CHEK2 contribution to hereditary breast cancer in non-BRCA families.

ABSTRACT:

Background

Mutations in the BRCA1 and BRCA2 genes are responsible for only a part of hereditary breast cancer (HBC). The origins of "non-BRCA" HBC in families may be attributed in part to rare mutations in genes conferring moderate risk, such as CHEK2, which encodes for an upstream regulator of BRCA1. Previous studies have demonstrated an association between CHEK2 founder mutations and non-BRCA HBC. However, very few data on the entire coding sequence of this gene are available.

Methods

We investigated the contribution of CHEK2 mutations to non-BRCA HBC by direct sequencing of its whole coding sequence in 507 non-BRCA HBC cases and 513 controls.

Results

We observed 16 mutations in cases and 4 in controls, including 9 missense variants of uncertain consequence. Using b

SUBMITTER: Desrichard A 

PROVIDER: S-EPMC3326561 | biostudies-literature | 2011

REPOSITORIES: biostudies-literature