Integrative analyses reveal signaling pathways underlying familial breast cancer susceptibility.

ABSTRACT: The signaling events that drive familial breast cancer (FBC) risk remain poorly understood. While the majority of genomic studies have focused on genetic risk variants, known risk variants account for at most 30% of FBC cases. Considering that multiple genes may influence FBC risk, we hypothesized that a pathway-based strategy examining different data types from multiple tissues could elucidate the biological basis for FBC. In this study, we performed integrated analyses of gene expression and exome-sequencing data from peripheral blood mononuclear cells and showed that cell adhesion pathways are significantly and consistently dysregulated in women who develop FBC. The dysregulation of cell adhesion pathways in high-risk women was also identified by pathway-based profiling applied to norma

SUBMITTER: Piccolo SR 

PROVIDER: S-EPMC4812528 | biostudies-literature | 2016 Mar

REPOSITORIES: biostudies-literature