Functional annotation of breast cancer risk loci: current progress and future directions.

ABSTRACT: Genome-wide association studies coupled with large-scale replication and fine-scale mapping studies have identified more than 150 genomic regions that are associated with breast cancer risk. Here, we review efforts to translate these findings into a greater understanding of disease mechanism. Our review comes in the context of a recently published fine-scale mapping analysis of these regions, which reported 352 independent signals and a total of 13,367 credible causal variants. The vast majority of credible causal variants map to noncoding DNA, implicating regulation of gene expression as the mechanism by which functional variants influence risk. Accordingly, we review methods for defining candidate-regulatory sequences, methods for identifying putative target genes and methods for linking

SUBMITTER: Romualdo Cardoso S 

PROVIDER: S-EPMC8980003 | biostudies-literature | 2022 Apr

REPOSITORIES: biostudies-literature