FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 336:1409-1415 May 15, 1997 Number 20 Next

Abstract PDF Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

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.

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 0.5x TRIS-taurine–EDTA buffer (1x 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 1 gives the frequency of these diseases, and Table 2 shows the average age at diagnosis of breast cancer in families.

View this table: [in this window] [in a new window]   Table 1. Distribution of BRCA1 Mutations in 169 Families with Breast Cancer.

 

View this table: [in this window] [in a new window]   Table 2. Frequency of BRCA1 Mutations According to the Average Age at Diagnosis of Breast Cancer.

 
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 1). 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.

View larger version (6K): [in this window] [in a new window]   Figure 1. Location and Tumor Specificity of the 27 BRCA1 Mutations Identified in Families with Breast Cancer. Exon 1 and the coding region of BRCA1 are depicted, with exons 1, 2, 11, and 24 included for reference. The translation start site is located at the mutation Met1Ile.

 
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 3.

View this table: [in this window] [in a new window]   Table 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.^20,21,22

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),^24,25,26 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. 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).

Address reprint requests to Dr. Weber at the University of Pennsylvania, 1009 Stellar Chance Laboratories, 422 Curie Blvd., Philadelphia, PA 19104.

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.] [Free Full Text]
2. 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. [Free Full Text]
3. 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. [Medline]
4. Slattery ML, Kerber RA. A comprehensive evaluation of family history and breast cancer risk: the Utah Population Database. JAMA 1993;270:1563-1568. [Free Full Text]
5. 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. [Free Full Text]
6. Wooster R, Bignell G, Lancaster J, et al. Identification of the breast cancer susceptibility gene BRCA2. Nature 1995;378:789-792. [CrossRef][Medline]
7. 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][Medline]
8. Easton DF, Ford D, Bishop DT, Breast Cancer Linkage Consortium. Breast and ovarian cancer incidence in BRCA1-mutation carriers. Am J Hum Genet 1995;56:265-271. [Medline]
9. Ford D, Easton DF, Bishop DT, Narod SA, Goldgar DE, Breast Cancer Linkage Consortium. Risks of cancer in BRCA1-mutation carriers. Lancet 1994;343:692-695. [CrossRef][Medline]
10. 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. [Free Full Text]
11. Holt JT, Thompson ME, Szabo C, et al. Growth retardation and tumour inhibition by BRCA1. Nat Genet 1996;12:298-302. [CrossRef][Medline]
12. 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][Medline]
13. 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][Medline]
14. 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][Medline]
15. 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. [Free Full Text]
16. 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. [Free Full Text]
17. 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][Medline]
18. 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. [Free Full Text]
19. 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][Medline]
20. 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. [Free Full Text]
21. 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][Medline]
22. 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. [Free Full Text]
23. Li FP, Fraumeni JF Jr, Mulvihill JJ, et al. A cancer family syndrome in 24 kindreds. Cancer Res 1988;48:5358-5362. [Free Full Text]
24. 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. [Medline]
25. 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][Medline]
26. 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. [Medline]
27. Brownstein MH, Wolf M, Bikowski JB. Cowden's disease: a cutaneous marker of breast cancer. Cancer 1978;41:2393-2398. [CrossRef][Medline]

Abstract PDF Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

This article has been cited by other articles:

