Rare coding variants and breast cancer risk: evaluation of susceptibility Loci identified in genome-wide association studies.

ABSTRACT:

Background

To date, common genetic variants in approximately 70 loci have been identified for breast cancer via genome-wide association studies (GWAS). It is unknown whether rare variants in these loci are also associated with breast cancer risk.

Methods

We investigated rare missense/nonsense variants with minor allele frequency (MAF) ≤5% located in flanking 500 kb of each of the index single-nucleotide polymorphism (SNP) in 67 GWAS loci. Included in the study were 3,472 cases and 3,595 controls from the Shanghai Breast Cancer Study. Both single marker and gene-based analyses were conducted to investigate the associations.

Results

Single marker analyses identified 38 missense variants being associated with breast cancer risk at P < 0.05 after adjusting for the index S

SUBMITTER: Zhang Y 

PROVIDER: S-EPMC3976694 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature