Original Article
BRCA1 Mutations in Women Attending Clinics That Evaluate the Risk of Breast Cancer
N Engl J Med 1997; 336:1409-1415May 15, 1997
- Abstract
Background
To define the incidence of BRCA1 mutations among patients seen in clinics that evaluate the risk of breast cancer, we analyzed DNA samples from women seen in this setting and constructed probability tables to provide estimates of the likelihood of finding a BRCA1 mutation in individual families.
Methods
Clinical information, family histories, and blood for DNA analysis were obtained from 263 women with breast cancer. Conformation-sensitive gel electrophoresis and DNA sequencing were used to identify BRCA1 mutations.
Results
BRCA1 mutations were identified in 16 percent of women with a family history of breast cancer. Only 7 percent of women from families with a history of breast cancer but not ovarian cancer had BRCA1 mutations. The rates were higher among women from families with a history of both breast and ovarian cancer. Among family members, an average age of less than 55 years at the diagnosis of breast cancer, the presence of ovarian cancer, the presence of breast and ovarian cancer in the same woman, and Ashkenazi Jewish ancestry were all associated with an increased risk of detecting a BRCA1 mutation. No association was found between the presence of bilateral breast cancer or the number of breast cancers in a family and the detection of a BRCA1 mutation, or between the position of the mutation in the BRCA1 gene and the presence of ovarian cancer in a family.
Conclusions
Among women with breast cancer and a family history of the disease, the percentage with BRCA1 coding-region mutations is less than the 45 percent predicted by genetic-linkage analysis. These results suggest that even in a referral clinic specializing in screening women from high-risk families, the majority of tests for BRCA1 mutations will be negative and therefore uninformative.
Media in This Article
Figure 1
Location and Tumor Specificity of the 27 BRCA1 Mutations Identified in Families with Breast Cancer.Table 1
Distribution of BRCA1 Mutations in 169 Families with Breast Cancer.Article Activity
- Article
Family history is a significant risk factor for the development of breast cancer. The relative lifetime risk of breast cancer ranges from 1.4 for a woman whose mother was given a diagnosis of breast cancer after the age of 60 to 15.0 for a woman with an inherited mutant BRCA1 gene.1-3 Breast cancer attributed to a family history of the disease has been reported to account for 6 to 19 percent of all cases of breast cancer.1,4 Recently, two genes related to breast cancer (BRCA1 and BRCA2) were identified.5-7 Genetic-linkage studies of families with multiple members with breast or ovarian cancer, or both, suggest that a mutation in BRCA1 accounts for 45 percent of hereditary cases of breast cancer and 80 to 90 percent of hereditary cases of combined breast and ovarian cancer.3,8 These studies also suggest that women in families selected for linkage analysis who carry a BRCA1 mutation have an 87 percent lifetime risk of breast cancer and a 44 percent lifetime risk of ovarian cancer.9 Linkage studies suggest that 35 percent of high-risk families may have BRCA2 mutations.10
BRCA1 is a tumor-suppressor gene postulated to be important in regulating the growth of breast epithelial cells.11 A study of 256 BRCA1 mutations showed that the mutations were spread evenly across the entire gene.12 The most commonly detected mutations are a deletion of adenine and guanine (185delAG) and an insertion of cytosine (5382insC), which have a cumulative frequency of 1.4 percent in the general Ashkenazi Jewish population.13,14 Approximately 20 percent of Ashkenazi women with breast cancer who are under the age of 40 carry the 185delAG mutation.15 In comparison, 10 percent of women with breast cancer who are under the age of 35 and who are not selected for testing on the basis of ethnic group or family history carry BRCA1 mutations.16 Mutations in noncoding regions of the gene may account for up to 20 percent of BRCA1 mutations, but they are undetectable by any commercially available test.
Most studies have focused on women who were deliberately selected because they were members of large families with multiple members with breast and ovarian cancer. But such women represent only a fraction of the spectrum of patients who seek advice at clinics that evaluate the risk of breast cancer. We currently have no estimate of the incidence of detectable BRCA1 mutations among women from families with few affected members. To address this issue, we analyzed DNA samples from 263 women with breast cancer who were seen in several breast-cancer clinics. Using these data, we calculated the probability of detecting a BRCA1 coding-region mutation on the basis of the average age at diagnosis in the family, the presence of ovarian cancer and combined breast and ovarian cancer in a family member, and ethnic group.
Methods
Patient Population
DNA samples from blood obtained from 263 unrelated women with breast cancer were analyzed for coding-region mutations in BRCA1. Of these, 169 women had been referred to breast-cancer clinics because of a familial risk factor for breast cancer. The remaining 94 women were identified in general-oncology practices because of the diagnosis of breast cancer before the age of 40; some of these women also had a family history of breast cancer. The 169 women with a family history reported 1 to 11 cases of breast cancer per family. Twenty-five families reported Ashkenazi Jewish ancestry. The women seen in the clinics had been excluded from linkage analysis because they had too few living affected relatives for the analysis to be informative for that purpose. Samples were consecutively collected between 1993 and 1995, with no specific recruitment or advertising strategy. The patients were either self-referred or referred by a physician, usually because of a concern about genetic risk factors. No patient refused to participate in the study.
All the women were informed that their DNA samples would be analyzed for BRCA1 mutations; they were offered the opportunity to receive the results and asked to sign a second consent form if they chose to learn the results. They were informed of the possibility that testing could lead to loss of insurance, loss of employment, psychological distress, and family disruption, but that it could also identify those at risk, thus warranting increased surveillance or preventive options that might result in improved health care. All patients were told that the results would be kept in locked, coded research files and would not become part of their clinical records. Not all women chose to learn the test results, but all results were included in this analysis. To clarify the family histories of the women, we requested pathology reports for each affected member of each family, with the written consent of the family member.
Mutation Analysis
We amplified the entire coding sequence and intron–exon boundaries of the BRCA1 gene from each of the 263 DNA samples using the polymerase chain reaction (PCR) with 32 primer pairs. Primer sets for exons 2 to 24, excluding exon 4, and PCR mixtures have been previously described.17 Exon 4 represents a variant exon not seen in the normal BRCA1 messenger RNA and was not screened for mutations. All PCR assays were performed at an annealing temperature of 55°C. The PCR products of exon 11 ranged from 400 to 600 bp in length and overlapped by a minimum of 50 bp to ensure the detection of all sequence variants.
For conformation-sensitive gel electrophoresis, each PCR product was denatured by heating to 98°C for five minutes, followed by incubation at 68°C for one hour to generate heteroduplexes. Then 2 μl of gel loading buffer (30 percent glycerol, 0.25 percent xylene cyanol, and bromophenol blue) was added to 4 to 8 μl of each product, and the samples were loaded on acrylamide gels. The 1-mm-thick 10 percent polyacrylamide gel contained acrylamide and 1,4-bis(acroyl)piperazine (Fluka) cross-linker in a ratio of 99:1, 10 percent ethylene glycol, and 15 percent formamide in 0.5× TRIS-taurine–EDTA buffer (1× TRIS–taurine–EDTA contains 89 mM TRIS, 28.5 mM taurine, and 0.2 mM EDTA; pH 9.0).18 The samples were subjected to electrophoresis at 400 V for 16 hours, and the gels were stained with ethidium bromide for 10 minutes. The PCR products were visualized by ultraviolet light and photographed.
DNA Sequencing
Each variant exon was reamplified from the original genomic DNA to avoid the possibility of errors. Amplified exons were purified with PCR Select II (5' 3') purification columns and manually sequenced with a PCR sequencing kit (fmol, Promega) according to the manufacturer's instructions. Each fragment was sequenced in both directions with the original PCR primers.
Statistical Analysis
We used univariate and multivariate analyses to examine possible associations between specific familial characteristics (phenotype) and the presence of a BRCA1 mutation (genotype). We examined the following variables: unilateral breast cancer, bilateral breast cancer, ovarian cancer, combined breast and ovarian cancer, the number of women at risk in a family (those over 20 years of age), the average age at diagnosis of breast cancer, the average age at diagnosis of ovarian cancer, and Ashkenazi Jewish ancestry. All variables were analyzed both as ordinal or continuous variables and as categorical variables. Analyses for the number of unilateral breast cancers were initially performed by dichotomizing this variable at several points. The lowest point at which dichotomization of the number of familial cases of breast cancers was found to be statistically significantly associated with the presence of a BRCA1 mutation was seven or more cases (vs. six or fewer); thus, this was the category entered into the multivariate analysis. The median number of bilateral breast cancers, ovarian cancers, and women with both breast and ovarian cancer, which was less than one for each of these variables (vs. one or more), was used for multivariate analysis. The average age at onset of breast cancer in each family was calculated by dividing this variable into 5-year age categories (< 35, 35 to 39, 40 to 44, 45 to 49, 50 to 54, 55 to 59, and > 59). In all cases, the lowest category of each variable was used as the reference range. In the construction of the multivariate model, all variables except the number of women at risk were treated as categorical to facilitate interpretation of the results in the clinical setting.
For univariate analyses, the Kruskal–Wallis chi-square approximation was chosen as the nonparametric measure of association; parametric analyses were performed by logistic regression. We first constructed a logistic model for unadjusted (univariate) associations between familial characteristics and BRCA1 mutations, followed by a multivariate model, using a stepwise selection procedure. Variables for which the univariate chi-square approximation achieved a P value of 0.05 or less or that changed the results of univariate analyses for other variables from significant to nonsignificant were added to this model. The variables were added sequentially, with the variable associated with the largest chi-square approximation added first. With the addition of each new variable, variables were removed whose adjusted chi-square approximation achieved a P value exceeding 0.05. This method was used to identify the best-fitting model.
Predicted probability estimates were constructed with the regression coefficient estimates from the best-fitting logistic-regression model based on the stepwise selection criteria. These predicted probabilities, as well as confidence intervals, were computed for all permutations of the predictor variables. These calculations were performed with SAS statistical analysis software. In strata with no data points, regression coefficients were used to calculate the predicted probability estimates. No confidence intervals were available for these strata.
Results
Patient Population
Of the 263 women in this study, 169 attended our clinics because of a familial risk factor for breast cancer. The remaining 94 women were seen primarily because they had been given a diagnosis of breast cancer before the age of 40 and were omitted from the analysis of familial breast cancer. There was an average of 4.0 breast cancers per family (median, 4.6; total, 660) among the 169 families with a history of breast cancer, and an average of 1.5 cases of ovarian cancer per family (median, 0.8; total, 68) in the 45 families with a history of both breast and ovarian cancer. Women with both breast and ovarian cancer were identified in 15 families. Bilateral breast cancer was reported in at least one woman in 57 families, and the average age at diagnosis of breast cancer was 48 years in all 169 families. Table 1Table 1
Distribution of BRCA1 Mutations in 169 Families with Breast Cancer. gives the frequency of these diseases, and Table 2Table 2
Frequency of BRCA1 Mutations According to the Average Age at Diagnosis of Breast Cancer. shows the average age at diagnosis of breast cancer in families.Mutation Analysis
All testing for BRCA1 germ-line mutations was performed in a single affected family member. However, since no new mutations in BRCA1 have been identified to date, the probability analyses were based on the assumption that all family members with breast or ovarian cancer carried the mutation identified in the proband.
