GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer.
Chen MM., O'Mara TA., Thompson DJ., Painter JN., Australian National Endometrial Cancer Study Group (ANECS) None., Attia J., Black A., Brinton L., Chanock S., Chen C., Cheng TH., Cook LS., Crous-Bou M., Doherty J., Friedenreich CM., Garcia-Closas M., Gaudet MM., Gorman M., Haiman C., Hankinson SE., Hartge P., Henderson BE., Hodgson S., Holliday EG., Horn-Ross PL., Hunter DJ., Le Marchand L., Liang X., Lissowska J., Long J., Lu L., Magliocco AM., Martin L., McEvoy M., National Study Of Endometrial Cancer Genetics Group (NSECG) None., Olson SH., Orlow I., Pooler L., Prescott J., Rastogi R., Rebbeck TR., Risch H., Sacerdote C., Schumacher F., Wendy Setiawan V., Scott RJ., Sheng X., Shu X-O., Turman C., Van Den Berg D., Wang Z., Weiss NS., Wentzensen N., Xia L., Xiang Y-B., Yang HP., Yu H., Zheng W., Pharoah PDP., Dunning AM., Tomlinson I., Easton DF., Kraft P., Spurdle AB., De Vivo I.
Endometrial cancer is the most common gynecological malignancy in the developed world. Although there is evidence of genetic predisposition to the disease, most of the genetic risk remains unexplained. We present the meta-analysis results of four genome-wide association studies (4907 cases and 11 945 controls total) in women of European ancestry. We describe one new locus reaching genome-wide significance (P < 5 × 10 -8) at 6p22.3 (rs1740828; P = 2.29 × 10 -8, OR = 1.20), providing evidence of an additional region of interest for genetic susceptibility to endometrial cancer.