAM deletions in Lynch syndrome. Human Mutation 32:4, 407-414
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Angus D. Thomson, Raymond Kwok, Martin D. Weltman. (2011) Genetic Evaluation of Polyposis. Current Colorectal Cancer Reports 7:1, 8-15
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Cherlhyun Jeong, Won-Ki Cho, Kyung-Mi Song, Christopher Cook, Tae-Young Yoon, Changill Ban, Richard Fishel, Jong-Bong Lee. (2011) MutS switches between two fundamentally distinct clamps during mismatch repair. Nature Structural & Molecular Biology 18:3, 379-385
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Scott M. Weissman, Cecelia Bellcross, Christina Chimera Bittner, Mary E. Freivogel, Joy Larsen Haidle, Pardeep Kaurah, Anna Leininger, Selvi Palaniappan, Kelle Steenblock, Thuy M. Vu, Molly S. Daniels. (2011) Genetic Counseling Considerations in the Evaluation of Families for Lynch Syndrome—A Review. Journal of Genetic Counseling 20:1, 5-19
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Whitney L Ducaine, Lindsay Dohany, Richard Zekman, Dana Zakalik. (2011) Utilizing microsatellite instability and immunohistochemistry to clinically interpret a novel germline mismatch repair mutation of uncertain significance. Hereditary Cancer in Clinical Practice 9:Suppl 1, P9
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Jessica N Everett, Victoria M Raymond, Michele Gornick, Rajesh S Mangrulkar, Ignacio Blanco, Stephen B Gruber. (2011) Estimating probability of germline mismatch repair mutations in colorectal cancer patients with microsatellite stable tumors. Hereditary Cancer in Clinical Practice 9:Suppl 1, P12
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Jeffrey N. Weitzel, Kathleen R. Blazer, Deborah J. MacDonald, Julie O. Culver, Kenneth Offit. (2011) Genetics, genomics, and cancer risk assessment. CA: A Cancer Journal for Cliniciansn/a-n/a
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Minttu Kansikas, Reetta Kariola, Minna Nyström. (2011) Verification of the three-step model in assessing the pathogenicity of mismatch repair gene variants. Human Mutation 32:1, 107-115
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Kyung Sook Choi, Hack Sun Kim, Jung Ae Park, Joohyun Lee. (2011) Korean Nurses' Knowledge about Hereditary Colorectal Cancer. Journal of Korean Oncology Nursing 11:2, 147
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Jürgen Riemann, Gabriela Möslein. (2011) Hereditäre Tumorerkrankungen des Gastrointestinaltrakts. Viszeralmedizin 27:4, 329-335
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Magali Svrcek, Pascale Cervera, Richard Hamelin, Olivier Lascols, Alex Duval, Jean-François Fléjou. (2011) Cancer colorectal : les nouveaux rôles du pathologiste à l’ère de la biologie moléculaire et des thérapies « ciblées ». Revue Francophone des Laboratoires 2011:428, 29-41
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Kandelaria Rumilla, Karen V. Schowalter, Noralane M. Lindor, Brittany C. Thomas, Kara A. Mensink, Steven Gallinger, Spring Holter, Polly A. Newcomb, John D. Potter, Mark A. Jenkins, John L. Hopper, Tiffany I. Long, Daniel J. Weisenberger, Robert W. Haile, Graham Casey, Peter W. Laird, Loic Le Marchand, Stephen N. Thibodeau. (2011) Frequency of Deletions of EPCAM (TACSTD1) in MSH2-Associated Lynch Syndrome Cases. The Journal of Molecular Diagnostics 13:1, 93-99
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Diana C Darcy, Eleanor T Lewis, Kelly E Ormond, David J Clark, Jodie A Trafton. (2011) Practical considerations to guide development of access controls and decision support for genetic information in electronic medical records. BMC Health Services Research 11:1, 294
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Michel Crépin, Marie-Claire Dieu, Sophie Lejeune, Fabienne Escande, Denis Boidin, Nicole Porchet, Gilles Morin, Sylvie Manouvrier, Michèle Mathieu, Marie-Pierre Buisine. (2011) Evidence of constitutional MLH1 epimutation associated to transgenerational inheritance of cancer susceptibility. Human Mutationn/a-n/a
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Christophe Tresallet, Antoine Brouquet, Catherine Julié, Alain Beauchet, Céline Vallot, Fabrice Ménégaux, Emmanuel Mitry, François Radvanyi, Robert Malafosse, Philippe Rougier, Bernard Nordlinger, Pierre Laurent-Puig, Catherine Boileau, Jean-François Emile, Christine Muti, Christophe Penna, Hélène Hofmann-Radvanyi. (2011) Evaluation of predictive models in daily practice for the identification of patients with Lynch syndrome. International Journal of Cancern/a-n/a
