We found a match
Your institution may have access to this item. Find your institution then sign in to continue.
- Title
Prevalence of BRCA1 and BRCA2 gene mutations in patients with early-onset breast cancer.
- Authors
Peto, Julian; Collins, Nadine; Barfoot, Rita; Seal, Sheila; Warren, William; Rahman, Nazneen; Easton, Douglas F.; Evans, Christopher; Deacon, Judith; Stratton, Michael R.; Peto, J; Collins, N; Barfoot, R; Seal, S; Warren, W; Rahman, N; Easton, D F; Evans, C; Deacon, J; Stratton, M R
- Abstract
<bold>Background: </bold>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.<bold>Methods: </bold>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.<bold>Results: </bold>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.<bold>Conclusions: </bold>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.
- Subjects
UNITED Kingdom; BREAST cancer patients; GENETIC mutation; BREAST tumors; COMPARATIVE studies; DISEASE susceptibility; RESEARCH methodology; MEDICAL cooperation; ONCOGENES; PUBLIC health surveillance; RESEARCH; EVALUATION research; BRCA genes; RELATIVE medical risk; DISEASE incidence; DISEASE prevalence; CASE-control method
- Publication
JNCI: Journal of the National Cancer Institute, 1999, Vol 91, Issue 11, p943
- ISSN
0027-8874
- Publication type
journal article
- DOI
10.1093/jnci/91.11.943