Mutation analysis of RAD51D in non-BRCA1/2 ovarian and breast cancer families.

ABSTRACT:

Background

Recent data show that mutations in RAD51D have an aetiological role in ovarian carcinoma, yet mutations do not appear to be associated with an increased risk for breast cancer. We studied ovarian and breast cancer families having at least one woman affected by ovarian carcinoma, to assess the importance of RAD51D mutations in such families.

Methods

The coding region of the RAD51D gene was analysed in 175 BRCA1/2-negative families with family histories of both ovarian and breast cancer ascertained from two Canadian and two Belgian institutions.

Results

We identified one previously reported deleterious mutation, p.Arg186(*) (c.556C>T), and two novel variants; missense substitution p.Cys119Arg and an intronic variant c.83-26A>G. p.Arg186(*) segregated with the

SUBMITTER: Osher DJ 

PROVIDER: S-EPMC3326673 | biostudies-literature | 2012 Apr

REPOSITORIES: biostudies-literature