• Guerra, C. E., Sherman, M., Armstrong, K. (2009). Diffusion of Breast Cancer Risk Assessment in Primary Care. J Am Board Fam Med 22: 272-279 [Abstract] [Full Text]  
• Al-Mulla, F, Bland, J M, Serratt, D, Miller, J, Chu, C, Taylor, G T (2009). Age-dependent penetrance of different germline mutations in the BRCA1 gene. J. Clin. Pathol. 62: 350-356 [Abstract] [Full Text]  
• Huo, D., Senie, R. T., Daly, M., Buys, S. S., Cummings, S., Ogutha, J., Hope, K., Olopade, O. I. (2009). Prediction of BRCA Mutations Using the BRCAPRO Model in Clinic-Based African American, Hispanic, and Other Minority Families in the United States. JCO 27: 1184-1190 [Abstract] [Full Text]  
• Chan, K Y-K, Liu, W, Long, J-R, Yip, S-P, Chan, S-Y, Shu, X-O, Chua, D T-T, Cheung, A N-Y, Ching, J C-Y, Cai, H, Au, G K-H, Chan, M, Foo, W, Ngan, H Y-S, Gao, Y-T, Ngan, E S-W, Garcia-Barcelo, M-M, Zheng, W., Khoo, U-S (2009). Functional polymorphisms in the BRCA1 promoter influence transcription and are associated with decreased risk for breast cancer in Chinese women. J. Med. Genet. 46: 32-39 [Abstract] [Full Text]  
• Olopade, O. I., Grushko, T. A., Nanda, R., Huo, D. (2008). Advances in Breast Cancer: Pathways to Personalized Medicine. Clin. Cancer Res. 14: 7988-7999 [Abstract] [Full Text]  
• Allain, D. C. (2008). Genetic Counseling and Testing for Common Hereditary Breast Cancer Syndromes: A Paper from the 2007 William Beaumont Hospital Symposium on Molecular Pathology. J. Mol. Diagn. 10: 383-395 [Abstract] [Full Text]  
• Palma, M. D., Domchek, S. M., Stopfer, J., Erlichman, J., Siegfried, J. D., Tigges-Cardwell, J., Mason, B. A., Rebbeck, T. R., Nathanson, K. L. (2008). The Relative Contribution of Point Mutations and Genomic Rearrangements in BRCA1 and BRCA2 in High-Risk Breast Cancer Families. Cancer Res. 68: 7006-7014 [Abstract] [Full Text]  
• Huo, D., Olopade, O. I. (2007). Genetic Testing in Diverse Populations: Are Researchers Doing Enough to Get Out the Correct Message?. JAMA 298: 2910-2911 [Full Text]  
• Parmigiani, G., Chen, S., Iversen, E. S. Jr, Friebel, T. M., Finkelstein, D. M., Anton-Culver, H., Ziogas, A., Weber, B. L., Eisen, A., Malone, K. E., Daling, J. R., Hsu, L., Ostrander, E. A., Peterson, L. E., Schildkraut, J. M., Isaacs, C., Corio, C., Leondaridis, L., Tomlinson, G., Amos, C. I., Strong, L. C., Berry, D. A., Weitzel, J. N., Sand, S., Dutson, D., Kerber, R., Peshkin, B. N., Euhus, D. M. (2007). Validity of Models for Predicting BRCA1 and BRCA2 Mutations. ANN INTERN MED 147: 441-450 [Abstract] [Full Text]  
• Weitzel, J. N., Lagos, V. I., Herzog, J. S., Judkins, T., Hendrickson, B., Ho, J. S., Ricker, C. N., Lowstuter, K. J., Blazer, K. R., Tomlinson, G., Scholl, T. (2007). Evidence for Common Ancestral Origin of a Recurring BRCA1 Genomic Rearrangement Identified in High-Risk Hispanic Families. Cancer Epidemiol. Biomarkers Prev. 16: 1615-1620 [Abstract] [Full Text]  
• Weitzel, J. N., Lagos, V. I., Cullinane, C. A., Gambol, P. J., Culver, J. O., Blazer, K. R., Palomares, M. R., Lowstuter, K. J., MacDonald, D. J. (2007). Limited Family Structure and BRCA Gene Mutation Status in Single Cases of Breast Cancer. JAMA 297: 2587-2595 [Abstract] [Full Text]  
• Kauff, N. D., Offit, K. (2007). Modeling Genetic Risk of Breast Cancer. JAMA 297: 2637-2639 [Full Text]  
• Kim, H., Chen, J., Yu, X. (2007). Ubiquitin-Binding Protein RAP80 Mediates BRCA1-Dependent DNA Damage Response. Science 316: 1202-1205 [Abstract] [Full Text]  
• James, C. R., Quinn, J. E., Mullan, P. B., Johnston, P. G., Harkin, D. P. (2007). BRCA1, a Potential Predictive Biomarker in the Treatment of Breast Cancer. The Oncologist 12: 142-150 [Abstract] [Full Text]  
• Tercyak, K. P., Peshkin, B. N., Brogan, B. M., DeMarco, T., Pennanen, M. F., Willey, S. C., Magnant, C. M., Rogers, S., Isaacs, C., Schwartz, M. D. (2007). Quality of Life After Contralateral Prophylactic Mastectomy in Newly Diagnosed High-Risk Breast Cancer Patients Who Underwent BRCA1/2 Gene Testing. JCO 25: 285-291 [Abstract] [Full Text]  
• Balmana, J., Stockwell, D. H., Steyerberg, E. W., Stoffel, E. M., Deffenbaugh, A. M., Reid, J. E., Ward, B., Scholl, T., Hendrickson, B., Tazelaar, J., Burbidge, L. A., Syngal, S. (2006). Prediction of MLH1 and MSH2 mutations in Lynch syndrome.. JAMA 296: 1469-1478 [Abstract] [Full Text]  
• Muraoka-Cook, R. S., Caskey, L. S., Sandahl, M. A., Hunter, D. M., Husted, C., Strunk, K. E., Sartor, C. I., Rearick, W. A. Jr., McCall, W., Sgagias, M. K., Cowan, K. H., Earp, H. S. III (2006). Heregulin-Dependent Delay in Mitotic Progression Requires HER4 and BRCA1.. Mol. Cell. Biol. 26: 6412-6424 [Abstract] [Full Text]  
• Malone, K. E., Daling, J. R., Doody, D. R., Hsu, L., Bernstein, L., Coates, R. J., Marchbanks, P. A., Simon, M. S., McDonald, J. A., Norman, S. A., Strom, B. L., Burkman, R. T., Ursin, G., Deapen, D., Weiss, L. K., Folger, S., Madeoy, J. J., Friedrichsen, D. M., Suter, N. M., Humphrey, M. C., Spirtas, R., Ostrander, E. A. (2006). Prevalence and Predictors of BRCA1 and BRCA2 Mutations in a Population-Based Study of Breast Cancer in White and Black American Women Ages 35 to 64 Years. Cancer Res. 66: 8297-8308 [Abstract] [Full Text]  
• Pierce, L. J., Levin, A. M., Rebbeck, T. R., Ben-David, M. A., Friedman, E., Solin, L. J., Harris, E. E., Gaffney, D. K., Haffty, B. G., Dawson, L. A., Narod, S. A., Olivotto, I. A., Eisen, A., Whelan, T. J., Olopade, O. I., Isaacs, C., Merajver, S. D., Wong, J. S., Garber, J. E., Weber, B. L. (2006). Ten-Year Multi-Institutional Results of Breast-Conserving Surgery and Radiotherapy in BRCA1/2-Associated Stage I/II Breast Cancer. JCO 24: 2437-2443 [Abstract] [Full Text]  
• Chen, S., Iversen, E. S., Friebel, T., Finkelstein, D., Weber, B. L., Eisen, A., Peterson, L. E., Schildkraut, J. M., Isaacs, C., Peshkin, B. N., Corio, C., Leondaridis, L., Tomlinson, G., Dutson, D., Kerber, R., Amos, C. I., Strong, L. C., Berry, D. A., Euhus, D. M., Parmigiani, G. (2006). Characterization of BRCA1 and BRCA2 Mutations in a Large United States Sample. JCO 24: 863-871 [Abstract] [Full Text]  
• James, P. A., Doherty, R., Harris, M., Mukesh, B. N., Milner, A., Young, M.-A., Scott, C. (2006). Optimal Selection of Individuals for BRCA Mutation Testing: A Comparison of Available Methods. JCO 24: 707-715 [Abstract] [Full Text]  
• Barcenas, C. H., Hosain, G.M. M., Arun, B., Zong, J., Zhou, X., Chen, J., Cortada, J. M., Mills, G. B., Tomlinson, G. E., Miller, A. R., Strong, L. C., Amos, C. I. (2006). Assessing BRCA Carrier Probabilities in Extended Families. JCO 24: 354-360 [Abstract] [Full Text]  
• Halbert, C. H., Brewster, K., Collier, A., Smith, C., Kessler, L., Weathers, B., Stopfer, J. E., Domchek, S., Wileyto, E. P. (2005). Recruiting African American Women to Participate in Hereditary Breast Cancer Research. JCO 23: 7967-7973 [Abstract] [Full Text]  
• Kristiansen, M, Knudsen, G P S, Maguire, P, Margolin, S, Pedersen, J, Lindblom, A, Orstavik, K H (2005). High incidence of skewed X chromosome inactivation in young patients with familial non-BRCA1/BRCA2 breast cancer. J. Med. Genet. 42: 877-880 [Abstract] [Full Text]  
• Nanda, R., Schumm, L. P., Cummings, S., Fackenthal, J. D., Sveen, L., Ademuyiwa, F., Cobleigh, M., Esserman, L., Lindor, N. M., Neuhausen, S. L., Olopade, O. I. (2005). Genetic Testing in an Ethnically Diverse Cohort of High-Risk Women: A Comparative Analysis of BRCA1 and BRCA2 Mutations in American Families of European and African Ancestry. JAMA 294: 1925-1933 [Abstract] [Full Text]  
• U.S. Preventive Services Task Force*, (2005). Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: Recommendation Statement. ANN INTERN MED 143: 355-361 [Abstract] [Full Text]  
• Nelson, H. D., Huffman, L. H., Fu, R., Harris, E. L. (2005). Genetic Risk Assessment and BRCA Mutation Testing for Breast and Ovarian Cancer Susceptibility: Systematic Evidence Review for the U.S. Preventive Services Task Force. ANN INTERN MED 143: 362-379 [Abstract] [Full Text]  
• Weitzel, J. N., Lagos, V., Blazer, K. R., Nelson, R., Ricker, C., Herzog, J., McGuire, C., Neuhausen, S. (2005). Prevalence of BRCA Mutations and Founder Effect in High-Risk Hispanic Families. Cancer Epidemiol. Biomarkers Prev. 14: 1666-1671 [Abstract] [Full Text]  
• Furuta, S., Jiang, X., Gu, B., Cheng, E., Chen, P.-L., Lee, W.-H. (2005). Depletion of BRCA1 impairs differentiation but enhances proliferation of mammary epithelial cells. Proc. Natl. Acad. Sci. USA 102: 9176-9181 [Abstract] [Full Text]  
• Nekhlyudov, L., Li, R., Fletcher, S. W. (2005). Information and Involvement Preferences of Women in Their 40s Before Their First Screening Mammogram. Arch Intern Med 165: 1370-1374 [Abstract] [Full Text]  
• Domchek, S M, Merillat, S L, Tigges, J, Tweed, A J, Weinar, M, Stopfer, J, Weber, B L (2005). Sex ratio skewing of offspring in families with hereditary susceptibility to breast cancer. J. Med. Genet. 42: 511-513 [Full Text]  
• Freedman, A. N., Seminara, D., Gail, M. H., Hartge, P., Colditz, G. A., Ballard-Barbash, R., Pfeiffer, R. M. (2005). Cancer Risk Prediction Models: A Workshop on Development, Evaluation, and Application. JNCI J Natl Cancer Inst 97: 715-723 [Abstract] [Full Text]  
• Woodward, A M, Davis, T A, Silva, A G S, kConFab Investigators, , Kirk, J A, Leary, J A (2005). Large genomic rearrangements of both BRCA2 and BRCA1 are a feature of the inherited breast/ovarian cancer phenotype in selected families. J. Med. Genet. 42: e31-e31 [Abstract] [Full Text]  
• Schwartz, M. D., Lerman, C., Brogan, B., Peshkin, B. N., Isaacs, C., DeMarco, T., Hughes Halbert, C., Pennanen, M., Finch, C. (2005). Utilization of BRCA1/BRCA2 Mutation Testing in Newly Diagnosed Breast Cancer Patients. Cancer Epidemiol. Biomarkers Prev. 14: 1003-1007 [Abstract] [Full Text]  
• Fackenthal, J D, Sveen, L, Gao, Q, Kohlmeir, E K, Adebamowo, C, Ogundiran, T O, Adenipekun, A A, Oyesegun, R, Campbell, O, Rotimi, C, Akang, E E U, Das, S, Olopade, O I (2005). Complete allelic analysis of BRCA1 and BRCA2 variants in young Nigerian breast cancer patients. J. Med. Genet. 42: 276-281 [Full Text]  
• Claus, E. B., Petruzella, S., Matloff, E., Carter, D. (2005). Prevalence of BRCA1 and BRCA2 Mutations in Women Diagnosed With Ductal Carcinoma In Situ. JAMA 293: 964-969 [Abstract] [Full Text]  
• Kim, S-W, Lee, C S, Fey, J V, Borgen, P I, Boyd, J (2005). Prevalence of BRCA2 mutations in a hospital based series of unselected breast cancer cases. J. Med. Genet. 42: e5-e5 [Full Text]  
• Kennedy, R. D., Quinn, J. E., Mullan, P. B., Johnston, P. G., Harkin, D. P. (2004). The Role of BRCA1 in the Cellular Response to Chemotherapy. JNCI J Natl Cancer Inst 96: 1659-1668 [Abstract] [Full Text]  
• Sifri, R., Gangadharappa, S., Acheson, L. S. (2004). Identifying and Testing for Hereditary Susceptibility to Common Cancers. CA Cancer J Clin 54: 309-326 [Abstract] [Full Text]  