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M. C. Lim, S.-S. Seo, S. Kang, M.-W. Seong, B.-Y. Lee, S.-Y. Park. (2010) Hereditary Non-polyposis Colorectal Cancer/Lynch Syndrome in Korean Patients with Endometrial Cancer. Japanese Journal of Clinical Oncology 40:12, 1121-1127
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Neel B. Shah, Noralane M. Lindor. (2010) Lower Gastrointestinal Tract Cancer Predisposition Syndromes. Hematology/Oncology Clinics of North America 24:6, 1229-1252
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Barry IACOPETTA, Fabienne GRIEU, Benhur AMANUEL. (2010) Microsatellite instability in colorectal cancer. Asia-Pacific Journal of Clinical Oncology 6:4, 260-269
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Angela Hyde, Daniel Fontaine, Susan Stuckless, Roger Green, Aaron Pollett, Michelle Simms, Payal Sipahimalani, Patrick Parfrey, Banfield Younghusband. (2010) A Histology-Based Model for Predicting Microsatellite Instability in Colorectal Cancers. The American Journal of Surgical Pathology 34:12, 1820-1829
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Charis Eng. (2010) Mendelian genetics of rare-and not so rare-cancers. Annals of the New York Academy of Sciences 1214:1, 70-82
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Ajay Goel, Takeshi Nagasaka, Jennifer Spiegel, Richard Meyer, Warren E. Lichliter, C. Richard Boland. (2010) Low Frequency of Lynch Syndrome Among Young Patients With Non-Familial Colorectal Cancer. Clinical Gastroenterology and Hepatology 8:11, 966-971.e1
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Samir Gupta, Raheela Ashfaq, Payal Kapur, Bianca B. Afonso, Thuy-Phuong T. Nguyen, Faryal Ansari, C. Richard Boland, Ajay Goel, Don C. Rockey. (2010) Microsatellite instability among individuals of Hispanic origin with colorectal cancer. Cancer 116:21, 4965-4972
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Michał Skrzycki, Monika Majewska, Hanna Czeczot. (2010) Superoxide dismutase mRNA and protein level in human colorectal cancer. Central European Journal of Biology 5:5, 590-599
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Dale C. Snover. (2010) Maximizing the Value of the Endoscopist–Pathologist Partnership in the Management of Colorectal Polyps and Carcinoma. Gastrointestinal Endoscopy Clinics of North America 20:4, 641-657
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David J. Gallagher, James D. Smith, Kenneth Offit, Zsofia K. Stadler. (2010) Diagnosing Hereditary Colorectal Cancer. Clinical Colorectal Cancer 9:4, 205-211
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Steven A. Lee-Kong, Arnold J. Markowitz, Emily Glogowski, Christopher Papadopoulos, Zsofia Stadler, Martin R. Weiser, Larissa K. Temple, José G. Guillem. (2010) Prospective Immunohistochemical Analysis of Primary Colorectal Cancers for Loss of Mismatch Repair Protein Expression. Clinical Colorectal Cancer 9:4, 255-259
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J. Tomsic, K. Guda, S. Liyanarachchi, H. Hampel, L. Natale, S. D. Markowitz, S. M. Tanner, A. de la Chapelle. (2010) Allele-specific expression of TGFBR1 in colon cancer patients. Carcinogenesis 31:10, 1800-1804
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Katharina Wimmer, Stefanie Kalb, Peter Schütz, Johannes Zschocke. (2010) Familiäre Tumorerkrankungen. Wiener klinische Wochenschrift Education 5:2, 73-94
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Elena M Stoffel, Rowena C Mercado, Wendy Kohlmann, Beth Ford, Shilpa Grover, Peggy Conrad, Amie Blanco, Kristen M Shannon, Mark Powell, Daniel C Chung, Jonathan Terdiman, Stephen B Gruber, Sapna Syngal. (2010) Prevalence and Predictors of Appropriate Colorectal Cancer Surveillance in Lynch Syndrome. The American Journal of Gastroenterology 105:8, 1851-1860
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Deborah Rabinowitz-Abrams, Debra Morgan, James Morse, Susan Miesfeldt. (2010) Building a Tool to Identify Risk for Lynch Syndrome Among Individuals Presenting for Screening Colonoscopy. Journal of Genetic Counseling 19:4, 353-359
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Kathleen Calzone, Daniel Wattendorf, Barbara K. Dunn. (2010) The Application of Genetics and Genomics to Cancer Prevention. Seminars in Oncology 37:4, 407-418
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Maria S Pino, Daniel C Chung. (2010) Application of molecular diagnostics for the detection of Lynch syndrome. Expert Review of Molecular Diagnostics 10:5, 651-665
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Lars Henrik Jensen, Lars Dysager, Jan Lindebjerg, Steen Kølvrå, Lene Byriel, Dorthe Gylling Crüger. (2010) Molecular biology from bench-to-bedside – Which colorectal cancer patients should be referred for genetic counselling and risk assessment. European Journal of Cancer 46:10, 1823-1828
