The DOI matches its Crossref record; 42 of the 42 references it cites were found in a registry or an index.
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
Open accessAbstract
Although well studied in families at high-risk, the roles of mutations in the BRCA1 and BRCA2 genes are poorly understood in breast cancers in the general population, particularly in Black women and in age groups outside of the very young. We examined the prevalence and predictors of BRCA1 and BRCA2 mutations in 1,628 women with breast cancer and 674 women without breast cancer who participated in a multicenter population-based case-control study of Black and White women, 35 to 64 years of age. Among cases, 2.4% and 2.3% carried deleterious mutations in BRCA1 and BRCA2, respectively. BRCA1 mutations were significantly more common in White (2.9%) versus Black (1.4%) cases and in Jewish (10.2%) versus non-Jewish (2.0%) cases; BRCA2 mutations were slightly more frequent in Black (2.6%) versus White (2.1%) cases. Numerous familial and demographic factors were significantly associated with BRCA1 and, to a lesser extent, BRCA2 carrier status, when examined individually. In models considering all predictors together, early onset ages in cases and in relatives, family history of ovarian cancer, and Jewish ancestry remained strongly and significantly predictive of BRCA1 carrier status, whereas BRCA2 predictors were fewer and more modest in magnitude. Both the combinations of predictors and effect sizes varied across racial/ethnic and age groups. These results provide first-time prevalence estimates for BRCA1/BRCA2 in breast cancer cases among understudied racial and age groups and show key predictors of mutation carrier status for both White and Black women and women of a wide age spectrum with breast cancer in the general population. (Cancer Res 2006; 66(16): 8297-308)
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Antoniou, A., Pharoah, P. D. P., Narod, S., Risch, H. A., Eyfjord, J. E., Hopper, J. L., Loman, N., Olsson, H., Johannsson, O., Borg, Å., et al. (2003) · The American Journal of Human Genetics · doi:10.1086/375033 · Cited by 3,680
Genetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer Families
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The Risk of Cancer Associated with Specific Mutations of BRCA1 and BRCA2 among Ashkenazi Jews
Struewing, J. P., Hartge, P., Wacholder, S., Baker, S. M., Berlin, M., McAdams, M., Timmerman, M. M., Brody, L. C., & Tucker, M. A. (1997) · New England Journal of Medicine · doi:10.1056/nejm199705153362001 · Cited by 2,281
Breast and Ovarian Cancer Risks Due to Inherited Mutations in BRCA1 and BRCA2
King, M.-C., Marks, J. H., & Mandell, J. B. (2003) · Science · doi:10.1126/science.1088759 · Cited by 2,229
Elmore, J. G. (2005) · JAMA · doi:10.1001/jama.293.10.1245 · Cited by 1,075
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Prevalence of BRCA1 and BRCA2 Gene Mutations in Patients With Early-Onset Breast Cancer
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Determining Carrier Probabilities for Breast Cancer–Susceptibility Genes BRCA1 and BRCA2
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BRCA1 Mutations in Women Attending Clinics That Evaluate the Risk of Breast Cancer
Couch, F. J., DeShano, M. L., Blackwood, M. A., Calzone, K., Stopfer, J., Campeau, L., Ganguly, A., Rebbeck, T., Weber, B. L., Jablon, L., et al. (1997) · New England Journal of Medicine · doi:10.1056/nejm199705153362002 · Cited by 685
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Olaparib for Metastatic Breast Cancer in Patients with a Germline BRCA Mutation
Robson, M., Im, S.-A., Senkus, E., Xu, B., Domchek, S. M., Masuda, N., Delaloge, S., Li, W., Tung, N., Armstrong, A., et al. (2017) · New England Journal of Medicine · doi:10.1056/nejmoa1706450 · Cited by 3,294
HRDetect is a predictor of BRCA1 and BRCA2 deficiency based on mutational signatures
Davies, H., Glodzik, D., Morganella, S., Yates, L. R., Staaf, J., Zou, X., Ramakrishna, M., Martin, S., Boyault, S., Sieuwerts, A. M., et al. (2017) · Nature Medicine · doi:10.1038/nm.4292 · Cited by 1,086
Robson, M. E., Tung, N., Conte, P., Im, S.-A., Senkus, E., Xu, B., Masuda, N., Delaloge, S., Li, W., Armstrong, A., et al. (2019) · Annals of Oncology · doi:10.1093/annonc/mdz012 · Cited by 779
Health and Racial Disparity in Breast Cancer
Yedjou, C. G., Sims, J. N., Miele, L., Noubissi, F., Lowe, L., Fonseca, D. D., Alo, R. A., Payton, M., & Tchounwou, P. B. (2019) · Advances in Experimental Medicine and Biology · doi:10.1007/978-3-030-20301-6_3 · Cited by 509
Tung, N. M., Robson, M. E., Ventz, S., Santa-Maria, C. A., Nanda, R., Marcom, P. K., Shah, P. D., Ballinger, T. J., Yang, E. S., Vinayak, S., et al. (2020) · Journal of Clinical Oncology · doi:10.1200/jco.20.02151 · Cited by 508
Metadata
- Authors
- 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.
- Venue
- Cancer Research
- Published
- 2006-08-15
- Volume
- 66
- Issue
- 16
- Pages
- 8297-8308
- ISSN
- 0008-5472 (ISSN-L)
- 1538-7445
- OpenAlex
- W2139269097
- Cited by
- 373
- References
- 42
- FWCI
- 7.42
- Type
- journal article
- Language
- en
- Open access
- bronze
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- 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., . . . 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 Research. https://doi.org/10.1158/0008-5472.can-06-0503
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.