Table 1.

Genetic risk regions and candidate target genes identified by endometrial cancer genetic association studies to date

Risk locusOther relevant traits identified by GWAS at this locusaCandidate target/closestgenebEvidence for targetingInvolvement in relevant pathways from network analysisStudies reporting endometrial cancer risk association
1p34.3Cancer: ovarianCDCA8eQTL (24)-(24)
2p16.1Cancer: Hodgkin's lymphomaBCL11A--(24)
6q22.3Cancer: melanoma, neuroblastomaSOX4, CASC15--(14, 24)
Anthropometric: height, BMI
Steroid hormone–related: bone mineral density
6q22.31Cancer: bladderHEY2Bioinformatic prediction (15)Notch signaling(14, 15, 24)
Anthropometric: height, hip circumferenceNCOA7Bioinformatic prediction (15)Endometrial cancer signaling
Steroid hormone–related: Age of menarche
8q24.21Cancer: acute lymphoblastic leukemia, breast, diffuse large B-cell lymphoma, follicular lymphoma, glioma, Hodgkin's lymphoma, ovarian, pancreaticMIR1204Bioinformatic prediction (15)-(15, 24)
Anthropometric: heightMIR1205Bioinformatic prediction (15)-
MIR1207Bioinformatic prediction (15)-
MIR1208Bioinformatic prediction (15)-
MYCChromatin looping; bioinformaticMolecular mechanisms of cancer
prediction (15)Wnt/β-catenin signaling
Estrogen-mediated S-phase entry
G1–S checkpoint regulation
9p21.3Cancer: acute lymphoblastic leukemia, breast, chronic lymphocytic leukemia, glioma, glioblastoma, lung, melanoma, multiple myeloma, nasopharyngeal, oral cavity, prostateCDKN2A/B--(24)
Anthropometric: BMI
Endometriosis
11p13Anthropometric: BMI, waist–hip ratioCCDC73eQTL (24)-(24)
EIF3MeQTL (24)EIF2 signaling
RCN1eQTL (24)-
TCP11L1eQTL (24)-
WT1-ASeQTL (24)-
12p12.1Cancer: esophageal, renal cellSSPN--(24)
Anthropometric: waist–hip ratio
12q24.12Cancer: breast, colorectal, esophagealSH2B3eQTL (24)-(24)
Anthropometric: BMI
12q24.21Cancer: esophageal, laryngeal squamous cell, pancreatic, prostateSNORA27--(24)
Steroid hormone–related: mammographic density
13q22.1Cancer: breast, chronic lymphocytic leukemia, pancreatic, prostateKLF5Functional analyses; bioinformaticAdipogenesis pathway(14, 15, 24)
Steroid hormone-related: age of menarcheprediction (15)
15q15.1Cancer: Ewing sarcomaBMFBioinformatic prediction (15)-(15, 24)
Anthropometric: BMI, heightGPR176Bioinformatic prediction (15)-
Steroid hormone–related: age of menopauseSRP14-AS1Bioinformatic prediction (15)-
SRP14Bioinformatic prediction (15)-
15q21.2Anthropometric: BMI, heightCYP19A1eQTL and association with estradiolEstrogen-dependent breast cancer(15, 17, 24)
Steroid hormone–related: bone mineral density, estradiol levels, follicle-stimulating hormonelevels (17)signaling
17q11.2Cancer: breast, prostateEVI2AeQTL (24)-(24)
Anthropometric: BMI, height, hip circumference, waist circumferenceNF1eQTL (24)Molecular mechanisms of cancer
SUZ12eQTL (24)-
17q12Cancer: ovarian, pancreatic, prostate, testicular germ cellHNF1BFunctional analyses; eQTL (16)Pigment epithelium-derived factor(14–16, 19, 24)
Anthropometric: BMI, height(PEDF) signaling
17q21.32Cancer: ovarianSNX11eQTL (24)-(24)
Anthropometric: body fat percentage, BMI, height, obesity