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, L. I. Overbeek, R. P. Hermens, J. H. Krieken, E. M. Adang, M. Casparie, F. M. Nagengast, M. J. Ligtenberg, N. Hoogerbrugge. (2010) Electronic reminders for pathologists promote recognition of patients at risk for Lynch syndrome: cluster-randomised controlled trial. Virchows Archiv 456:6, 653-659
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Hans F.A. Vasen, Mohamed Abdirahman, Richard Brohet, Alexandra M.J. Langers, Jan H. Kleibeuker, Mariette van Kouwen, Jan Jacob Koornstra, Henk Boot, Annemieke Cats, Evelien Dekker, Silvia Sanduleanu, Jan–Werner Poley, James C.H. Hardwick, Wouter H. de Vos tot Nederveen Cappel, Andrea E. van der Meulen–de Jong, T. Gie Tan, Maarten A.J.M. Jacobs, Faig Lall A. Mohamed, Sijbrand Y. de Boer, Paul C. van de Meeberg, Marie–Louise Verhulst, Jan M. Salemans, Nico van Bentem, B. Dik Westerveld, Juda Vecht, Fokko M. Nagengast. (2010) One to 2-Year Surveillance Intervals Reduce Risk of Colorectal Cancer in Families With Lynch Syndrome. Gastroenterology 138:7, 2300-2306
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C. Richard Boland, Moshe Shike. (2010) Report From the Jerusalem Workshop on Lynch Syndrome-Hereditary Nonpolyposis Colorectal Cancer. Gastroenterology 138:7, 2197.e1-2197.e7
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Hardeep Singh, Rachel Schiesser, Gobind Anand, Peter A. Richardson, Hashem B. El–Serag. (2010) Underdiagnosis of Lynch Syndrome Involves More Than Family History Criteria. Clinical Gastroenterology and Hepatology 8:6, 523-529
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Wilfredo E. De Jesus-Monge, Carmen Gonzalez-Keelan, Ronghua Zhao, Stanley R. Hamilton, Miguel Rodriguez-Bigas, Marcia Cruz-Correa. (2010) Mismatch repair protein expression and colorectal cancer in Hispanics from Puerto Rico. Familial Cancer 9:2, 155-166
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Reetesh K. Pai, Rish K. Pai. (2010) Molecular Testing in Colorectal Carcinoma. Surgical Pathology Clinics 3:2, 429-445
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Simon A Gayther, Paul DP Pharoah. (2010) The inherited genetics of ovarian and endometrial cancer. Current Opinion in Genetics & Development 20:3, 231-238
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H. F. A. Vasen, G. Möslein, A. Alonso, S. Aretz, I. Bernstein, L. Bertario, I. Blanco, S. Bulow, J. Burn, G. Capella, C. Colas, C. Engel, I. Frayling, N. Rahner, F. J. Hes, S. Hodgson, J.-P. Mecklin, P. Møller, T. Myrhøj, F. M. Nagengast, Y. Parc, M. Ponz de Leon, L. Renkonen-Sinisalo, J. R. Sampson, A. Stormorken, S. Tejpar, H. J. W. Thomas, J. Wijnen, J. Lubinski, H. Järvinen, E. Claes, K. Heinimann, J. A. Karagiannis, A. Lindblom, I. Dove-Edwin, H. Müller. (2010) Recommendations to improve identification of hereditary and familial colorectal cancer in Europe. Familial Cancer 9:2, 109-115
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Hanifa Bouzourene, Pierre Hutter, Lorena Losi, Patricia Martin, Jean Benhattar. (2010) Selection of patients with germline MLH1 mutated Lynch syndrome by determination of MLH1 methylation and BRAF mutation. Familial Cancer 9:2, 167-172
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Kory W. Jasperson, Thuy M. Vu, Angela L. Schwab, Deborah W. Neklason, Miguel A. Rodriguez-Bigas, Randall W. Burt, Jeffrey N. Weitzel. (2010) Evaluating Lynch syndrome in very early onset colorectal cancer probands without apparent polyposis. Familial Cancer 9:2, 99-107
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Pedro Pérez Segura, Carmen Guillén Alonso, Teresa Ramón y Cajal, Raquel Serrano Blanch, Enrique Aranda. (2010) TTD consensus document on the diagnosis and management of hereditary colorectal cancer. Clinical and Translational Oncology 12:5, 356-366
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Shih-Ching Chang, Pei-Ching Lin, Shung-Haur Yang, Huann-Sheng Wang, Wen-Yih Liang, Jen-Kou Lin. (2010) Taiwan hospital-based detection of Lynch syndrome distinguishes 2 types of microsatellite instabilities in colorectal cancers. Surgery 147:5, 720-728
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N. Valeri, P. Gasparini, M. Fabbri, C. Braconi, A. Veronese, F. Lovat, B. Adair, I. Vannini, F. Fanini, A. Bottoni, S. Costinean, S. K. Sandhu, G. J. Nuovo, H. Alder, R. Gafa, F. Calore, M. Ferracin, G. Lanza, S. Volinia, M. Negrini, M. A. McIlhatton, D. Amadori, R. Fishel, C. M. Croce. (2010) Modulation of mismatch repair and genomic stability by miR-155. Proceedings of the National Academy of Sciences 107:15, 6982-6987
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