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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.

Original publication




Journal article


Human molecular genetics

Publication Date





2612 - 2620


Program in Genetic Epidemiology and Statistical Genetics, Department of Epidemiology, Harvard TH Chan School of Public Health, Boston, MA 02115, USA.


Australian National Endometrial Cancer Study Group (ANECS), National Study Of Endometrial Cancer Genetics Group (NSECG), Chromosomes, Human, Pair 6, Humans, Endometrial Neoplasms, Genetic Predisposition to Disease, Genotype, Polymorphism, Single Nucleotide, European Continental Ancestry Group, Female, Genome-Wide Association Study