Risks of cancer in BRCA1-mutation carriers

摘要: Germline mutations in a gene on chromosome 17q known as BRCA1 are responsible for large proportion of inherited predispositions to breast and ovarian cancer. In 33 families with evidence linkage BRCA1, we estimated the risks cancer from occurrence second cancers individuals cancer, examined other carriers. 26 contralateral primary occurring more than 3 years after first were observed before age 70, giving an cumulative risk carriers 87% by 70.23 occurred women previous resulting 44% 70.87 or their first-degree relatives compared 69.3 expected, based national incidence rates. Significant excesses colon (estimated relative [RR] 4.11 [95% CI 2.36-7.15]) prostate (3.33 [1.78-6.20]). No significant (or deficits) noted sites. Our study provides estimates which useful counselling BRCA1-mutation It also shows that at increased may be clinical significance certain if associated specific mutations.