GWAS meets TCGA to illuminate mechanisms of cancer predisposition

Research output: Contribution to journalShort survey

34 Scopus citations

Abstract

Genome-wide association studies (GWASs) have unraveled a large number of cancer risk alleles. Understanding how these allelic variants predispose to disease is a major bottleneck confronting translational application. In this issue, Li and colleagues combine GWASs with The Cancer Genome Atlas (TCGA) to disambiguate the contributions of germline and somatic variants to tumorigenic gene expression programs. They find that close to half of the known risk alleles for estrogen receptor (ER)-positive breast cancer are expression quantitative trait loci (eQTLs) acting upon major determinants of gene expression in tumors.

Original languageEnglish (US)
Pages (from-to)387-389
Number of pages3
JournalCell
Volume152
Issue number3
DOIs
StatePublished - Jan 31 2013

ASJC Scopus subject areas

  • Biochemistry, Genetics and Molecular Biology(all)

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