Table 1

List of top SNPs most likely to contribute to endometrial cancer risk identified through systematic review of recent literature21–25

ReferenceSNP IDNearby gene(s)LocationORLCIUCIPEAFEAOAEthnicityCases (n)Controls (n)EC typePositionDatasets*
O'Mara et al, 201821 rs11263761HNF1B17q121.151.121.193.20e-200.52AGEUR12 906108 979AllIntronic NSECG, UK1-CORGI, SEARCH, WTCCC, ANECS, QIMR, HCS, E2C2, BECS/HJECS, iCOGS† (BBCC, BSUCH, ESTHER, GC-HBOC, GENICA, MARIE, MoMaTEC, NBCS, BBCS, SBCS, UKBGS), NECS, ABCFS, ABCTB, BCEES, MCCS, LES, LMBC, BECS, GESBC, HaBCS, CAHRES, RENDOCAS, MISS, pKARMA, SMC, CBR_STUDY98, MECS, MCBCS, MMHS, WHI, UKBB
rs7981863KLF5, KLF1213q22.11.161.121.202.70e-170.72CTEUR12 906108 979AllIntergenic
rs1740828SOX46p22.31.151.111.194.20e-160.52GAEUR12 906108 979AllRegulatory region
rs17601876CYP19A115q21.21.121.091.163.30e-140.48GAEUR12 906108 979AllIntronic
rs4733613MYC8q24.211.181.131.247.50e-140.12CGEUR12 906108 979AllIntergenic
rs3184504SH2B312q24.111.101.071.141.10e-100.52CTEUR12 906108 979AllMissense
rs2747716HEY2, NCOA7, MYC6q22.311.101.071.142.90e-100.57AGEUR12 906108 979AllIntronic
rs9668337SSPN12p12.11.111.081.151.10e-090.74AGEUR12 906108 979AllNon-coding exon
rs35286446MYC8q24.211.101.061.133.10e-090.58GATGEUR12 906108 979AllIntronic
rs10850382LOC10798443712q24.211.101.071.143.50e-090.31TCEUR12 906108 979AllRegulatory region
rs882380SKAP, SNX1117q21.321.101.061.134.70e-090.61ACEUR12 906108 979AllIntronic
rs937213EIF2AK4, BMF15q15.11.091.061.135.10e-090.42CTEUR12 906108 979AllIntronic
rs1679014CDKN2A, CDKN2B9p21.31.181.121.256.40e-090.07TCEUR12 906108 979AllIntronic
Painter et al, 201622 rs2498794AKT114q32.331.131.091.178.70e-090.48GAEUR773737 144AllIntronic ANECS, SEARCH, NSECG, iCOGS
O'Mara et al, 201821 rs10835920WT1, WT1-AS, EIF3M11p131.091.061.131.30e-080.38TCEUR12 906108 979AllIntergenic NSECG, UK1-CORGI, SEARCH, WTCCC, ANECS, QIMR, HCS, E2C2, BECS/HJECS, iCOGS, BBCC, BSUCH, ESTHER, GC-HBOC, GENICA, MARIE, MoMaTEC, NBCS, BBCS, SBCS, UKBGS, NECS, ABCFS, ABCTB, BCEES, MCCS, LES, LMBC, BECS, GESBC, HaBCS, CAHRES, RENDOCAS, MISS, pKARMA, SMC, CBR_STUDY98, MECS, MCBCS, MMHS, WHI, UKBB
rs139584729MYC8q24.211.401.251.582.40e-080.98CGEUR12 906108 979AllIntergenic
rs148261157BCL11A2p16.11.261.161.363.40e-080.03AGEUR12 906108 979AllIntergenic
1.251.141.384.70e-060.03875846 126Endometrioid
1.641.322.049.60e-060.03123035 447Non-endometrioid
rs113998067GNL2, RSPO1, CDCA81p34.31.231.141.323.60e-080.04CTEUR12 906108 979AllIntergenic
rs1129506EVI2A, NF117q11.21.101.061.134.30e-080.38GAEUR12 906108 979AllMissense
Spurdle et al, 201123 rs673604SFPQ1p341.211.121.325.90e-060.08GAEUR12655190AllRegulatory region ANECS, NECS, SEARCH, WTCCC2, BECS, LES, MoMaTEC, NSECG, PECS, SASBAC, SECGS
O'Mara et al, 201524 rs79575945ESR16q251.201.111.303.76e-060.07GAEUR660737 925EndometrioidIntronic iCOGS, BCAC, OCAC, ANECS, SEARCH, NSECG
Chen et al, 201425 rs1953358LINC0052014q22.31.361.201.534.76e-070.49GAME10551778EndometrioidIntergenicAHS, EDGE, FHCRC, MEC
rs8178648PROS1chr31.711.372.121.53e-060.09GAME10551778EndometrioidIntronic
rs9399840N/A6q16.31.331.181.493.01e-060.53TCME10551778EndometrioidIntergenic
  • The different studies listed here used overlapping datasets (in bold).