Of the 169 women with breast cancer and a familial risk factor, 27 (16 percent) had a BRCA1 mutation (Figure 1Figure 1
Location and Tumor Specificity of the 27 BRCA1 Mutations Identified in Families with Breast Cancer.). We found no association between mutations at the 5' end of the gene and ovarian cancer, as has been previously suggested.11,19 Mutations were identified in 12 of 94 women (13 percent) in whom breast cancer was diagnosed before the age of 40.BRCA1 mutations were identified in 9 of 124 families (7 percent) with members with breast cancer without ovarian cancer, 10 of 57 families (18 percent) with members with bilateral breast cancer, 18 of 45 families (40 percent) with members with both breast and ovarian cancer, and 10 of 15 families (67 percent) with a single member with both breast and ovarian cancer. The frequency of BRCA1 mutations among Ashkenazi Jewish women was 26 percent; all mutations identified in this subgroup were either 185delAG or 5382insC. The median age at diagnosis of breast cancer was 41.0 years in families with BRCA1 mutations and 50.7 years in families without BRCA1 mutations (P < 0.001).
Associations with BRCA1 Mutations
We evaluated specific factors in family members that have been associated with BRCA1 mutations in previous studies. In both univariate and multivariate analyses, the diagnosis of breast cancer before the age of 55 (P = 0.004), ovarian cancer (P < 0.001), and breast and ovarian cancer in a single family member (P < 0.001) significantly predicted the presence of a BRCA1 mutation. In the univariate analysis Ashkenazi Jewish ancestry was not significantly associated with BRCA1 mutations (P = 0.20), but when age, ovarian cancer, breast and ovarian cancer in a single family member, and ethnic origin were all added to the same model, ethnic origin achieved statistical significance (P = 0.03). When the analysis was adjusted for the number of women in the family who were over 20 years of age (a measure of family size), there was no significant association between the presence of a BRCA1 mutation and the number of breast cancers in a family (P = 0.20). Neither bilateral breast cancer (P = 0.90) nor the average age at diagnosis of ovarian cancer (P = 0.10) significantly predicted the presence of a BRCA1 mutation.
Predicted Probabilities
We developed a model of predicted probability estimates based on the best-fit multivariate logistic regression, using the variables that were predictive of BRCA1 mutations in the univariate analysis. The results of these analyses are presented in Table 3Table 3
Probability of Detecting a BRCA1 Mutation in Families..The optimal use of this table requires a detailed family history and knowledge of all cases of breast and ovarian cancer in the family. The predicted probabilities in this table are for families as a whole. The predicted probability of a BRCA1 mutation in a woman with breast or ovarian cancer is equal to the probability for the family. For example, a woman with breast cancer who is from a family in which the average age at diagnosis of breast cancer was 40 to 44 years has a predicted probability of 7.7 percent (95 percent confidence interval, 3.6 to 15.6 percent) of having a detectable BRCA1 mutation (Table 3). For an unaffected family member, the predicted probability is determined by the relationship to the affected family member. In the case of an unaffected sibling or child of a woman with breast or ovarian cancer, the predicted probability of a BRCA1 mutation is half the probability for the family. For an unaffected grandchild, the predicted probability is 25 percent of the probability for the family.
Discussion
Data based on genetic-linkage analysis of families suggest that 45 percent of all hereditary cases of breast cancer are associated with BRCA1 mutations. However, in our series, only 16 percent of women with breast cancer and a family history of breast or ovarian cancer or both had detectable BRCA1 mutations. This proportion is far lower than that predicted on the basis of these previously published data.3 By virtue of its ability to detect known substitutions of single base pairs, we estimate that the method of identifying mutations that we used (conformation-sensitive gel electrophoresis) is 95 to 99 percent sensitive. For this reason, the most likely explanation for the difference between our results and those previously reported is that the earlier studies selected large families with several cases of ovarian cancer. These families were actively sought for linkage studies because the presence of ovarian cancer significantly increases the likelihood of finding a BRCA1 mutation in a family member.20-22
The population we studied is more representative of the kinds of patients seen in a referral clinic for the evaluation of the risk of breast cancer. Many families in our population were too small for us to predict the presence of a BRCA1 mutation from a pattern of inheritance in the family, and in most families the only relevant neoplasm was breast cancer. The relatively few cases of ovarian cancer in our study made the confidence intervals for some strata wide. Nonetheless, we believe that this model provides physicians who counsel women facing the decision whether to undergo testing with a template estimating the likelihood that a BRCA1 test will be positive. Since our population consisted almost entirely of white women, the data may not be useful for Asian, black, Native American, or Hispanic women.
As in all previous studies, a young age at diagnosis of breast cancer was associated with a detectable BRCA1 mutation. Our findings also support the well-established link between ovarian cancer and BRCA1 mutations. Previous work identified an association between a young age at diagnosis of ovarian cancer in family members and BRCA1 mutations, but we did not find such a link.
In contrast to previous work, our study suggests that the presence of breast cancer alone (without ovarian cancer in the family) is infrequently associated with mutations in the coding region of BRCA1; only 7 percent of women from such families had detectable mutations. Thus, there remain a large number of families in which breast cancer may be associated with mutations in noncoding regions of BRCA1 or other susceptibility genes. Mutations in the BRCA2 gene are thought to account for 35 percent of hereditary cases of breast cancer,6 but even if we excluded 35 percent of the families in this study with a history of breast cancer alone the majority of families would still not have detectable mutations in either BRCA1 or BRCA2. Given that the proportion of families with BRCA1 mutations was lower than expected (16 percent, as opposed to 45 percent), it is likely that the percentage of families with BRCA2 mutations, also derived from linkage studies of large families, will similarly be lower than the currently estimated 35 percent. Clinical manifestations of other inherited breast-cancer syndromes, such as the Li–Fraumeni syndrome (p53 mutations),23 the Muir–Torre syndrome (mutations in MLH1 and MSH2),24-26 and Cowden's disease,27 were not observed in this series. Thus, we estimate that BRCA1 and BRCA2 mutations together may account for only 40 to 50 percent of the hereditary cases of breast cancers, not 90 percent, as has been suggested.10
Surprisingly, the number of breast cancers in a family, when considered alone, was not predictive of the presence of a BRCA1 mutation. Since the number of breast cancers in a family may simply be a marker of family size and not a useful single determinant for predicting the presence of a BRCA1 mutation, the decision not to test women because they have a small number of relatives with breast cancer may miss a substantial number of carriers. Bilateral breast cancer has also been considered a marker of familial predisposition to breast cancer, but in our series the incidence of BRCA1 mutations in families with and those without members with bilateral breast cancer was virtually identical (18 percent and 15 percent, respectively). Neither parametric nor nonparametric methods of statistical analysis revealed an association between bilateral breast cancer and the presence of detectable BRCA1 mutations.
Our predicted probability tables provide statistical estimates of the presence of a BRCA1 mutation in most families with a history of breast cancer. However, because Ashkenazi Jewish ancestry is an independent predictor of BRCA1 mutations and mutation frequencies among Ashkenazi Jews and non-Ashkenazi whites differ, we created separate categories for these groups.
This model was designed to provide likelihood estimates for detecting a BRCA1 mutation in women with a family or personal history of breast cancer, ovarian cancer, or both. However, our analysis was based on relatively small numbers of subjects and mutations and will undoubtedly require modification as more patients and families are analyzed. Until further information can be obtained about the outcome of screening and preventive interventions for women with BRCA1 mutations, we believe that clinicians should disclose the uncertainties associated with the testing of and approach to carriers of BRCA1 mutations and leave the final decision regarding testing to the woman. It is to be expected that a majority of those tested in most settings will not have an identifiable BRCA1 mutation. These women need to know that in the absence of a known BRCA1 mutation in the family, negative results are not truly negative, but uninformative in most cases, and they must be cautioned against having a false sense of security.
Supported by grants from the National Cancer Institute and the Breast Cancer Research Foundation (to Dr. Weber).
Source Information
From the Departments of Medicine (F.J.C., M.L.D., M.A.B., K.C., J.S., L.C., B.L.W.), Genetics (A.G., B.L.W.), and Biostatistics and Epidemiology (M.A.B., T.R.), University of Pennsylvania, Philadelphia.
Address reprint requests to Dr. Weber at the University of Pennsylvania, 1009 Stellar Chance Laboratories, 422 Curie Blvd., Philadelphia, PA 19104.
Other authors were Lisa Jablon, M.D. (Albert Einstein Medical Center, Philadelphia), Melody A. Cobleigh, M.D. (Rush–Presbyterian–St. Luke's Medical Center, Chicago), Kent Hoskins, M.D. (Rockford Memorial Hospital, Rockford, Ill.), and Judy E. Garber, M.D. (Dana–Farber Cancer Institute, Boston).
- References
References
1
Colditz GA ,Willet WC ,Hunter DJ , et al. Family history, age, and risk of breast cancer: prospective data from the Nurses' Health Study. JAMA 1993;270:338-343[Erratum, JAMA 1993;270:1548.]
CrossRef | Web of Science | Medline2
Gail MH ,Brinton LA ,Byar DP , et al. Projecting individualized probabilities of developing breast cancer for white females who are being examined annually. J Natl Cancer Inst 1989;81:1879-1886
CrossRef | Web of Science | Medline3
Easton DF ,Bishop DT ,Ford D ,Crockford GP . Genetic linkage analysis in familial breast and ovarian cancer: results from 214 families. Am J Hum Genet 1993;52:678-701
Web of Science | Medline4
Slattery ML ,Kerber RA . A comprehensive evaluation of family history and breast cancer risk: the Utah Population Database. JAMA 1993;270:1563-1568
CrossRef | Web of Science | Medline5
Miki Y ,Swensen J ,Shattuck-Eidens D , et al. A strong candidate for the breast and ovarian cancer susceptibility gene BRCA1. Science 1994;266:66-71
CrossRef | Web of Science | Medline6
Wooster R ,Bignell G ,Lancaster J , et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995;378:789-792
CrossRef | Web of Science | Medline7
Tavtigian SV ,Simard J ,Rommens J , et al. The complete BRCA2 gene and mutations in chromosome 13q-linked kindreds. Nat Genet 1996;12:333-337
CrossRef | Web of Science | Medline8
Easton DF, Ford D, Bishop DT, Breast Cancer Linkage Consortium
Web of Science | Medline9
Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE, Breast Cancer Linkage Consortium
CrossRef | Web of Science | Medline10
Wooster R ,Neuhausen SL ,Mangion J , et al. Localization of a breast cancer susceptibility gene, BRCA2, to chromosome 13q12-13. Science 1994;265:2088-2090
CrossRef | Web of Science | Medline11
Holt JT ,Thompson ME ,Szabo C , et al. Growth retardation and tumour inhibition by BRCA1. Nat Genet 1996;12:298-302
CrossRef | Web of Science | Medline12
Couch FJ ,Weber BL , Breast Cancer Information Core. Mutations and polymorphisms in the familial early-onset breast cancer (BRCA1) gene. Hum Mutat 1996;8:8-18
CrossRef | Web of Science | Medline13
Streuwing JP ,Abeliovich D ,Peretz T , et al. The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals. Nat Genet 1995;11:198-200
CrossRef | Web of Science | Medline14
Roa BB ,Boyd AA ,Volcik K ,Richards CS . Ashkenazi Jewish population frequencies for common mutations in BRCA1 and BRCA2. Nat Genet 1996;14:185-187
CrossRef | Web of Science | Medline15
FitzGerald MG ,MacDonald DJ ,Krainer M , et al. Germ-line BRCA1 mutations in Jewish and non-Jewish women with early-onset breast cancer. N Engl J Med 1996;334:143-149
Full Text | Web of Science | Medline16
Langston AA ,Malone KE ,Thompson JD ,Daling JR ,Ostrander EA . BRCA1 mutations in a population-based sample of young women with breast cancer. N Engl J Med 1996;334:137-142
Full Text | Web of Science | Medline17
Castilla LH ,Couch FJ ,Erdos MR , et al. Mutations in the BRCA1 gene in families with early-onset breast and ovarian cancer. Nat Genet 1994;8:387-391
CrossRef | Web of Science | Medline18
Ganguly A ,Rock MJ ,Prockop DJ . Conformation-sensitive gel electrophoresis for rapid detection of single-base differences in double-stranded PCR products and DNA fragments: evidence for solvent-induced bends in DNA heteroduplexes. Proc Natl Acad Sci U S A 1993;90:10325-10329
CrossRef | Web of Science | Medline19
Gayther SA ,Warren W ,Mazoyer S , et al. Germline mutations of the BRCA1 gene in breast and ovarian cancer families provide evidence for a genotype-phenotype correlation. Nat Genet 1995;11:428-433
CrossRef | Web of Science | Medline20
Shattuck-Eidens D ,McClure M ,Simard J , et al. A collaborative survey of 80 mutations in the BRCA1 breast and ovarian cancer susceptibility gene: implications for presymptomatic testing and screening. JAMA 1995;273:535-541
CrossRef | Web of Science | Medline21
Tonin P ,Weber B ,Offit K , et al. Frequency of recurrent BRCA1 and BRCA2 mutations in Ashkenazi Jewish breast cancer families. Nat Med 1996;2:1179-1183
CrossRef | Web of Science | Medline22
Berry DA ,Parmigiani G ,Sanchez J , et al. Probability of carrying a mutation of breast-ovarian cancer gene BRCA1 based on family history. J Natl Cancer Inst 1997;89:227-238
CrossRef | Web of Science | Medline23
Li FP ,Fraumeni JF Jr ,Mulvihill JJ , et al. A cancer family syndrome in 24 kindreds. Cancer Res 1988;48:5358-5362
Web of Science | Medline24
Muir EG ,Yates-Bell AJ ,Barlow KA . Multiple primary carcinomata of the colon, duodenum, and larynx associated with kerato-acanthomata of the face. Br J Surg 1967;54:191-195
CrossRef | Web of Science | Medline25
Kolodner RD ,Hall NR ,Lipford J , et al. Structure of the human MSH2 locus and analysis of two Muir-Torre kindreds for msh2 mutations. Genomics 1994;24:516-526
CrossRef | Web of Science | Medline26
Bapat B ,Xia L ,Madlensky L , et al. The genetic basis of Muir-Torre syndrome includes the hMLH1 locus. Am J Hum Genet 1996;59:736-739
Web of Science | Medline27
Brownstein MH ,Wolf M ,Bikowski JB . Cowden's disease: a cutaneous marker of breast cancer. Cancer 1978;41:2393-2398
CrossRef | Web of Science | Medline
- Citing Articles (230)
Citing Articles
1
Ava Kwong, Connie H. N. Wong, Dacita T. K. Suen, Michael Co, Allison W. Kurian, Dee W. West, James M. Ford. (2012) Accuracy of BRCA1/2 Mutation Prediction Models for Different Ethnicities and Genders: Experience in a Southern Chinese Cohort. World Journal of Surgery
CrossRef2
Bronson D. Riley, Julie O. Culver, Cécile Skrzynia, Leigha A. Senter, June A. Peters, Josephine W. Costalas, Faith Callif-Daley, Sherry C. Grumet, Katherine S. Hunt, Rebecca S. Nagy, Wendy C. McKinnon, Nancie M. Petrucelli, Robin L. Bennett, Angela M. Trepanier. (2011) Essential Elements of Genetic Cancer Risk Assessment, Counseling, and Testing: Updated Recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling
CrossRef3
V. V. Keshelava, O. S. Khodorovich, G. O. Shaykhaev, N. L. Chazova, A. M. Bereschanskaya. (2011) Involvement of Transforming Growth Factor β and its Type 1 Receptor in the Development of Breast Cancer. Bulletin of Experimental Biology and Medicine
CrossRef4
Maria C. Katapodi, Laurel Northouse, Penny Pierce, Kara J. Milliron, Guipeng Liu, Sofia D. Merajver. (2011) Differences Between Women Who Pursued Genetic Testing for Hereditary Breast and Ovarian Cancer and Their At-Risk Relatives Who Did Not. Oncology Nursing Forum 38:5, 572-581
CrossRef5
Kristen M. Shannon, Linda H. Rodgers, Gayun Chan-Smutko, Devanshi Patel, Michele Gabree, Paula D. Ryan. (2011) Which individuals undergoing BRACAnalysis need BART testing?. Cancer Genetics 204:8, 416-422
CrossRef6
Marianne Boenink. (2011) Unambiguous test results or individual independence? The role of clients and families in predictive BRCA-testing in the Netherlands compared to the USA. Social Science & Medicine 72:11, 1793-1801
CrossRef7
Michelle W. Wong, Cecilia Nordfors, David Mossman, Gordana Pecenpetelovska, Kelly A. Avery-Kiejda, Bente Talseth-Palmer, Nikola A. Bowden, Rodney J. Scott. (2011) BRIP1, PALB2, and RAD51C mutation analysis reveals their relative importance as genetic susceptibility factors for breast cancer. Breast Cancer Research and Treatment 127:3, 853-859
CrossRef8
Dokyung Kim, Woohee Jung, Ja Seung Koo. (2011) The Expression of ERCC1, RRM1, and BRCA1 in Breast Cancer According to the Immunohistochemical Phenotypes. Journal of Korean Medical Science 26:3, 352
CrossRef9
K.M. Sussner, T.A. Edwards, H.S. Thompson, L. Jandorf, N.O. Kwate, A. Forman, K. Brown, N. Kapil-Pair, D.H. Bovbjerg, M.D. Schwartz, H.B. Valdimarsdottir. (2011) Ethnic, Racial and Cultural Identity and Perceived Benefits and Barriers Related to Genetic Testing for Breast Cancer among At-Risk Women of African Descent in New York City. Public Health Genomics 14:6, 356-370
CrossRef10
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
CrossRef11
Ana Cristina Vargas, Leonard Da Silva, Sunil R. Lakhani. (2010) The contribution of breast cancer pathology to statistical models to predict mutation risk in BRCA carriers. Familial Cancer 9:4, 545-553
CrossRef12
Noralane M. Lindor, Kiley J. Johnson, Hayden Harvey, V. Shane Pankratz, Susan M. Domchek, Katherine Hunt, Marcia Wilson, M. Cathie Smith, Fergus Couch. (2010) Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of PENN II model to previous study. Familial Cancer 9:4, 495-502
CrossRef13
Zsofia K. Stadler, Emmanuel Saloustros, Nichole A. L. Hansen, Alice E. Schluger, Noah D. Kauff, Kenneth Offit, Mark E. Robson. (2010) Absence of genomic BRCA1 and BRCA2 rearrangements in Ashkenazi breast and ovarian cancer families. Breast Cancer Research and Treatment 123:2, 581-585
CrossRef14
M. H. Abdel-Rahman, R. Pilarski, S. Ezzat, J. Sexton, F. H. Davidorf. (2010) Cancer family history characterization in an unselected cohort of 121 patients with uveal melanoma. Familial Cancer 9:3, 431-438
CrossRef15
Courtney Doughty Rice, Jennifer Gamm Ruschman, Lisa J. Martin, Jennifer B. Manders, Erin Miller. (2010) Retrospective comparison of patient outcomes after in-person and telephone results disclosure counseling for BRCA1/2 genetic testing. Familial Cancer 9:2, 203-212
CrossRef16
J. J. T. Harssel, C. E. P. Roozendaal, Y. Detisch, R. D. Brandão, A. D. C. Paulussen, M. Zeegers, M. J. Blok, E. B. Gómez García. (2010) Efficiency of BRCAPRO and Myriad II mutation probability thresholds versus cancer history criteria alone for BRCA1/2 mutation detection. Familial Cancer 9:2, 193-201
CrossRef17
Elena Beristain, Berta Ibáñez, Itziar Vergara, Cristina Martínez-Bouzas, Isabel Guerra, Maria Isabel Tejada. (2010) Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2. Journal of Community Genetics 1:2, 91-99
CrossRef18
E. Amir, O. C. Freedman, B. Seruga, D. G. Evans. (2010) Assessing Women at High Risk of Breast Cancer: A Review of Risk Assessment Models. JNCI Journal of the National Cancer Institute 102:10, 680-691
CrossRef19
Larissa A. Meyer, Meaghan E. Anderson, Robin A. Lacour, Anuj Suri, Molly S. Daniels, Diana L. Urbauer, Graciela M. Nogueras-Gonzalez, Kathleen M. Schmeler, David M. Gershenson, Karen H. Lu. (2010) Evaluating Women With Ovarian Cancer for BRCA1 and BRCA2 Mutations. Obstetrics & Gynecology 115:5, 945-952
CrossRef20
Takashi Yoshida, Hiroyuki Takei, Masafumi Kurosumi, Jun Ninomiya, Yuko Ishikawa, Yuji Hayashi, Katsunori Tozuka, Hanako Oba, Kaori Kawanowa, Kenichi Inoue, Toshio Tabei. (2010) True Recurrences and New Primary Tumors Have Different Clinical Features in Invasive Breast Cancer Patients with Ipsilateral Breast Tumor Relapse After Breast-Conserving Treatment. The Breast Journal 16:2, 127-133
CrossRef21
Wendy K. Chung. 2010. Gender Differences in Hereditary Cancer SyndromesRisks, Management, and Testing for Inherited Predisposition to Cancer. , 481-494.
CrossRef22
Cecelia A. Bellcross, Amy A. Lemke, Laura S. Pape, Angela L. Tess, Lorraine T. Meisner. (2009) Evaluation of a breast/ovarian cancer genetics referral screening tool in a mammography population. Genetics in Medicine 11:11, 783-789
CrossRef23
Srila Samphao, Amanda J. Wheeler, Elizabeth Rafferty, James S. Michaelson, Michelle C. Specht, Michele A. Gadd, Kevin S. Hughes, Barbara L. Smith. (2009) Diagnosis of breast cancer in women age 40 and younger: delays in diagnosis result from underuse of genetic testing and breast imaging. The American Journal of Surgery 198:4, 538-543
CrossRef24
Katarina M. Sussner, Hayley S. Thompson, Lina Jandorf, Tiffany A. Edwards, Andrea Forman, Karen Brown, Nidhi Kapil-Pair, Dana H. Bovbjerg, Marc D. Schwartz, Heiddis B. Valdimarsdottir. (2009) The influence of acculturation and breast cancer-specific distress on perceived barriers to genetic testing for breast cancer among women of African descent. Psycho-Oncology 18:9, 945-955
CrossRef25
Nan-Yan Rao, Zhen Hu, Jin-Ming Yu, Wen-Feng Li, Bin Zhang, Feng-Xi Su, Jiong Wu, Zhen-Zhou Shen, Wei Huang, Zhi-Ming Shao. (2009) Evaluating the performance of models for predicting the BRCA germline mutations in Han Chinese familial breast cancer patients. Breast Cancer Research and Treatment 116:3, 563-570
CrossRef26
Thomas v. O. Hansen, Lars Jønson, Anders Albrechtsen, Mette K. Andersen, Bent Ejlertsen, Finn C. Nielsen. (2009) Large BRCA1 and BRCA2 genomic rearrangements in Danish high risk breast-ovarian cancer families. Breast Cancer Research and Treatment 115:2, 315-323
CrossRef27
Nan-Yan Rao, Zhen Hu, Wen-Feng Li, Juan Huang, Zhong-Liang Ma, Bin Zhang, Feng-Xi Su, Jie Zhou, Gen-Hong Di, Kun-Wei Shen, Jiong Wu, Jin-Song Lu, Jian-Min Luo, Wen-Tao Yuan, Zhen-Zhou Shen, Wei Huang, Zhi-Ming Shao. (2009) Models for predicting BRCA1 and BRCA2 mutations in Han Chinese familial breast and/or ovarian cancer patients. Breast Cancer Research and Treatment 113:3, 467-477
CrossRef28
Antonio Russo, Valentina Calò, Loredana Bruno, Sergio Rizzo, Viviana Bazan, Gaetana Di Fede. (2009) Hereditary ovarian cancer. Critical Reviews in Oncology/Hematology 69:1, 28-44
CrossRef29
Phuong L. Mai, Veronica I. Lagos, Melanie R. Palomares, Jeffrey N. Weitzel. (2008) Contralateral Risk-Reducing Mastectomy in Young Breast Cancer Patients with and without Genetic Cancer Risk Assessment. Annals of Surgical Oncology 15:12, 3415-3421
CrossRef30
Yinghua Chen, Olufunmilayo I Olopade. (2008) MYC in breast tumor progression. Expert Review of Anticancer Therapy 8:10, 1689-1698
CrossRef31
Dawn C. Allain. (2008) Genetic Counseling and Testing for Common Hereditary Breast Cancer Syndromes. The Journal of Molecular Diagnostics 10:5, 383-395
CrossRef32
Tuya Pal, Susan Vadaparampil, Judy Betts, Cheryl Miree, Song Li, Steven A. Narod. (2008) BRCA1/2 in High-Risk African American Women with Breast Cancer: Providing Genetic Testing through Various Recruitment Strategies. Genetic Testing 12:3, 401-407
CrossRef33
Edwin S Iversen, Giovanni Parmigiani, Sining Chen. (2008) Multiple Model Evaluation Absent the Gold Standard Through Model Combination. Journal of the American Statistical Association 103:483, 897-909
CrossRef34
Michael J. Hall, James J. Dignam, Olufunmilayo I. Olopade. (2008) Family History of Pancreatic Cancer in a High-Risk Cancer Clinic: Implications for Risk Assessment. Journal of Genetic Counseling 17:4, 365-372
CrossRef35
Tiffany A. Edwards, Hayley S. Thompson, Naa Oyo A. Kwate, Karen Brown, Margaret M. McGovern, Andrea Forman, Nidhi Kapil-Pair, Lina Jandorf, Dana H. Bovbjerg, Heiddis B. Valdimarsdottir. (2008) Association between temporal orientation and attitudes about BRCA1/2 testing among women of African descent with family histories of breast cancer. Patient Education and Counseling 72:2, 276-282
CrossRef36
Yang Wang, Jing Yu, Qimin Zhan. (2008) BRCA1 regulates caveolin-1 expression and inhibits cell invasiveness. Biochemical and Biophysical Research Communications 370:2, 201-206
CrossRef37
DGR Evans, K Young, M Bulman, A Shenton, A Wallace, F Lalloo. (2008) Probability of BRCA1/2 mutation varies with ovarian histology: results from screening 442 ovarian cancer families. Clinical Genetics 73:4, 338-345
CrossRef38
Chanita Hughes Halbert, Deja Love, Tynisha Mayes, Aliya Collier, Benita Weathers, Lisa Kessler, Jill Stopfer, Deborah Bowen, Susan Domchek. (2008) Retention of African American women in cancer genetics research. American Journal of Medical Genetics Part A 146A:2, 166-173
CrossRef39
Ku Sang Kim, Sung-Won Kim, Min Hyuk Lee, Sei Hyun Ahn, Sue Kyung Park, . (2008) Practice Patterns of Surgeons for the Management of Hereditary Breast Cancer in Korea. Journal of Breast Cancer 11:2, 95
CrossRef40
Francesc Balaguer, Judith Balmaña, Sergi Castellví–Bel, Ewout W. Steyerberg, Montserrat Andreu, Xavier Llor, Rodrigo Jover, Sapna Syngal, Antoni Castells. (2008) Validation and Extension of the PREMM1,2 Model in a Population-Based Cohort of Colorectal Cancer Patients. Gastroenterology 134:1, 39-46
CrossRef41
Lisa Kessler, Susan Domchek, Jill Stopfer, Chanita Hughes Halbert. (2008) BRCA1 and BRCA2 Risk Perceptions among African American Women at Increased Risk for Hereditary Breast-Ovarian Cancer. Community Genetics 11:4, 193-200
CrossRef42
Sharon L. Bober, Lizbeth A. Hoke, Rosemary B. Duda, Nadine M. Tung. (2007) Recommendation Recall and Satisfaction After Attending Breast/Ovarian Cancer Risk Counseling. Journal of Genetic Counseling 16:6, 755-762
CrossRef43
Noralane M. Lindor, Rachel A. Lindor, Carmel Apicella, James G. Dowty, Amanda Ashley, Katherine Hunt, Betty A. Mincey, Marcia Wilson, M. Cathie Smith, John L. Hopper. (2007) Predicting BRCA1 and BRCA2 gene mutation carriers: comparison of LAMBDA, BRCAPRO, Myriad II, and modified Couch models. Familial Cancer 6:4, 473-482
CrossRef44
Angela R. Bradbury, Olufunmilayo I. Olopade. (2007) Genetic susceptibility to breast cancer. Reviews in Endocrine and Metabolic Disorders 8:3, 255-267
CrossRef45
Y-M Jeng, S Cai-Ng, A Li, S Furuta, H Chew, P-L Chen, E-Y-H Lee, W-H Lee. (2007) Brca1 heterozygous mice have shortened life span and are prone to ovarian tumorigenesis with haploinsufficiency upon ionizing irradiation. Oncogene 26:42, 6160-6166
CrossRef46
Bhramar Mukherjee, Li Zhang, Malay Ghosh, Samiran Sinha. (2007) Semiparametric Bayesian Analysis of Case-Control Data under Conditional Gene-Environment Independence. Biometrics 63:3, 834-844
CrossRef47
Kristi D. Graves, Beth N. Peshkin, Chanita H. Halbert, Tiffani A. DeMarco, Claudine Isaacs, Marc D. Schwartz. (2007) Predictors and outcomes of contralateral prophylactic mastectomy among breast cancer survivors. Breast Cancer Research and Treatment 104:3, 321-329
CrossRef48
Catharine Wang, Richard Gonzalez, Nancy K. Janz, Kara J. Milliron, Sofia D. Merajver. (2007) The role of cognitive appraisal and worry in BRCA1/2 testing decisions among a clinic population. Psychology & Health 22:6, 719-736
CrossRef49
C Apicella, JG Dowty, GS Dite, MA Jenkins, RT Senie, MB Daly, IL Andrulis, EM John, SS Buys, FP Li, G Glendon, W Chung, H Ozcelik, A Miron, K Kotar, MC Southey, WD Foulkes, JL Hopper. (2007) Validation study of the lambda model for predicting the BRCA1 or BRCA2 mutation carrier status of North American Ashkenazi Jewish women. Clinical Genetics 72:2, 87-97
CrossRef50
Janice L. Berliner, Angela Musial Fay. (2007) Risk Assessment and Genetic Counseling for Hereditary Breast and Ovarian Cancer: Recommendations of the National Society of Genetic Counselors. Journal of Genetic Counseling 16:3, 241-260
CrossRef51
Peter A. Fasching, Mayada R. Bani, Carolin Nestle-Kr??mling, Tim O. Goecke, Dieter Niederacher, Matthias W. Beckmann, Michael P. Lux. (2007) Evaluation of mathematical models for breast cancer risk assessment in routine clinical use. European Journal of Cancer Prevention 16:3, 216-224
CrossRef52
M.W. Beckmann, M.R. Bani, P.A. Fasching, R. Strick, M.P. Lux. (2007) Risk and risk assessment for breast cancer: Molecular and clinical aspects. Maturitas 57:1, 56-60
CrossRef53
Ellent T. Matloff, Kristen M. Shannon, Anne Moyer, Nananda F. Col. (2007) Should menopausal women at increased risk for breast cancer use tamoxifen, raloxifene, or hormone therapy?: A framework for personalized risk assessment and counseling. Journal of Cancer Education 22:1, 10-14
CrossRef54
Dianne D. Chapman. (2007) Cancer Genetics. Seminars in Oncology Nursing 23:1, 2-9
CrossRef55
Jennifer Scalia Wilbur, Adam A. Rojan, Robert D. Legare. 2007. The Genetics of Breast and Gynecologic Cancers. , 43-71.
CrossRef56
Eun-Kyu Kim, Ku Sang Kim, Sue Kyung Park, Sei-Hyun Ahn, Min Hyuk Lee, Sung-Won Kim, . (2007) The Korean Hereditary Breast Cancer (KOHBRA) Study: Protocol Review. Journal of Breast Cancer 10:4, 241
CrossRef57
Louise J. Bordeleau, Joan E. Lipa, Peter C. Neligan. (2007) Management of the BRCA Mutation Carrier or High-Risk Patient. Clinics in Plastic Surgery 34:1, 15-27
CrossRef58
Suzanne C. O'Neill, Tiffani DeMarco, Beth N. Peshkin, Sarah Rogers, Jessica Rispoli, Karen Brown, Heiddis Valdimarsdottir, Marc D. Schwartz. (2006) Tolerance for uncertainty and perceived risk among women receiving uninformativeBRCA1/2 test results. American Journal of Medical Genetics Part C: Seminars in Medical Genetics 142C:4, 251-259
CrossRef59
Nicoletta Colombo, Toon Van Gorp, Gabriella Parma, Frederic Amant, Gemma Gatta, Cristiana Sessa, Ignace Vergote. (2006) Ovarian cancer. Critical Reviews in Oncology/Hematology 60:2, 159-179
CrossRef60
Gelareh Farshid, Rosemary L. Balleine, Margaret Cummings, Paul Waring. (2006) Morphology of Breast Cancer as a Means of Triage of Patients for BRCA1 Genetic Testing. The American Journal of Surgical Pathology 30:11, 1357-1366
CrossRef61
Kent F. Hoskins, Alice Zwaagstra, Michael Ranz. (2006) Validation of a tool for identifying women at high risk for hereditary breast cancer in population-based screening. Cancer 107:8, 1769-1776
CrossRef62
H H Kang, R Williams, J Leary, C Ringland, J Kirk, R Ward. (2006) Evaluation of models to predict BRCA germline mutations. British Journal of Cancer 95:7, 914-920
CrossRef63
Sarah Charles, Lisa Kessler, Jill E. Stopfer, Susan Domchek, Chanita Hughes Halbert. (2006) Satisfaction with genetic counseling for BRCA1 and BRCA2 mutations among African American women. Patient Education and Counseling 63:1-2, 196-204
CrossRef64
KK Oros, P Ghadirian, CM Maugard, C Perret, Y Paredes, A-M Mes-Masson, WD Foulkes, D Provencher, PN Tonin. (2006) Application of BRCA1 and BRCA2 mutation carrier prediction models in breast and/or ovarian cancer families of French Canadian descent. Clinical Genetics 70:4, 320-329
CrossRef65
Ellen T. Matloff, Anne Moyer, Kristen M. Shannon, Kristin B. Niendorf, Nananda F. Col. (2006) Healthy Women with a Family History of Breast Cancer: Impact of a Tailored Genetic Counseling Intervention on Risk Perception, Knowledge, and Menopausal Therapy Decision Making. Journal of Women's Health 15:7, 843-856
CrossRef66
Chanita Hughes Halbert, Lisa Kessler, Jill E. Stopfer, Susan Domchek, E Paul Wileyto. (2006) Low rates of acceptance of BRCA1 and BRCA2 test results among African American women at increased risk for hereditary breast-ovarian cancer. Genetics in Medicine 8:9, 576-582
CrossRef67
Saori Furuta, Ju-Ming Wang, Shuanzeng Wei, Yung-Ming Jeng, Xianzhi Jiang, Bingnan Gu, Phang-Lang Chen, Eva Y.-H.P. Lee, Wen-Hwa Lee. (2006) Removal of BRCA1/CtIP/ZBRK1 repressor complex on ANG1 promoter leads to accelerated mammary tumor growth contributed by prominent vasculature. Cancer Cell 10:1, 13-24
CrossRef68
Tiffani A. DeMarco, Christopher A. Loffredo, Marilyn L. Sampilo, Kenneth P. Tercyak. (2006) On Using a Cancer Center Cancer Registry to Identify Newly Affected Women Eligible for Hereditary Breast Cancer Syndrome Testing: Practical Considerations. Journal of Genetic Counseling 15:2, 129-136
CrossRef69
Antonis C Antoniou, Douglas F Easton. (2006) Risk prediction models for familial breast cancer. Future Oncology 2:2, 257-274
CrossRef70
Elissa M. Ozanne, Jennifer R. Klemp, Laura J. Esserman. (2006) Breast Cancer Risk Assessment and Prevention: A Framework for Shared Decision-Making Consultations. The Breast Journal 12:2, 103-113
CrossRef71
Glenn E. Palomaki, Monica R. McClain, Klaus Steinort, Randa Sifri, Leigh LoPresti, James E. Haddow. (2006) Screen-positive rates and agreement among six family history screening protocols for breast/ovarian cancer in a population-based cohort of 21- to 55-year-old women. Genetics in Medicine 8:3, 161-168
CrossRef72
A-M Gerdes, DG Cruger, M Thomassen, TA Kruse. (2006) Evaluation of two different models to predict BRCA1 and BRCA2 mutations in a cohort of Danish hereditary breast and/or ovarian cancer families. Clinical Genetics 69:2, 171-178
CrossRef73
C. Celis-Chacón, C.A. Gordillo-Galindo. (2006) Perfil psicosocial de la mujer mastectomizada por cáncer de mama. Atención Primaria 37:3, 173-175
CrossRef74
Mirjana Brankovic-Magic, Jelena Dobricic, Radmila Jankovic, Irene Konstantopoulou, Drakoulis Yannoukakos, Sinisa Radulovic. (2006) Identifying and testing for hereditary susceptibility to breast/ovarian cancer in Serbia: Where are we now?. Archive of oncology 14:3-4, 131-135
CrossRef75
Karen L. Brown, Robin Hutchison, Randi E. Zinberg, Margaret M. McGovern. (2005) Referral and Experience with Genetic Testing Among Women with Early Onset Breast Cancer. Genetic Testing 9:4, 301-305
CrossRef76
Carlo Capalbo, Enrico Ricevuto, Annarita Vestri, Tina Sidoni, Amelia Buffone, Enrico Cortesi, Paolo Marchetti, Giovanni Scambia, Silverio Tomao, Christian Rinaldi, Massimo Zani, Sergio Ferraro, Luigi Frati, Isabella Screpanti, Alberto Gulino, Giuseppe Giannini. (2005) Improving the accuracy of BRCA1/2 mutation prediction: validation of the novel country-customized IC software. European Journal of Human Genetics
CrossRef77
Sharon R. Sand, David S. DeRam, Deborah J. MacDonald, Kathleen R. Blazer, Jeffrey N. Weitzel. (2005) Linkage of a Pedigree Drawing Program and Database to a Program for Determining BRCA Mutation Carrier Probability. Familial Cancer 4:4, 313-316
CrossRef78
Swati Biswas, Donald A. Berry. (2005) Determining joint carrier probabilities of cancer-causing genes using Markov chain Monte Carlo methods. Genetic Epidemiology 29:2, 141-154
CrossRef79
Charis Eng. (2005) High Frequency of Large Gene Deletions and Rearrangements in Lynch Syndrome–Back to the Future?. Gastroenterology 129:3, 1124-1126
CrossRef80
CH Halbert, L Kessler, A Collier, E Paul Wileyto, K Brewster, B Weathers. (2005) Psychological functioning in African American women at an increased risk of hereditary breast and ovarian cancer. Clinical Genetics 68:3, 222-227
CrossRef81
Valerie Bonadona, Olga M. Sinilnikova, Sandrine Chopin, Antonis C. Antoniou, Hervé Mignotte, Patrice Mathevet, Alain Brémond, Alain Martin, Jean-Yves Bobin, Pascale Romestaing, Daniel Raudrant, René-Charles Rudigoz, Mélanie Léoné, Franck Chauvin, Douglas F. Easton, Gilbert M Lenoir, Christine Lasset. (2005) Contribution ofBRCA1 andBRCA2 germ-line mutations to the incidence of breast cancer in young women: Results from a prospective population-based study in France. Genes, Chromosomes and Cancer 43:4, 404-413
CrossRef82
Efrat Dagan, Sharon Gil. (2005) BRCA1/2 Mutation Carriers. Journal of Psychosocial Oncology 22:3, 93-106
CrossRef83
L SIM, J HENDRIKS, P BULT, S FOOKCHONG. (2005) US correlation for MRI-detected breast lesions in women with familial risk of breast cancer. Clinical Radiology 60:7, 801-806
CrossRef84
A. N. Freedman, D. Seminara, M. H. Gail, P. Hartge, G. A. Colditz, R. Ballard-Barbash, R. M. Pfeiffer. (2005) Cancer Risk Prediction Models: A Workshop on Development, Evaluation, and Application. JNCI Journal of the National Cancer Institute 97:10, 715-723
CrossRef85
Constance D. Lehman, Jeffrey D. Blume, Paul Weatherall, David Thickman, Nola Hylton, Ellen Warner, Etta Pisano, Stuart J. Schnitt, Constantine Gatsonis, Mitchell Schnall, . (2005) Screening women at high risk for breast cancer with mammography and magnetic resonance imaging. Cancer 103:9, 1898-1905
CrossRef86
Catharine Wang, Richard Gonzalez, Kara J. Milliron, Victor J. Strecher, Sofia D. Merajver. (2005) Genetic counseling for BRCA1 / 2 : A randomized controlled trial of two strategies to facilitate the education and counseling process. American Journal of Medical Genetics Part A 134A:1, 66-73
CrossRef87
Lisa Kessler, Aliya Collier, Kiyona Brewster, ChaChira Smith, Benita Weathers, E Paul Wileyto, Chanita Hughes Halbert. (2005) Attitudes about genetic testing and genetic testing intentions in African American women at increased risk for hereditary breast cancer. Genetics in Medicine 7:4, 230-238
CrossRef88
Nikki Peters, Susan M. Domchek, Abigail Rose, Rachael Polis, Jill Stopfer, Katrina Armstrong. (2005) Knowledge, Attitudes, and Utilization of BRCA1/2 Testing among Women with Early-Onset Breast Cancer. Genetic Testing 9:1, 48-53
CrossRef89
Maria T. Laux .. (2005) Breast Cancer: An Overview. International Journal of Cancer Research 1:1, 71-80
CrossRef90
Harvey J. Murff, Daniel Byrne, Jennifer S. Haas, Ann Louise Puopolo, Troyen A. Brennan. (2005) Race and Family History Assessment for Breast Cancer. Journal of General Internal Medicine 20:1, 75-80
CrossRef91
TM Allweis, M Sagi, T Peretz. (2004) Genetic counseling for women with breast cancer: the importance of evaluating the spouse. Clinical Genetics 66:6, 573-574
CrossRef92
Nader Hanna, Heather Pierce. 2004. Hereditary Breast and Ovarian Cancer Syndrome. , 594-599.
CrossRef93
R. D. Kennedy, J. E. Quinn, P. B. Mullan, P. G. Johnston, D. P. Harkin. (2004) The Role of BRCA1 in the Cellular Response to Chemotherapy. JNCI Journal of the National Cancer Institute 96:22, 1659-1668
CrossRef94
Suresh Hedau, Neeraj Jain, Syed A. Husain, Ashish K. Mandal, Gibanananda Ray, M. Shahid, Ravi Kant, Vishal Gupta, Nootan K. Shukla, Suryanarayan S. V. Deo, Bhudev C. Das. (2004) Novel germline mutations in breast cancer susceptibility genes BRCA1, BRCA2 and p53 gene in breast cancer patients from India. Breast Cancer Research and Treatment 88:2, 177-186
CrossRef95
A C Antoniou, P P D Pharoah, P Smith, D F Easton. (2004) The BOADICEA model of genetic susceptibility to breast and ovarian cancer. British Journal of Cancer
CrossRef96
Katherine A. Schneider, Lisa M. DiGianni, Andrea Farkas Patenaude, Neil Klar, Jill E. Stopfer, Kathleen A. Calzone, Frederick P. Li, Barbara L. Weber, Judy E. Garber. (2004) Accuracy of Cancer Family Histories: Comparison of Two Breast Cancer Syndromes. Genetic Testing 8:3, 222-228
CrossRef97
M.S. Brose, P. Volpe, K. Paul, J.E. Stopfer, T.A. Colligon, K.A. Calzone, B.L. Weber. (2004) Characterization of Two Novel BRCA1 Germ-Line Mutations Involving Splice Donor Sites. Genetic Testing 8:2, 133-138
CrossRef98
G L Griffith, R T Edwards, J Gray, C Wilkinson, J Turner, B France, P Bennett. (2004) Estimating the survival benefits gained from providing national cancer genetic services to women with a family history of breast cancer. British Journal of Cancer 90:10, 1912-1919
CrossRef99
G L Griffith, R T Edwards, J Gray. (2004) Cancer genetics services: a systematic review of the economic evidence and issues. British Journal of Cancer
CrossRef100
Alan B Hollingsworth, S.Eva Singletary, Monica Morrow, Darius S Francescatti, Joyce A O'Shaughnessy, Anne-Renee Hartman, Becky Haddad, Freya R Schnabel, Victor G Vogel. (2004) Current comprehensive assessment and management of women at increased risk for breast cancer. The American Journal of Surgery 187:3, 349-362
CrossRef101
Sei Hyun Ahn, Ui Kang Hwang, Beom Seok Kwak, Ho Sung Yoon, Bo Kyung Ku, Hee Jun Kang, Ji Su Kim, Byung Kyun Ko, Chang Dae Ko, Kyung Sik Yoon, Dae-Yeon Cho, Jun Suk Kim, Byung Ho Son. (2004) Prevalence of BRCA1 and BRCA2 Mutations in Korean Breast Cancer Patients. Journal of Korean Medical Science 19:2, 269
CrossRef102
Wendy S. Rubinstein. (2004) Hereditary breast cancer in Jews. Familial Cancer 3:3-4, 249-257
CrossRef103
Elaine Y. Lin, Joan G. Jones, Ping Li, Liyin Zhu, Kathleen D. Whitney, William J. Muller, Jeffrey W. Pollard. (2003) Progression to Malignancy in the Polyoma Middle T Oncoprotein Mouse Breast Cancer Model Provides a Reliable Model for Human Diseases. The American Journal of Pathology 163:5, 2113-2126
CrossRef104
P. LouAnn Cable, Cindy A. Wilson, Frank J. Calzone, Frank J. Rauscher, Ralph Scully, David M. Livingston, Leping Li, Courtney B. Blackwell, P. Andrew Futreal, Cynthia A. Afshari. (2003) Novel consensus DNA-binding sequence for BRCA1 protein complexes. Molecular Carcinogenesis 38:2, 85-96
CrossRef105
Paolo Aretini, Emma D'Andrea, Barbara Pasini, Alessandra Viel, Renato Mariani Costantini, Laura Cortesi, Enrico Ricevuto, Simona Agata, Roberta Bisegna, Mauro Boiocchi, Maria Adelaide Caligo, Luigi Chieco-Bianchi, Giovanna Cipollini, Rosella Crucianelli, Cristina D'Amico, Massimo Federico, Chiara Ghimenti, Clelia De Giacomi, Arcangela De Nicolo, Lara Della Puppa, Sergio Ferrari, Corrado Ficorella, Davide Iandolo, Siranoush Manoukian, Paolo Marchetti, Fabio Marroni, Chiara Menin, Marco Montagna, Laura Ottini, Valeria Pensotti, Marco Pierotti, Paolo Radice, Manuela Santarosa, Vittorio Silingardi, Daniela Turchetti, Generoso Bevilacqua, Silvano Presciuttini. (2003) Different Expressivity of BRCA1 and BRCA2: Analysis of 179 Italian Pedigrees with Identified Mutation. Breast Cancer Research and Treatment 81:1, 71-79
CrossRef106
Guttmacher, Alan E., Collins, Francis S., , Wooster, Richard, Weber, Barbara L., . (2003) Breast and Ovarian Cancer. New England Journal of Medicine 348:23, 2339-2347
Full Text107
Katrina Armstrong, Barbara Weber, Jill Stopfer, Kathleen Calzone, Mary Putt, James Coyne, J. Sanford Schwartz. (2003) Early use of clinical BRCA1/2 testing: Associations with race and breast cancer risk. American Journal of Medical Genetics Part A 117A:2, 154-160
CrossRef108
Katrina Armstrong, Janet Weiner, Barbara Weber, David A. Asch. (2003) Early adoption of BRCA1/2 testing: Who and why. Genetics in Medicine 5:2, 92-98
CrossRef109
Elizabeth B. Claus, Meredith Stowe, Darryl Carter. (2003) Family History of Breast and Ovarian Cancer and the Risk of Breast Carcinoma in situ. Breast Cancer Research and Treatment 78:1, 7-15
CrossRef110
Shou-Tung Chen, Ruei-A Chen, Shou-Jen Kuo, Yi-Chih Chien. (2003) Mutational Screening of Breast Cancer Susceptibility Gene 1 from Early Onset, Bi-lateral, and Familial Breast Cancer Patients in Taiwan. Breast Cancer Research and Treatment 77:2, 133-143
CrossRef111
Olufunmilayo I. Olopade, James D. Fackenthal, Georgia Dunston, Michael A. Tainsky, Francis Collins, Carolyn Whitfield-Broome. (2003) Breast cancer genetics in African Americans. Cancer 97:S1, 236-245
CrossRef112
Eugene Huang, Thomas A. Buchholz, Funda Meric, Savitri Krishnamurthy, Nadeem Q. Mirza, Frederick C. Ames, Barry W. Feig, Henry M. Kuerer, Merrick I. Ross, S. Eva Singletary, Marsha D. McNeese, Eric A. Strom, Kelly K. Hunt. (2002) Classifying local disease recurrences after breast conservation therapy based on location and histology. Cancer 95:10, 2059-2067
CrossRef113
Cindy C. Ruttan, Barry W. Glickman. (2002) Coding variants in human double-strand break DNA repair genes. Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 509:1-2, 175-200
CrossRef114
James D. Fackenthal, Luca Cartegni, Adrian R. Krainer, Olufunmilayo I. Olopade. (2002) BRCA2 T2722R Is a Deleterious Allele That Causes Exon Skipping. The American Journal of Human Genetics 71:3, 625-631
CrossRef115
Vanessa L. Zimmerman. (2002) BRCA Gene Mutations and Cancer. AJN, American Journal of Nursing 102:8, 28-37
CrossRef116
D. M. Euhus. (2002) Pretest Prediction of BRCA1 or BRCA2 Mutation by Risk Counselors and the Computer Model BRCAPRO. CancerSpectrum Knowledge Environment 94:11, 844-851
CrossRef117
Josef S. Herzog, Erik M. Jancis, Shidong Liao, George Somlo, Jeffrey N. Weitzel. (2002) Restriction endonuclease fingerprinting enhanced conformation sensitive gel electrophoresis (REF-CSGE) in the analysis ofBRCA1 exon 11 mutations in a high-risk breast cancer cohort. Human Mutation 19:6, 656-663
CrossRef118
Katrina Armstrong, Barbara Weber, Peter A. Ubel, Carmen Guerra, J.Sanford Schwartz. (2002) Interest in BRCA1/2 Testing in a Primary Care Population. Preventive Medicine 34:6, 590-595
CrossRef119
I BARNESKEDAR, S PLON. (2002) Counseling the at risk patient in the and Era. Obstetrics and Gynecology Clinics of North America 29:2, 341-366
CrossRef120
Mark Reedy, Holly Gallion, Jeffrey M. Fowler, Richard Kryscio, Simon A. Smith. (2002) Contribution of BRCA1 and BRCA2 to Familial Ovarian Cancer: A Gynecologic Oncology Group Study. Gynecologic Oncology 85:2, 255-259
CrossRef121
Bruce G Haffty, Elizabeth Harrold, Atif J Khan, Pradip Pathare, Tanya E Smith, Bruce C Turner, Peter M Glazer, Barbara Ward, Daryl Carter, Ellen Matloff, Allen E Bale, Mayra Alvarez-Franco. (2002) Outcome of conservatively managed early-onset breast cancer by BRCA1/2 status. The Lancet 359:9316, 1471-1477
CrossRef122
Soo-Chin Lee, Barbara A. Bernhardt, Kathy J. Helzlsouer. (2002) Utilization ofBRCA1/2 genetic testing in the clinical setting. Cancer 94:6, 1876-1885
CrossRef123
Yasuo Miyoshi, Kyoko Iwao, Noriko Ikeda, Chiyomi Egawa, Shinzaburo Noguchi. (2002) Acceleration of Chromosomal Instability of BRCA1-Associated Hereditary Breast Cancers by p53 Abnormality. The Breast Journal 8:2, 77-80
CrossRef124
Stephen S Falkenberry, Robert D Legare. (2002) Risk factors for breast cancer. Obstetrics and Gynecology Clinics of North America 29:1, 159-172
CrossRef125
Miguel de la Hoya, Ana Osorio, Javier Godino, Sara Sulleiro, Alicia Tosar, Pedro Perez-Segura, Cristina Fernandez, Raquel Rodr
guez, Eduardo D
CrossRef126
Kristen M. Shannon, Marcie L. Lubratovich, Dianne M. Finkelstein, Barbara L. Smith, Simon N. Powell, Michael V. Seiden. (2002) Model-based predictions of BRCA1/2 mutation status in breast carcinoma patients treated at an academic medical center. Cancer 94:2, 305-313
CrossRef127
Chanita Hughes, Caryn Lerman, Marc Schwartz, Beth N. Peshkin, Lari Wenzel, Steven Narod, Camille Corio, Kenneth P. Tercyak, Danielle Hanna, Claudine Isaacs, David Main. (2002) All in the family: Evaluation of the process and content of sisters' communication aboutBRCA1 andBRCA2 genetic test results. American Journal of Medical Genetics 107:2, 143-150
CrossRef128
David M. Euhus, A. Marilyn Leitch, James F. Huth, George N. Peters. (2002) Limitations of the Gail Model in the Specialized Breast Cancer Risk Assessment Clinic. The Breast Journal 8:1, 23-27
CrossRef129
Mirjana Brankovic-Magic, Radmila Jankovic, Sinisa Radulovic. (2002) Breast cancer susceptibility genes: Options for those carrying BRCA1 mutations. Archive of oncology 10:3, 119-122
CrossRef130
David Cella, Chanita Hughes, Amy Peterman, Chih-Hung Chang, Beth N. Peshkin, Marc D. Schwartz, Lari Wenzel, Amy Lemke, Alfred C. Marcus, Caryn Lerman. (2002) A brief assessment of concerns associated with genetic testing for cancer: The multidimensional impact of cancer risk assessment (MICRA) questionnaire.. Health Psychology 21:6, 564-572
CrossRef131
Claudine Isaacs, Beth N. Peshkin, Marc Schwartz, Tiffani A. DeMarco, David Main, Caryn Lerman. (2002) Breast and Ovarian Cancer Screening Practices in Healthy Women with a Strong Family History of Breast or Ovarian Cancer. Breast Cancer Research and Treatment 71:2, 103-112
CrossRef132
L. C. Hartmann, T. A. Sellers, D. J. Schaid, T. S. Frank, C. L. Soderberg, D. L. Sitta, M. H. Frost, C. S. Grant, J. H. Donohue, J. E. Woods, S. K. McDonnell, C. W. Vockley, A. Deffenbaugh, F. J. Couch, R. B. Jenkins. (2001) Efficacy of Bilateral Prophylactic Mastectomy in BRCA1 and BRCA2 Gene Mutation Carriers. JNCI Journal of the National Cancer Institute 93:21, 1633-1637
CrossRef133
Nelson L.S Tang, K.W Choy, C.P Pang, W Yeo, P.J Johnson. (2001) Prevalence of breast cancer predisposition gene mutations in Chinese women and guidelines for genetic testing. Clinica Chimica Acta 313:1-2, 179-185
CrossRef134
E Dagan, R Gershoni-Baruch. (2001) Hereditary breast/ovarian cancer - pitfalls in genetic counseling. Clinical Genetics 60:4, 310-313
CrossRef135
Marc D. Schwartz, Judith Benkendorf, Caryn Lerman, Claudine Isaacs, Anna Ryan-Robertson, Lenora Johnson. (2001) Impact of educational print materials on knowledge, attitudes, and interest in BRCA1/BRCA2. Cancer 92:4, 932-940
CrossRef136
Jon Emery, Anneke Lucassen, Michael Murphy. (2001) Common hereditary cancers and implications for primary care. The Lancet 358:9275, 56-63
CrossRef137
Arupa Ganguly, Michael Citron, Lynn Godmilow, Mary Ahrens, Tapan Ganguly. (2001) Caucasian family with two independent mutations: 2594delC inBRCA1 and 5392delAG inBRCA2 gene. American Journal of Medical Genetics 101:2, 146-152
CrossRef138
Chiyomi Egawa, Yasuo Miyoshi, Tetsuya Taguchi, Yasuhiro Tamaki, Shinzaburo Noguchi. (2001) Quantitative Analysis of BRCA1 and BRCA2 mRNA Expression in Sporadic Breast Carcinomas and Its Relationship with Clinicopathological Characteristics. Cancer Science 92:6, 624-630
CrossRef139
Patricia N. Tonin, Chantal Perret, Julie A. Lambert, Anne-Jos
CrossRef140
Rachael T. Brandt, Henry T. Lynch. (2001) BRCA1 and BRCA2: to test or not to test. Breast Cancer Research and Treatment 67:2, 187-188
CrossRef141
Christine M. Velicer, Stephen Taplin. (2001) Genetic testing for breast cancer: Where are health care providers in the decision process?. Genetics in Medicine 3:2, 112-119
CrossRef142
Charis Eng, Heather Hampel, Albert de la Chapelle. (2001) G
ENETIC TESTING FOR CANCER PREDISPOSITION . Annual Review of Medicine 52:1, 371-400
CrossRef143
Alfonso Lopez-Touza, Jorge F. Cameselle-Teijeiro, Avelino Senra-Varela. (2001) Familial Breast Cancer: Proposal of New Criteria. The Breast Journal 7:1, 70-71
CrossRef144
Lisa A. Newman, Henry M. Kuerer, Kelly K. Hunt, George Vlastos, Frederick C. Ames, Merrick I. Ross, S. Eva Singletary. (2001) Educational Review: Role of the Surgeon in Hereditary Breast Cancer. Annals of Surgical Oncology 8:4, 368-378
CrossRef145
Gasan Mackarem, Constance A. Roche, Kevin S. Hughes. (2001) The Effectiveness of the Gail Model in Estimating Risk for Development of Breast Cancer in Women Under 40 Years of Age. The Breast Journal 7:1, 34-39
CrossRef146
Noriko Ikeda, Yasuo Miyoshi, Kohri Yoneda, Eiichi Shiba, Yoshizo Sekihara, Moritoshi Kinoshita, Shinzaburo Noguchi. (2001) Frequency ofBRCA1 andBRCA2 germline mutations in Japanese breast cancer families. International Journal of Cancer 91:1, 83-88
CrossRef147
Deborah J. Rhodes, Lynn C. Hartmann, Edith A. Perez. (2000) Breast cancer prevention trials. Current Oncology Reports 2:6, 558-565
CrossRef148
Madhuri R. Hegde, Belinda Chong, Matthew J. Fawkner, Jenny Leary, Andrew N. Shelling, Bronwyn Culling, Ingrid Winship, Donald R. Love. (2000) Hierarchical mutation screening protocol for theBRCA1 gene. Human Mutation 16:5, 422-430
CrossRef149
I.C. Bennett, M. Gattas, B.T. Teh. (2000) The management of familial breast cancer. The Breast 9:5, 247-263
CrossRef150
Meredith A. Unger, Katherine L. Nathanson, Kathleen Calzone, Danielle Antin-Ozerkis, Helen A. Shih, Anne-Marie Martin, Gilbert M. Lenoir, Sylvie Mazoyer, Barbara L. Weber. (2000) Screening for Genomic Rearrangements in Families with Breast and Ovarian Cancer Identifies BRCA1 Mutations Previously Missed by Conformation-Sensitive Gel Electrophoresis or Sequencing. The American Journal of Human Genetics 67:4, 841-850
CrossRef151
M. Steel. (2000) Familial Breast Cancer: The Problems of Circumstantial Evidence. Clinical Oncology 12:5, 298-299
CrossRef152
CA Gilpin, N Carson, AGW Hunter. (2000) A preliminary validation of a family history assessment form to select women at risk for breast or ovarian cancer for referral to a genetics center. Clinical Genetics 58:4, 299-308
CrossRef153
D Turchetti, L Cortesi, M Federico, C Bertoni, L Mangone, Se Ferrari, V Silingardi. (2000) BRCA1 mutations and clinicopathological features in a sample of Italian women with early-onset breast cancer. European Journal of Cancer 36:16, 2083-2089
CrossRef154
Gay Hui Ho, Beng Hooi Phang, Ivy S. L. Ng, Hai Yang Law, Khee Chee Soo, Eng Hen Ng. (2000) Novel germlineBRCA1 mutations detected in women in Singapore who developed breast carcinoma before the age of 36 years. Cancer 89:4, 811-816
CrossRef155
Brita Arver, Quan Du, Jindong Chen, Liping Luo, Annika Lindblom. (2000) Hereditary breast cancer: a review. Seminars in Cancer Biology 10:4, 271-288
CrossRef156
Pamela J. Goodwin. (2000) Management of familial breast cancer risk. Breast Cancer Research and Treatment 62:1, 19-33
CrossRef157
Dwight E. Heron, Lydia T. Komarnicky, Terry Hyslop, Gordon F. Schwartz, Carl M. Mansfield. (2000) Bilateral breast carcinoma. Cancer 88:12, 2739-2750
CrossRef158
Olufunmilayo I. Olopade, James D. Fackenthal. (2000) BREAST CANCER GENETICS. Hematology/Oncology Clinics of North America 14:3, 705-725
CrossRef159
Jill E. Stopfer. (2000) Genetic counseling and clinical cancer genetics services. Seminars in Surgical Oncology 18:4, 347-357
CrossRef160
Stephen E. Karp. (2000) Clinical management of BRCA1- and BRCA2-associated breast cancer. Seminars in Surgical Oncology 18:4, 296-304
CrossRef161
Pierre O. Chappuis, Victoria Nethercot, William D. Foulkes. (2000) Clinico-pathological characteristics of BRCA1- and BRCA2-related breast cancer. Seminars in Surgical Oncology 18:4, 287-295
CrossRef162
H Anton-Culver. (2000) Characteristics of BRCA1 mutations in a population-based case series of breast and ovarian cancer. European Journal of Cancer 36:10, 1200-1208
CrossRef163
Hongtao Zhang, Qiang Wang, Kiichi Kajino, Mark I. Greene. (2000) VCP, a Weak ATPase Involved in Multiple Cellular Events, Interacts Physically with BRCA1 in the Nucleus of Living Cells. DNA and Cell Biology 19:5, 253-263
CrossRef164
A. Bansal, G. C. Critchfield, T. S. Frank, J. E. Reid, A. Thomas, A. M. Deffenbaugh, S. L. Neuhausen. (2000) The Predictive Value of BRCA1 and BRCA2 Mutation Testing. Genetic Testing 4:1, 45-48
CrossRef165
Kathleen E. Malone, Janet R. Daling, Cassandra Neal, Nicola M. Suter, Cecilia O'Brien, Kara Cushing-Haugen, Thora J. Jonasdottir, Jennifer D. Thompson, Elaine A. Ostrander. (2000) Frequency ofBRCA1/BRCA2 mutations in a population-based sample of young breast carcinoma cases. Cancer 88:6, 1393-1402
CrossRef166
P. H. Pestonjamasp, I. Mittra. (2000) Analysis of BRCA1 involvement in breast cancer in Indian women. Journal of Biosciences 25:1, 19-23
CrossRef167
Kathryn A Carolin, Helen A Pass. (2000) Prevention of breast cancer. Critical Reviews in Oncology/Hematology 33:3, 221-238
CrossRef168
Wylie Burke, Julie O. Culver, Deborah Bowen, Diana Lowry, Sharon Durfy, Anne McTiernan, M. Robyn Andersen. (2000) Genetic counseling for women with an intermediate family history of breast cancer. American Journal of Medical Genetics 90:5, 361-368
CrossRef169
Armstrong, Katrina, Eisen, Andrea, Weber, Barbara, . (2000) Assessing the Risk of Breast Cancer. New England Journal of Medicine 342:8, 564-571
Full Text170
Joel S. Solomon, Charles F. Brunicardi, Jeffrey D. Friedman. (2000) Evaluation and Treatment of BRCA-Positive Patients. Plastic & Reconstructive Surgery 105:2, 714-719
CrossRef171
James C. Coyne, Nili R. Benazon, Collette Glynn Gaba, Kathleen Calzone, Barbara L. Weber. (2000) Distress and psychiatric morbidity among women from high-risk breast and ovarian cancer families.. Journal of Consulting and Clinical Psychology 68:5, 864-874
CrossRef172
Susan Cain. (2000) CE Forum. Breast Cancer Genetics and the Role of Tamoxifen in Prevention. Journal of the American Academy of Nurse Practitioners 12:1, 21-28
CrossRef173
John L. Hopper, Mark A. Jenkins. (1999) Modeling the Probability That Ashkenazi Jewish Women Carry a Founder Mutation in BRCA1 or BRCA2. The American Journal of Human Genetics 65:6, 1771-1775
CrossRef174
Susan L. Neuhausen. (1999) Ethnic differences in cancer risk resulting from genetic variation. Cancer 86:S11, 2575-2582
CrossRef175
Andrew Berchuck, Joellen M. Schildkraut, Jeffrey R. Marks, P. Andrew Futreal. (1999) Managing hereditary ovarian cancer risk. Cancer 86:S11, 2517-2524
CrossRef176
Jeffrey N. Weitzel. (1999) Genetic cancer risk assessment. Cancer 86:S11, 2483-2492
CrossRef177
William E. Richards, Holly H. Gallion, Jason P. Schmittschmitt, Dawn V. Holladay, Simon A. Smith. (1999) BRCA1-Related and Sporadic Ovarian Cancer in the Same Family: Implications for Genetic Testing. Gynecologic Oncology 75:3, 468-472
CrossRef178
Linda B. Schultz, Barbara L. Weber. (1999) Recent advances in breast cancer biology. Current Opinion in Oncology 11:6, 429
CrossRef179
Andrew Berchuck, Joellen M. Schildkraut, Jeffrey R. Marks, P. Andrew Futreal. (1999) Managing hereditary ovarian cancer risk. Cancer 86:S8, 1697-1704
CrossRef180
Susan L. Neuhausen. (1999) Ethnic differences in cancer risk resulting from genetic variation. Cancer 86:S8, 1755-1762
CrossRef181
Jeffrey N. Weitzel. (1999) Genetic cancer risk assessment. Cancer 86:S8, 1663-1672
CrossRef182
R.-D. Hesch, P. Kenemans. (1999) Hormonal prevention of breast cancer: proposal for a change in paradigm. BJOG: An International Journal of Obstetrics and Gynaecology 106:10, 1006-1018
CrossRef183
Lynn C. Hartmann, Thomas A. Sellers, Daniel J. Schaid, Susan Nayfield, Clive S. Grant, Julie A. Bjoraker, John Woods, Fergus Couch. (1999) CLINICAL OPTIONS FOR WOMEN AT HIGH RISK FOR BREAST CANCER. Surgical Clinics of North America 79:5, 1189-1206
CrossRef184
Bettina Meiser, Phyllis Butow, Alexandra Barratt, Michael Friedlander, Michael Gattas, Judy Kirk, Graeme Suthers, Ian Walpole, Katherine Tucker. (1999) Attitudes toward Prophylactic Oophorectomy and Screening Utilization in Women at Increased Risk of Developing Hereditary Breast/Ovarian Cancer. Gynecologic Oncology 75:1, 122-129
CrossRef185
Fran
CrossRef186
Bernd Gerber, Klaus Friese. (1999) Effektivität der bilateralen mastektomie bei frauen mit familiärer brustkrebsanamnese. Strahlentherapie und Onkologie 175:6, 295-296
CrossRef187
Thomas S Frank. (1999) Laboratory identification of hereditary risk of breast and ovarian cancer. Current Opinion in Biotechnology 10:3, 289-294
CrossRef188
Shinzaburo Noguchi, Tsutomu Kasugai, Yoshio Miki, Takashi Fukutomi, Mitsuru Emi, Tadashi Nomizu. (1999) Clinicopathologic analysis of BRCA1- or BRCA2-associated hereditary breast carcinoma in Japanese women. Cancer 85:10, 2200-2205
CrossRef189
Cindy L. Carter, B. Jo Hailey. (1999) Psychological Issues in Genetic Testing for Breast Cancer. Women & Health 28:4, 73-91
CrossRef190
Patricia Hartge, Jeffery P. Struewing, Sholom Wacholder, Lawrence C. Brody, Margaret A. Tucker. (1999) The Prevalence of Common BRCA1 and BRCA2 Mutations among Ashkenazi Jews. The American Journal of Human Genetics 64:4, 963-970
CrossRef191
P. Devilee. (1999) BRCA1 and BRCA2 Testing: Weighing the Demand against the Benefits. The American Journal of Human Genetics 64:4, 943-948
CrossRef192
Alfred C. Marcus, Dennis Ahnen, Gary Cutter, Ned Calonge, Sarah Russell, Scot M. Sedlacek, Marie Wood, David Manchester, Lynda Fox, Worta McCaskill-Stevens, Diane Fairclough, Steve Hines, Lari Wenzel, Kyle Osborn. (1999) Promoting Cancer Screening among the First-Degree Relatives of Breast and Colorectal Cancer Patients: The Design of Two Randomized Trials. Preventive Medicine 28:3, 229-242
CrossRef193
Ian C. Bennett, Michael Gattas, Bin Tean Teh. (1999) THE GENETIC BASIS OF BREAST CANCER AND ITS CLINICAL IMPLICATIONS. ANZ Journal of Surgery 69:2, 95-105
CrossRef194
I. Irminger-Finger, B.D. Siegel, W.-C. Leung. (1999) The Functions of Breast Cancer Susceptibility Gene 1 (BRCA1) Product and Its Associated Proteins. Biological Chemistry 380:2, 117-128
CrossRef195
Jeffrey N. Weitzel. (1999) The current social, political, and medical role of genetic testing in familial breast and ovarian carcinomas. Current Opinion in Obstetrics and Gynaecology 11:1, 65-70
CrossRef196
Hartmann, Lynn C., Schaid, Daniel J., Woods, John E., Crotty, Thomas P., Myers, Jeffrey L., Arnold, P.G., Petty, Paul M., Sellers, Thomas A., Johnson, Joanne L., McDonnell, Shannon K., Frost, Marlene H., Grant, Clive S., Michels, Virginia V., Jenkins, Robert B., . (1999) Efficacy of Bilateral Prophylactic Mastectomy in Women with a Family History of Breast Cancer. New England Journal of Medicine 340:2, 77-84
Full Text197
Eisen, Andrea, Weber, Barbara L., . (1999) Prophylactic Mastectomy — The Price of Fear. New England Journal of Medicine 340:2, 137-138
Full Text198
Patricia T. Kelly. (1999) Hereditary Breast Cancer: Risk Assessment Is the Easy Part. The Breast Journal 5:1, 52-58
CrossRef199
Judy Mouchawar, Tim Byers, Gary Cutter, Mark Dignan, Sharon Michael. (1999) A Study of the Relationship Between Family History of Breast Cancer and Knowledge of Breast Cancer Genetic Testing Prerequisites. Cancer Detection <html_ent glyph="@amp;" ascii="&"/> Prevention 23:1, 22-30
CrossRef200
Robert F. Rizzo. (1999) Genetic testing and therapy: A pathway to progress and/or profit?. International Journal of Social Economics 26:1/2/3, 109-133
CrossRef201
Jane E. Armes, A. J. Matthew Egan, Melissa C. Southey, Gillian S. Dite, Margaret R. E. McCredie, Graham G. Giles, John L. Hopper, Deon J. Venter. (1998) The histologic phenotypes of breast carcinoma occurring before age 40 years in women with and without BRCA1 or BRCA2 germline mutations. Cancer 83:11, 2335-2345
CrossRef202
Kelly-Anne Phillips. (1998) Breast carcinoma in carriers of BRCA1 or BRCA2 mutations. Cancer 83:11, 2251-2254
CrossRef203
John Bell. (1998) Medical implications of understanding complex disease traits. Current Opinion in Biotechnology 9:6, 573-577
CrossRef204
Manuela Santarosa, Alessandra Viel, Riccardo Dolcetti, Diana Crivellari, Maria Donatella Magri, Maria Antonietta Pizzichetta, Maria Grazia Tibiletti, Angelo Gallo, Salvatore Tumolo, Laura Del Tin, Mauro Boiocchi. (1998) Low incidence ofBRCA1 mutations among Italian families with breast and ovarian cancer. International Journal of Cancer 78:5, 581-586
CrossRef205
Jodi D. Hoffman, Stephanie E. Hallam, Vickie L. Venne, Elaine Lyon, Kenneth Ward. (1998) Implications of a novel cryptic splice site in the BRCA1 gene. American Journal of Medical Genetics 80:2, 140-144
CrossRef206
J. Dirk Iglehart, Alexander Miron, Barbara K. Rimer, Eric P. Winer, Donald Berry, Joellen M. Shildkraut. (1998) Overestimation of Hereditary Breast Cancer Risk. Annals of Surgery 228:3, 375-384
CrossRef207
Joseph S. Alper, Jon Beckwith. (1998) Distinguishing genetic from nongenetic medical tests: Some implications for antidiscrimination legislation. Science and Engineering Ethics 4:2, 141-150
CrossRef208
Albert de la Chapelle, Päivi Peltomäki. (1998) The genetics of hereditary common cancers. Current Opinion in Genetics & Development 8:3, 298-303
CrossRef209
Lalita A. Shevde, Narendra N. Joshi, Shashank R. Shinde, Jayshree J. Nadkarni. (1998) Studies on Functional Status of Circulating Lymphocytes in Unaffected Members from Cancer Families. Human Immunology 59:6, 373-381
CrossRef210
Lawrence C Brody, Barbara Bowles Biesecker. (1998) Breast Cancer Susceptibility Genes. Medicine 77:3, 208-226
CrossRef211
G. Bruce Mann, Patrick I. Borgen. (1998) Breast cancer genes and the surgeon. Journal of Surgical Oncology 67:4, 267-274
CrossRef212
Therese Sørlie, Tone Ikdahl Andersen, Ida Bukholm, Anne-Lise Børresen-Dale. (1998) Mutation screening of BRCA1 using PTT and LOH analysis at 17q21 in breast carcinomas from familial and non-familial cases. Breast Cancer Research and Treatment 48:3, 259-264
CrossRef213
LESLIE RAFFEL. (1998) Genetic Counseling and Genetic Testing for Cancer Risk Assessment. Clinical Obstetrics and Gynecology 41:1, 141-156
CrossRef214
ANDREW BERCHUCK, MICHAEL CARNEY, JONATHAN M. LANCASTER, JEFFREY MARKS, ANDREW P. FUTREAL. (1998) Familial Breast-Ovarian Cancer Syndromes. Clinical Obstetrics and Gynecology 41:1, 157-166
CrossRef215
Theresa M. Diamond, Rebecca Sutphen, Maggi Tabano, James Fiorica. (1998) Inherited susceptibility to breast and ovarian cancer. Current Opinion in Obstetrics and Gynaecology 10:1, 3-8
CrossRef216
Ronald P Zweemer, Renée H.M. Verheijen, Johan J.P. Gille, Paul J. van Dies, Gerard Pals, Fred H. Menko. (1998) Clinical and genetic evaluation of thirty ovarian cancer families. American Journal of Obstetrics and Gynecology 178:1, 85-90
CrossRef217
Giovanni Parmigiani, Donald A. Berry, Omar Aguilar. (1998) Determining Carrier Probabilities for Breast Cancer–Susceptibility Genes BRCA1 and BRCA2. The American Journal of Human Genetics 62:1, 145-158
CrossRef218
FRED GILBERT, MARY KAY DABNEY, KAREN DIEMER, SAMANTHA LUDWIG, GLADYS ROSENTHAL, MICHAEL P. OSBORNE. (1997) BRCA1/BRCA2 Mutations and Breast Cancer in Ashkenazi Jewish Women. Annals of the New York Academy of Sciences 833:1 Cancer, 198-203
CrossRef219
Alain Rappaport. (1997) From syntax to semantics. Nature Biotechnology 15:12, 1228-1228
CrossRef220
Patricia T. Kelly. (1997) Breast Cancer Risk Assessment and Counseling: A Clinician's Guide. The Breast Journal 3:6, 311-316
CrossRef221
Rache M. Simmons, Michael P. Osborne. (1997) Prophylactic Mastectomy. The Breast Journal 3:6, 372-379
CrossRef222
(1997) Risk of Breast Cancer in Carriers of BRCA Gene Mutations. New England Journal of Medicine 337:11, 787-789
Full Text223
Adriaan Visser, Eveline Bleiker. (1997) Genetic education and counseling. Patient Education and Counseling 32:1-2, 1-7
CrossRef224
I Mittra, KN Naresh. (1997) Unexpected failures … and successes. The Lancet 350, SIII17
CrossRef225
Schrag, Deborah, Kuntz, Karen M., Garber, Judy E., Weeks, Jane C., . (1997) Decision Analysis — Effects of Prophylactic Mastectomy and Oophorectomy on Life Expectancy among Women with BRCA1 or BRCA2 Mutations. New England Journal of Medicine 336:20, 1465-1471
Full Text226
Healy, Bernadine, . (1997) BRCA Genes — Bookmaking, Fortunetelling, and Medical Care. New England Journal of Medicine 336:20, 1448-1449
Full Text227
SUSAN L. NEUHAUSEN, ELAINE A. OSTRANDER. (1997) Mutation Testing of Early-Onset Breast Cancer Genes BRCA1 and BRCA2. Genetic Testing 1:2, 75-83
CrossRef228
ARUPA GANGULY, KEVIN LEAHY, ANDREW M. MARSHALL, ROHINI DHULIPALA, LYNN GODMILOW, TAPAN GANGULY. (1997) Genetic Testing for Breast Cancer Susceptibility: Frequency of BRCA1 and BRCA2 Mutations. Genetic Testing 1:2, 85-90
CrossRef229
KATHERINE A. SCHNEIDER. (1997) Genetic Counseling for BRCA1/BRCA2 Testing. Genetic Testing 1:2, 91-98
CrossRef230
MOHAMMAD R. ABBASZADEGAN, JEFFERY P. STRUEWING, KEVIN M. BROWN, JIM V. SNIDER, FREDRICO GOODSAID, ROBERT GORE-LANGTON, MARK R. HUGHES. (1997) Automated Detection of Prevalent Mutations in BRCA1 and BRCA2 Genes, Using a Fluorogenic PCR Allelic Discrimination Assay. Genetic Testing 1:3, 171-180
CrossRef
