GWAS Meets TCGA to Illuminate Mechanisms of Cancer Predisposition

Menée sur des données d'expression génique issues du projet "The Cancer Genome Atlas", cette étude met en œuvre une méthode d'analyse de liaison génétique dite eQTL pour identifier des gènes candidats dans 6 loci de susceptibilité au cancer du sein

Résumé en anglais

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.