A candidate gene approach to searching for low-penetrance breast and prostate cancer genes

摘要

Abstract | Most cases of breast and prostate cancer are not associated with mutations in known high-penetrance genes, indicating the involvement of multiple low-penetrance risk alleles. Studies that have attempted to identify these genes have met with limited success. The National Cancer Institute Breast and Prostate Cancer Cohort Consortium - a pooled analysis of multiple large cohort studies with a total of more than 5,000 cases of breast cancer and 8,000 cases of prostate cancer - was therefore initiated. The goal of this consortium is to characterize variations in approximately 50 genes that mediate two pathways that are associated with these cancers - the steroid-hormone metabolism pathway and the insulin-like growth factor signalling pathway - and to associate these variations with cancer risk.