The 5p12 breast cancer susceptibility locus affects MRPS30 expression in estrogen-receptor positive tumors.

ABSTRACT: Genome-wide association studies have identified numerous loci linked to breast cancer susceptibility, but the mechanism by which variations at these loci influence susceptibility is usually unknown. Some variants are only associated with particular clinical subtypes of breast cancer. Understanding how and why these variants influence subtype-specific cancer risk contributes to our understanding of cancer etiology. We conducted a genome-wide expression Quantitative Trait Locus (eQTL) study in a discovery set of 287 breast tumors and 97 normal mammary tissue samples and a replication set of 235 breast tumors. We found that the risk-associated allele of rs7716600 in the 5p12 estrogen receptor-positive (ER-positive) susceptibility locus was associated with elevated expression of the nearby gen

SUBMITTER: Quigley DA 

PROVIDER: S-EPMC3964809 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature