Linkage disequilibrium mapping of CHEK2: common variation and breast cancer risk.

ABSTRACT:

Background

Checkpoint kinase 2 (CHEK2) averts cancer development by promoting cell cycle arrest and activating DNA repair in genetically damaged cells. Previous investigation has established a role for the CHEK2 gene in breast cancer aetiology, but studies have largely been limited to the rare 1100delC mutation. Whether common polymorphisms in this gene influence breast cancer risk remains unknown. In this study, we aimed to assess the importance of common CHEK2 variants on population risk for breast cancer by capturing the majority of diversity in the gene using haplotype tagging single nucleotide polymorphisms (tagSNPs).

Methods and findings

We analyzed 14 common SNPs spanning 52 kilobases (kb) of the CHEK2 gene in 92 Swedish women. Coverage evaluation indicated that these

SUBMITTER: Einarsdottir K 

PROVIDER: S-EPMC1457009 | biostudies-literature | 2006 Jun

REPOSITORIES: biostudies-literature