Exploring the link between germline and somatic genetic alterations in breast carcinogenesis.

ABSTRACT: Recent genome-wide association studies (GWASs) have identified candidate genes contributing to cancer risk through low-penetrance mutations. Many of these genes were unexpected and, intriguingly, included well-known players in carcinogenesis at the somatic level. To assess the hypothesis of a germline-somatic link in carcinogenesis, we evaluated the distribution of somatic gene labels within the ordered results of a breast cancer risk GWAS. This analysis suggested frequent influence on risk of genetic variation in loci encoding for "driver kinases" (i.e., kinases encoded by genes that showed higher somatic mutation rates than expected by chance and, therefore, whose deregulation may contribute to cancer development and/or progression). Assessment of these predictions using a population-bas

SUBMITTER: Bonifaci N 

PROVIDER: S-EPMC2989917 | biostudies-literature | 2010 Nov

REPOSITORIES: biostudies-literature