• Blesa, J. R., Prieto-Ruiz, J. a., Hernandez-Yago, J. (2004). Conformation-Sensitive Gel Electrophoresis as an Ideal High-Throughput Strategy for Accurate Detection of Sequence Variations in DNA: Screening hTomm and hTimm Genes. J Biomol Screen 9: 621-624 [Abstract]  
• Osborne, C., Wilson, P., Tripathy, D. (2004). Oncogenes and Tumor Suppressor Genes in Breast Cancer: Potential Diagnostic and Therapeutic Applications. The Oncologist 9: 361-377 [Abstract] [Full Text]  
• Evans, D G R, Eccles, D M, Rahman, N, Young, K, Bulman, M, Amir, E, Shenton, A, Howell, A, Lalloo, F (2004). A new scoring system for the chances of identifying a BRCA1/2 mutation outperforms existing models including BRCAPRO. J. Med. Genet. 41: 474-480 [Abstract] [Full Text]  
• Schwartz, M. D., Lerman, C., Brogan, B., Peshkin, B. N., Hughes Halbert, C., DeMarco, T., Lawrence, W., Main, D., Finch, C., Magnant, C., Pennanen, M., Tsangaris, T., Willey, S., Isaacs, C. (2004). Impact of BRCA1/BRCA2 Counseling and Testing on Newly Diagnosed Breast Cancer Patients. JCO 22: 1823-1829 [Abstract] [Full Text]  
• Choi, D. H., Lee, M. H., Bale, A. E., Carter, D., Haffty, B. G. (2004). Incidence of BRCA1 and BRCA2 Mutations in Young Korean Breast Cancer Patients. JCO 22: 1638-1645 [Abstract] [Full Text]  
• Marroni, F, Aretini, P, D'Andrea, E, Caligo, M A, Cortesi, L, Viel, A, Ricevuto, E, Montagna, M, Cipollini, G, Ferrari, S, Santarosa, M, Bisegna, R, Bailey-Wilson, J E, Bevilacqua, G, Parmigiani, G, Presciuttini, S (2004). Evaluation of widely used models for predicting BRCA1 and BRCA2 mutations. J. Med. Genet. 41: 278-285 [Full Text]  
• Hampel, H, Sweet, K, Westman, J A, Offit, K, Eng, C (2004). Referral for cancer genetics consultation: a review and compilation of risk assessment criteria. J. Med. Genet. 41: 81-91 [Abstract] [Full Text]  
• Thull, D. L., Vogel, V. G. (2004). Recognition and Management of Hereditary Breast Cancer Syndromes. The Oncologist 9: 13-24 [Abstract] [Full Text]  
• van Asperen, C. J., Jonker, M. A., Jacobi, C. E., van Diemen-Homan, J. E. M., Bakker, E., Breuning, M. H., van Houwelingen, J. C., de Bock, G. H. (2004). Risk Estimation for Healthy Women from Breast Cancer Families: New Insights and New Strategies. Cancer Epidemiol. Biomarkers Prev. 13: 87-93 [Abstract] [Full Text]  
• Weitzel, J. N., McCaffrey, S. M., Nedelcu, R., MacDonald, D. J., Blazer, K. R., Cullinane, C. A. (2003). Effect of Genetic Cancer Risk Assessment on Surgical Decisions at Breast Cancer Diagnosis. Arch Surg 138: 1323-1328 [Abstract] [Full Text]  
• Lin, E. Y., Jones, J. G., Li, P., Zhu, L., Whitney, K. D., Muller, W. J., Pollard, J. W. (2003). Progression to Malignancy in the Polyoma Middle T Oncoprotein Mouse Breast Cancer Model Provides a Reliable Model for Human Diseases. Am. J. Pathol. 163: 2113-2126 [Abstract] [Full Text]  
• Mincey, B. A. (2003). Genetics and the Management of Women at High Risk for Breast Cancer. The Oncologist 8: 466-473 [Abstract] [Full Text]  
• Col, N. F. (2003). The Use of Gene Tests to Detect Hereditary Predisposition to Chronic Disease: Is Cost-Effectiveness Analysis Relevant?. Med Decis Making 23: 441-448 [Abstract]  
• Ozcelik, H, Knight, J A, Glendon, G, Yazici, H, Carson, N, Ainsworth, P J, Taylor, S A M, Feilotter, H, Carter, R F, Boyd, N F, Andrulis, I L (2003). Individual and family characteristics associated with protein truncating BRCA1 and BRCA2 mutations in an Ontario population based series from the Cooperative Family Registry for Breast Cancer Studies. J. Med. Genet. 40: e91-91 [Full Text]  
• Prowse, A H, Schultz, D C, Guo, S, Vanderveer, L, Dangel, J, Bove, B, Cairns, P, Daly, M, Godwin, A K (2003). Identification of a splice acceptor site mutation in p16INK4A/p14ARF within a breast cancer, melanoma, neurofibroma prone kindred. J. Med. Genet. 40: e102-102 [Full Text]  
• de la Hoya, M, Diez, O, Perez-Segura, P, Godino, J, Fernandez, J M, Sanz, J, Alonso, C, Baiget, M, Diaz-Rubio, E, Caldes, T (2003). Pre-test prediction models of BRCA1 or BRCA2 mutation in breast/ovarian families attending familial cancer clinics. J. Med. Genet. 40: 503-510 [Abstract] [Full Text]  
• Wooster, R., Weber, B. L. (2003). Breast and Ovarian Cancer. NEJM 348: 2339-2347 [Full Text]  
• Domchek, S. M., Eisen, A., Calzone, K., Stopfer, J., Blackwood, A., Weber, B. L. (2003). Application of Breast Cancer Risk Prediction Models in Clinical Practice. JCO 21: 593-601 [Abstract] [Full Text]  
• Pichert, G., Bolliger, B., Buser, K., Pagani, O. (2003). Evidence-based management options for women at increased breast/ovarian cancer risk. Ann Oncol 14: 9-19 [Abstract] [Full Text]  
• Wessels, L. F. A., van Welsem, T., Hart, A. A. M., van't Veer, L. J., Reinders, M. J. T., Nederlof, P. M. (2002). Molecular Classification of Breast Carcinomas by Comparative Genomic Hybridization: a Specific Somatic Genetic Profile for BRCA1 Tumors. Cancer Res. 62: 7110-7117 [Abstract] [Full Text]  
• Mintzer, D., Glassburn, J., Mason, B. A., Sataloff, D. (2002). Breast Cancer in the Very Young Patient: A Multidisciplinary Case Presentation. The Oncologist 7: 547-554 [Abstract] [Full Text]  
• Chen, W. Y., Garber, J. E., Higham, S., Schneider, K. A., Davis, K. B., Deffenbaugh, A. M., Frank, T. S., Gelman, R. S., Li, F. P. (2002). BRCA1/2 Genetic Testing in the Community Setting. JCO 20: 4485-4492 [Abstract] [Full Text]  
• Col, N. F., Goldberg, R. J., Orr, R. K., Erban, J. K., Fortin, J. M., Chlebowski, R. T. (2002). Survival Impact of Tamoxifen Use for Breast Cancer Risk Reduction: Projections from a Patient-Specific Markov Model. Med Decis Making 22: 386-393 [Abstract]  
• Kauff, N D, Perez-Segura, P, Robson, M E, Scheuer, L, Siegel, B, Schluger, A, Rapaport, B, Frank, T S, Nafa, K, Ellis, N A, Parmigiani, G, Offit, K (2002). Incidence of non-founder BRCA1 and BRCA2 mutations in high risk Ashkenazi breast and ovarian cancer families. J. Med. Genet. 39: 611-614 [Full Text]  
• MacDonald, D J, Choi, J, Ferrell, B, Sand, S, McCaffrey, S, Blazer, K R, Grant, M, Weitzel, J N (2002). Concerns of women presenting to a comprehensive cancer centre for genetic cancer risk assessment. J. Med. Genet. 39: 526-530 [Full Text]  
• MacLachlan, T. K., Takimoto, R., El-Deiry, W. S. (2002). BRCA1 Directs a Selective p53-Dependent Transcriptional Response towards Growth Arrest and DNA Repair Targets. Mol. Cell. Biol. 22: 4280-4292 [Abstract] [Full Text]  
• Euhus, D. M., Smith, K. C., Robinson, L., Stucky, A., Olopade, O. I., Cummings, S., Garber, J. E., Chittenden, A., Mills, G. B., Rieger, P., Esserman, L., Crawford, B., Hughes, K. S., Roche, C. A., Ganz, P. A., Seldon, J., Fabian, C. J., Klemp, J., Tomlinson, G. (2002). Pretest Prediction of BRCA1 or BRCA2 Mutation by Risk Counselors and the Computer Model BRCAPRO. JNCI J Natl Cancer Inst 94: 844-851 [Abstract] [Full Text]  
• Berry, D. A., Iversen, E. S. Jr, Gudbjartsson, D. F., Hiller, E. H., Garber, J. E., Peshkin, B. N., Lerman, C., Watson, P., Lynch, H. T., Hilsenbeck, S. G., Rubinstein, W. S., Hughes, K. S., Parmigiani, G. (2002). BRCAPRO Validation, Sensitivity of Genetic Testing of BRCA1/BRCA2, and Prevalence of Other Breast Cancer Susceptibility Genes. JCO 20: 2701-2712 [Abstract] [Full Text]  
• Grushko, T. A., Blackwood, M. A., Schumm, P. L., Hagos, F. G., Adeyanju, M. O., Feldman, M. D., Sanders, M. O., Weber, B. L., Olopade, O. I. (2002). Molecular-Cytogenetic Analysis of HER-2/neu Gene in BRCA1-associated Breast Cancers. Cancer Res. 62: 1481-1488 [Abstract] [Full Text]  
• Shih, H. A., Couch, F. J., Nathanson, K. L., Blackwood, M. A., Rebbeck, T. R., Armstrong, K. A., Calzone, K., Stopfer, J., Seal, S., Stratton, M. R., Weber, B. L. (2002). BRCA1 and BRCA2 Mutation Frequency in Women Evaluated in a Breast Cancer Risk Evaluation Clinic. JCO 20: 994-999 [Abstract] [Full Text]  
• Schwartz, M. D., Peshkin, B. N., Hughes, C., Main, D., Isaacs, C., Lerman, C. (2002). Impact of BRCA1/BRCA2 Mutation Testing on Psychologic Distress in a Clinic-Based Sample. JCO 20: 514-520 [Abstract] [Full Text]  
• Sweet, K. M., Bradley, T. L., Westman, J. A. (2002). Identification and Referral of Families at High Risk for Cancer Susceptibility. JCO 20: 528-537 [Abstract] [Full Text]  
• Eng, C., Brody, L. C, Wagner, T. M U, Devilee, P., Vijg, J., Szabo, C., Tavtigian, S. V, Nathanson, K. L, Ostrander, E., Frank, T. S (2001). Interpreting epidemiological research: blinded comparison of methods used to estimate the prevalence of inherited mutations in BRCA1. J. Med. Genet. 38: 824-833 [Abstract] [Full Text]  
• Hartmann, L. C., Sellers, T. A., Schaid, D. J., Frank, T. S., Soderberg, C. L., Sitta, D. L., Frost, M. H., Grant, C. S., Donohue, J. H., Woods, J. E., McDonnell, S. K., Vockley, C. W., Deffenbaugh, A., Couch, F. J., Jenkins, R. B. (2001). Efficacy of Bilateral Prophylactic Mastectomy in BRCA1 and BRCA2 Gene Mutation Carriers. JNCI J Natl Cancer Inst 93: 1633-1637 [Abstract] [Full Text]  
• Percesepe, A., Borghi, F., Menigatti, M., Losi, L., Foroni, M., Di Gregorio, C., Rossi, G., Pedroni, M., Sala, E., Vaccina, F., Roncucci, L., Benatti, P., Viel, A., Genuardi, M., Marra, G., Kristo, P., Peltomaki, P., Ponz de Leon, M. (2001). Molecular Screening for Hereditary Nonpolyposis Colorectal Cancer: A Prospective, Population-Based Study. JCO 19: 3944-3950 [Abstract] [Full Text]  
• Peshkin, B. N., DeMarco, T. A., Brogan, B. M., Lerman, C., Isaacs, C. (2001). BRCA1/2 Testing: Complex Themes in Result Interpretation. JCO 19: 2555-2565 [Abstract] [Full Text]  
• Martin, A.-M., Blackwood, M.A., Antin-Ozerkis, D., Shih, H.A., Calzone, K., Colligon, T.A., Seal, S., Collins, N., Stratton, M.R., Weber, B.L., Nathanson, K.L. (2001). Germline Mutations in BRCA1 and BRCA2 in Breast-Ovarian Families From a Breast Cancer Risk Evaluation Clinic. JCO 19: 2247-2253 [Abstract] [Full Text]  
• Blackshear, P. E. (2001). Genetically Engineered Rodent Models of Mammary Gland Carcinogenesis: An Overview. Toxicol Pathol 29: 105-116 [Abstract]  
• Claus, E. B (2000). Risk models in genetic epidemiology. Stat Methods Med Res 9: 589-601 [Abstract]  
• Armstrong, K., Calzone, K., Stopfer, J., Fitzgerald, G., Coyne, J., Weber, B. (2000). Factors Associated with Decisions about Clinical BRCA1/2 Testing. Cancer Epidemiol. Biomarkers Prev. 9: 1251-1254 [Abstract] [Full Text]  
• Cummings, S. (2000). The Genetic Testing Process: How Much Counseling Is Needed?. JCO 18: 60s-64 [Full Text]  
• Shih, H. A., Nathanson, K. L., Seal, S., Collins, N., Stratton, M. R., Rebbeck, T. R., Weber, B. L. (2000). BRCA1 and BRCA2 Mutations in Breast Cancer Families with Multiple Primary Cancers. Clin. Cancer Res. 6: 4259-4264 [Abstract] [Full Text]  
• Pierce, L. J., Strawderman, M., Narod, S. A., Oliviotto, I., Eisen, A., Dawson, L., Gaffney, D., Solin, L. J., Nixon, A., Garber, J., Berg, C., Isaacs, C., Heimann, R., Olopade, O. I., Haffty, B., Weber, B. L. (2000). Effect of Radiotherapy After Breast-Conserving Treatment in Women With Breast Cancer and Germline BRCA1/2 Mutations. JCO 18: 3360-3369 [Abstract] [Full Text]  
