A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer.

ABSTRACT:

Background

RAD51D and RAD54L are involved in homologous recombination, and rare mutations in RAD51D were recently found in breast-ovarian cancer families. This study investigated RAD51D and RAD54L for mutations in breast and ovarian cancer patients in the Finnish population.

Methods

The study sequenced the RAD51D and RAD54L genes in 95 breast and/or ovarian cancer families and genotyped the identified mutation in an additional 2200 breast and 553 ovarian cancer patients and 2102 population controls. To investigate the role of the mutation in other common cancers, 1094 prostate and 980 colorectal cancer patients were genotyped.

Results

In the screening of RAD51D, one deleterious founder mutation c.576+1G>A was identified in two breast-ovarian cancer families. No mutati

SUBMITTER: Pelttari LM 

PROVIDER: S-EPMC5426530 | biostudies-literature | 2012 Jul

REPOSITORIES: biostudies-literature