Loss of function germline mutations in RAD51D in women with ovarian carcinoma.

ABSTRACT:

Objective

RAD51D, a gene in the Fanconi Anemia-BRCA homologous recombination pathway, has recently been shown to harbor germline mutations responsible for ovarian carcinoma in multiply affected families. We aimed to extend these results to ovarian carcinoma in the general population.

Methods

We sequenced RAD51D in germline DNA from 360 individuals with primary ovarian, peritoneal or fallopian tube carcinoma who were not selected for age of cancer onset or family history. We also sequenced RAD51D in 459 probands from 226 high risk breast cancer families who were wild type for 21 breast and ovarian cancer genes.

Results

Of 360 cases, three (0.8%) carried loss-of-function mutations in RAD51D. All three subjects had ovarian carcinoma; one was also diagnosed with a synchro

SUBMITTER: Wickramanayake A 

PROVIDER: S-EPMC3905744 | biostudies-literature | 2012 Dec

REPOSITORIES: biostudies-literature