• Syrjakoski, K., Vahteristo, P., Eerola, H., Tamminen, A., Kivinummi, K., Sarantaus, L., Holli, K., Blomqvist, C., Kallioniemi, O.-P., Kainu, T., Nevanlinna, H. (2000). Population-Based Study of BRCA1 and BRCA2 Mutations in 1035 Unselected Finnish Breast Cancer Patients. JNCI J Natl Cancer Inst 92: 1529-1531 [Full Text]  
• Martin, A.-M., Weber, B. L. (2000). Genetic and Hormonal Risk Factors in Breast Cancer. JNCI J Natl Cancer Inst 92: 1126-1135 [Abstract] [Full Text]  
• Meiser, B., Butow, P., Friedlander, M., Schnieden, V., Gattas, M., Kirk, J., Suthers, G., Haan, E., Tucker, K. (2000). Intention to Undergo Prophylactic Bilateral Mastectomy in Women at Increased Risk of Developing Hereditary Breast Cancer. JCO 18: 2250-2257 [Abstract] [Full Text]  
• Eisen, A., Rebbeck, T. R., Wood, W. C., Weber, B. L. (2000). Prophylactic Surgery in Women With a Hereditary Predisposition to Breast and Ovarian Cancer. JCO 18: 1980-1995 [Abstract] [Full Text]  
• Schwartz, M. D., Hughes, C., Roth, J., Main, D., Peshkin, B. N., Isaacs, C., Kavanagh, C., Lerman, C. (2000). Spiritual Faith and Genetic Testing Decisions among High-Risk Breast Cancer Probands. Cancer Epidemiol. Biomarkers Prev. 9: 381-385 [Abstract] [Full Text]  
• Penson, R. T., Seiden, M. V., Shannon, K. M., Lubratovich, M. L., Roche, M., Chabner, B. A., Lynch, T. J. Jr. (2000). Communicating Genetic Risk: Pros, Cons, and Counsel. The Oncologist 5: 152-161 [Abstract] [Full Text]  
• Lidereau, R., Eisinger, F., Champème, M.-H., Noguès, C., Bièche, I., Birnbaum, D., Pallud, C., Jacquemier, J., Sobol, H. (2000). Major Improvement in the Efficacy of BRCA1 Mutation Screening Using Morphoclinical Features of Breast Cancer. Cancer Res. 60: 1206-1210 [Abstract] [Full Text]  
• Eccles, D M, Evans, D G R, Mackay, J (2000). Guidelines for a genetic risk based approach to advising women with a family history of breast cancer. J. Med. Genet. 37: 203-209 [Abstract] [Full Text]  
• Armstrong, K., Eisen, A., Weber, B. (2000). Assessing the Risk of Breast Cancer. NEJM 342: 564-571 [Full Text]  
• Lehman, T. A., Haffty, B. G., Carbone, C. J., Bishop, L. R., Gumbs, A. A., Krishnan, S., Shields, P. G., Modali, R., Turner, B. C. (2000). Elevated Frequency and Functional Activity of a Specific Germ-Line p53 Intron Mutation in Familial Breast Cancer. Cancer Res. 60: 1062-1069 [Abstract] [Full Text]  
• Sellers, T. A., King, R. A., Cerhan, J. R., Chen, P.-L., Grabrick, D. M., Kushi, L. H., Oetting, W. S., Vierkant, R. A., Vachon, C. M., Couch, F. J., Therneau, T. M., Olson, J. E., Pankratz, V. S., Hartmann, L. C., Anderson, V. E. (1999). Fifty-year Follow-Up of Cancer Incidence in a Historical Cohort of Minnesota Breast Cancer Families. Cancer Epidemiol. Biomarkers Prev. 8: 1051-1057 [Abstract] [Full Text]  
• Garber, J. (1999). A 40-Year-Old Woman With a Strong Family History of Breast Cancer. JAMA 282: 1953-1960 [Full Text]  
• Haber, D. A. (1999). Breast Cancer in Carriers of BRCA1 and BRCA2 Mutations: Tackling a Molecular and Clinical Conundrum. JCO 17: 3367-3370 [Full Text]  
• Turner, B. C., Harrold, E., Matloff, E., Smith, T., Gumbs, A. A., Beinfield, M., Ward, B., Skolnick, M., Glazer, P. M., Thomas, A., Haffty, B. G. (1999). BRCA1/BRCA2 Germline Mutations in Locally Recurrent Breast Cancer Patients After Lumpectomy and Radiation Therapy: Implications for Breast-Conserving Management in Patients With BRCA1/BRCA2 Mutations. JCO 17: 3017-3024 [Abstract] [Full Text]