  • All locations were based on Genome Reference Consortium Human Build 37 (GRCh37). Variants located at 8q24.21 were obtained from a conditional model

  • *NSECG: UK National Study of Endometrial Cancer Genetics, UK1-CORGI: UK Colorectal Tumour Gene Identification Consortium, SEARCH: UK Studies of Epidemiology and Risk factors in Cancer Heredity, WTCCC1/2: Wellcome Trust Case Control Consortium 1/2, ANECS: Australian National Endometrial Cancer Study, QIMR: Queensland Institute of Medical Research, HCS: Hunter Community Study, E2C2: NCI-supported international consortium of four US-based cohort studies, 2 US-based case-control studies and 1 Polish case-control study, BECS/HJECS: Bavarian Endometrial Cancer Study/Hannover-Jena Endometrial Cancer Study, BBCC: Bavarian Breast Cancer Cases and Controls, BSUCH: Breast Cancer Study of the University Clinic Heidelberg, ESTHER: ESTHER Breast Cancer Study, GC-HBOC: German Consortium for Hereditary Breast & Ovarian Cancer, GENICA: Gene Environment Interaction and Breast Cancer in Germany, MARIE: Mammary Carcinoma Risk Factor Investigation, MoMaTEC: Molecular Markers in Treatment of Endometrial Cancer, NBCS: Norwegian Breast Cancer Study, SEARCH: UK Studies of Epidemiology and Risk factors in Cancer Heredity, NSECG: National Study of Endometrial Cancer Genetics, BBCS: British Breast Cancer Study, SBCS: Sheffield Breast Cancer Study, UKBGS: UK Breakthrough Generations Study, ANECS: Australian National Endometrial Cancer Study, NECS: Newcastle Endometrial Cancer Study, ABCFS: Australian Breast Cancer Family Study, ABCTB: Australian Breast Cancer Tissue Bank, BCEES: Breast Cancer Employment and Environment Study, MCCS: Melbourne Collaborative Cohort Study, LES: Leuven Endometrial Cancer Study, LMBC: Leuven Multidisciplinary Breast Centre, BECS: Bavarian Endometrial Cancer Study, BBCC: Bavarian Breast Cancer Cases and Controls, BSUCH: Breast Cancer Study of the University Clinic Heidelberg, GENICA: Gene Environment Interaction and Breast Cancer in Germany, GESBC: Genetic Epidemiology Study of Breast Cancer by Age 50, HaBCS: Hannover Breast Cancer Study, MARIE: Mammary Carcinoma Risk Factor Investigation, CAHRES: Cancer Hormone Replacement Epidemiology, RENDOCAS: Registry of Endometrial Cancer in Sweden, MISS: Melanoma Inquiry of Southern Sweden, pKARMA: Karolinska Mammography Project for Risk Prediction of Breast Cancer, SMC: Swedish Mammography Cohort, SEARCH: UK Studies of Epidemiology and Risk factors in Cancer Heredity, NSECG: National Study of Endometrial Cancer Genetics, BBCS: British Breast Cancer Study, CBR_STUDY98: Cambridge BioResource, UKBGS: UK Breakthrough Generations Study, MECS: Mayo Endometrial Cancer Study, MCBCS: Mayo Clinic Breast Cancer Study, MMHS: Mayo Mammography Health Study, WHI: Women's Health Initiative, UKBB: UK BioBank, OCAC: Ovarian Cancer Association Consortium, AHS: Alberta Health Services, EDGE: Oestrogen, Diet, Genetics and Endometrial Cancer, FHCRC: Fred Hutchinson Cancer Research Centre, MEC: Multiethnic Cohort Study, PECS: Polish Endometrial Cancer Study, SASBAC: Singapore and Swedish Breast/Endometrial Cancer Study, SECGS: Shanghai Endometrial Cancer Genetic Study.

  • †iCOGS dataset breakdown was not indicated by the listed studies here other than O’Mara et al., 2018.21

  • EA, effect allele; EAF, effect allele frequency; EC, endometrial cancer; EUR, European cohort; LCI, lower confidence interval; ME, multiethnic; OA, other allele; SNP, single nucleotide polymorphism; UCI, upper confidence interval.