The DOI matches its Crossref record; 25 of the 25 references it cites were found in a registry or an index.
Prevalence of BRCA1 and BRCA2 Gene Mutations in Patients With Early-Onset Breast Cancer
Abstract
BACKGROUND: Mutations in the BRCA1 and BRCA2 genes are found in most families with cases of both breast and ovarian cancer or with many cases of early-onset breast cancer. However, in an outbred population, the prevalence of BRCA1 and BRCA2 mutations in patients with breast cancer who were unselected for a family history of this disease has not been determined. METHODS: Mutations in the BRCA1 and BRCA2 genes were detected in blood samples from two population-based series of young patients with breast cancer from Britain. RESULTS: Mutations were detected in 15 (5.9%) of 254 women diagnosed with breast cancer before age 36 years (nine [3.5%] in BRCA1 and six [2.4%] in BRCA2) and in 15 (4.1%) of 363 women diagnosed from ages 36 through 45 years (seven [1.9%] in BRCA1 and eight [2.2%] in BRCA2). Eleven percent (six of 55) of patients with a first-degree relative who developed ovarian cancer or breast cancer by age 60 years were mutation carriers, compared with 45% (five of 11) of patients with two or more affected first- or second-degree relatives. The standardized incidence ratio for breast cancer in mothers and sisters was 365 (five observed and 1.37 expected) for 30 mutation carriers and 199 (64 observed and 32.13 expected) for 587 noncarriers. If we assume recent penetrance estimates, the respective proportions of BRCA1 and BRCA2 mutation carriers are 3.1% and 3.0%, respectively, of patients with breast cancer who are younger than age 50 years, 0.49% and 0.84% of patients with breast cancer who are age 50 years or older, and 0.11% and 0.12% of women in the general population. CONCLUSIONS: Mutations in the BRCA1 and BRCA2 genes make approximately equal contributions to early-onset breast cancer in Britain and account for a small proportion of the familial risk of breast cancer.
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A Strong Candidate for the Breast and Ovarian Cancer Susceptibility Gene BRCA1
Miki, Y., Swensen, J., Shattuck-Eidens, D., Futreal, P. A., Harshman, K., Tavtigian, S., Liu, Q., Cochran, C., Bennett, L. M., Ding, W., et al. (1994) · Science · doi:10.1126/science.7545954 · Cited by 6,071
The American Journal of Human Genetics
S., J. (1950) · Population (French Edition) · doi:10.2307/1523704 · Cited by 5,028
Identification of the breast cancer susceptibility gene BRCA2
Wooster, R., Bignell, G., Lancaster, J., Swift, S., Seal, S., Mangion, J., Collins, N., Gregory, S., Gumbs, C., Micklem, G., et al. (1995) · Nature · doi:10.1038/378789a0 · Cited by 3,645
Self-citationGenetic Heterogeneity and Penetrance Analysis of the BRCA1 and BRCA2 Genes in Breast Cancer Families
Ford, D., Easton, D. F., Stratton, M., Narod, S., Goldgar, D., Devilee, P., Bishop, D. T., Weber, B., Lenoir, G., Chang-Claude, J., et al. (1998) · The American Journal of Human Genetics · doi:10.1086/301749 · Cited by 3,037
Self-citationLinkage of Early-Onset Familial Breast Cancer to Chromosome 17q21
Hall, J. M., Lee, M. K., Newman, B., Morrow, J. E., Anderson, L. A., Huey, B., & King, M.-C. (1990) · Science · doi:10.1126/science.2270482 · Cited by 2,550
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
Localization of a Breast Cancer Susceptibility Gene, BRCA2 , to Chromosome 13q12-13
Wooster, R., Neuhausen, S. L., Mangion, J., Quirk, Y., Ford, D., Collins, N., Nguyen, K., Seal, S., Tran, T., Averill, D., et al. (1994) · Science · doi:10.1126/science.8091231 · Cited by 1,924
Self-citationRisks of cancer in BRCA1-mutation carriers
FORD, D. (1994) · The Lancet · doi:10.1016/s0140-6736(94)91578-4 · Cited by 1,850
Ganguly, A., Rock, M. J., & Prockop, D. J. (1993) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.90.21.10325 · Cited by 674
Stratton, M. R. (1997) · The Lancet · doi:10.1016/s0140-6736(96)10109-4 · Cited by 579
Self-citation
Research works printed but not linked: 3
- Johannesdottir, 1996, Cancer Research, 56, 3663
- Thorlacius, 1997, American journal of human genetics, 60, 1079
- 1990, Lancet, 335, 1507, 10.1016/0140-6736(90)93038-Q · doi:10.1016/0140-6736(90)93038-q
Cited by
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
Self-citationA breast cancer prediction model incorporating familial and personal risk factors
Tyrer, J., Duffy, S. W., & Cuzick, J. (2004) · Statistics in Medicine · doi:10.1002/sim.1668 · Cited by 1,345
The CHEK2-Breast Cancer Consortium (2002) · Nature Genetics · doi:10.1038/ng879 · Cited by 1,104
The emerging landscape of breast cancer susceptibility
Stratton, M. R., & Rahman, N. (2008) · Nature Genetics · doi:10.1038/ng.2007.53 · Cited by 487
Self-citationVery young women (<35 years) with operable breast cancer: features of disease at presentation
Colleoni, M., Rotmensz, N., Robertson, C., Orlando, L., Viale, G., Renne, G., Luini, A., Veronesi, P., Intra, M., Orecchia, R., et al. (2002) · Annals of Oncology · doi:10.1093/annonc/mdf039 · Cited by 371
Metadata
- Authors
- Peto, J., Collins, N., Barfoot, R., Seal, S., Warren, W., Rahman, N., Easton, D. F., Evans, C., Deacon, J., & Stratton, M. R.
- Venue
- JNCI Journal of the National Cancer Institute
- Publisher
- Oxford University Press (OUP)
- Published
- 1999-06-02
- Volume
- 91
- Issue
- 11
- Pages
- 943-949
- ISSN
- 0027-8874 (ISSN-L)
- 1460-2105
- OpenAlex
- W2097026108
- Cited by
- 873
- References
- 25
- FWCI
- 29.89
- Type
- journal article
- Language
- en
- Open access
- closed
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