Genetic modifiers of CHEK2*1100delC-associated breast cancer risk.

ABSTRACT:

Purpose

CHEK2*1100delC is a founder variant in European populations that confers a two- to threefold increased risk of breast cancer (BC). Epidemiologic and family studies have suggested that the risk associated with CHEK2*1100delC is modified by other genetic factors in a multiplicative fashion. We have investigated this empirically using data from the Breast Cancer Association Consortium (BCAC).

Methods

Using genotype data from 39,139 (624 1100delC carriers) BC patients and 40,063 (224) healthy controls from 32 BCAC studies, we analyzed the combined risk effects of CHEK2*1100delC and 77 common variants in terms of a polygenic risk score (PRS) and pairwise interaction.

Results

The PRS conferred odds ratios (OR) of 1.59 (95% CI: 1.21-2.09) per standard deviation for B

SUBMITTER: Muranen TA 

PROVIDER: S-EPMC5382131 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature