Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer.

ABSTRACT:

Importance

Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists.

Objective

To identify mutation-specific cancer risks for carriers of BRCA1/2.

Design, setting, and participants

Observational study of women who were ascertained between 1937 and 2011 (median, 1999) and found to carry disease-associated BRCA1 or BRCA2 mutations. The international sample comprised 19,581 carriers of BRCA1 mutations and 11,900 carriers of BRCA2 mutations from 55 centers in 33 countries on 6 continents. We estimated hazard ratios for breast and ovarian cancer based on mutation type, function, and nucleotide position. We also estimated RHR, the ratio of breast vs ovarian cancer hazard ratios. A value of RHR greater than 1 in

SUBMITTER: Rebbeck TR 

PROVIDER: S-EPMC4537700 | biostudies-literature | 2015 Apr

REPOSITORIES: biostudies-literature