Evaluation of functional genetic variants at 6q25.1 and risk of breast cancer in a Chinese population.

ABSTRACT:

Introduction

Single-nucleotide polymorphisms (SNPs) at 6q25.1 that are associated with breast cancer susceptibility have been identified in several genome-wide association studies (GWASs). However, the exact causal variants in this region have not been clarified.

Methods

In the present study, we genotyped six potentially functional single-nucleotide polymorphisms (SNPs) within the CCDC170 and ESR1 gene regions at 6q25.1 and accessed their associations with risk of breast cancer in a study of 1,064 cases and 1,073 cancer-free controls in Chinese women. The biological function of the risk variant was further evaluated by performing laboratory experiments.

Results

Breast cancer risk was significantly associated with three SNPs located at 6q25.1-rs9383935 in CCDC170 and r

SUBMITTER: Wang Y 

PROVIDER: S-EPMC4303231 | biostudies-literature | 2014 Aug

REPOSITORIES: biostudies-literature