Genetic architecture of cancer and other complex diseases: lessons learned and future directions.

ABSTRACT: Genome-wide association studies have broadened our understanding of the genetic architecture of cancer to include common variants, in addition to the rare variants previously identified by linkage analysis. We review current knowledge on the genetic architecture of four cancers--breast, lung, prostate and colorectal--for which the balance of common and rare alleles identified ranges from fewer common alleles (lung cancer) to more common alleles (prostate cancer). Although most variants are cancer specific, pleiotropy has been observed for several variants, for example, variants at the 8q24 locus and breast, ovarian and prostate cancers or variants in KITLG in relation to hair color and testicular cancer. Although few studies have been adequately powered to investigate heterogeneity among a

SUBMITTER: Hindorff LA 

PROVIDER: S-EPMC3140138 | biostudies-literature | 2011 Jul

REPOSITORIES: biostudies-literature