Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs1800440
rs1800440
0.050 GeneticVariation BEFREE In summary, this meta-analysis suggests that Leu432Val polymorphism is associated with ovarian cancer, lung cancer, and endometrial cancer risk; Asn453Ser and Arg48Gly polymorphisms are associated with endometrial cancer risk among Caucasians, Ala119Ser polymorphism is associated with prostate cancer risk, and Ala119Ser polymorphism is associated with breast cancer risk in Caucasians. 25475389

2015

dbSNP: rs1056836
rs1056836
0.050 GeneticVariation BEFREE CYP1B1 Leu432Val and Asn453Ser polymorphisms demonstrated an increased and decreased risk for endometrial cancer, respectively. 23370603

2013

dbSNP: rs1800440
rs1800440
0.050 GeneticVariation BEFREE CYP1B1 Leu432Val and Asn453Ser polymorphisms demonstrated an increased and decreased risk for endometrial cancer, respectively. 23370603

2013

dbSNP: rs1056836
rs1056836
0.050 GeneticVariation BEFREE We found that CYP1B1 gene L432V polymorphism was associated with a significantly increased risk of endometrial cancer (G vs. C: OR=1.23, 95% CI: 1.06-1.43, P=0.007; GC+GG vs. CC:OR=1.24, 95% CI: 1.08-1.43, P=0.003; GC vs. CC: OR=1.16, 95% CI: 1.04-1.29, P=0.009). 21191305

2011

dbSNP: rs1800440
rs1800440
0.050 GeneticVariation BEFREE In conclusion, this meta-analysis provides strong evidence that CYP1B1 gene R48G, L432V, and N4</span>53S polymorphisms are associated with endometrial cancer risk, but not A119S. 21191305

2011

dbSNP: rs1056836
rs1056836
0.050 GeneticVariation BEFREE Gene-gene interaction between the Arg48Arg (142C > C) and Leu432Val (4326C > G) variants and between Arg48Gly (142C > G) -CYP1B1 and 975C > G -ERalpha as well as Gly48Gly (142G > G)-CYP1B1 and 975C > G-ERalpha increased the risk of endometrial cancer (OR 2.70; 95%CI 1.12-6.49; OR 2.52; 95%CI 1.04-6.11 and OR 3.62; 95%CI 1.27-10.30, respectively). 20492382

2010

dbSNP: rs1800440
rs1800440
0.050 GeneticVariation BEFREE The GSTM1 deletion and the variant (GG) genotype of the CYP1B1 rs1800440 polymorphism were associated with a decreased risk of developing endometrial cancer. 20381444

2010

dbSNP: rs1056836
rs1056836
0.050 GeneticVariation BEFREE We evaluated the association between the CYP1B1 Leu432Val and CYP1B1 Asn453Ser polymorphisms and the COMT Val158Met polymorphism and invasive endometrial cancer risk in a case-control study nested within the Nurses' Health Study (n = 222 cases, 666 controls). 14656940

2004

dbSNP: rs1800440
rs1800440
0.050 GeneticVariation BEFREE We evaluated the association between the CYP1B1 Leu432Val and CYP1B1 Asn453Ser polymorphisms and the COMT Val158Met polymorphism and invasive endometrial cancer risk in a case-control study nested within the Nurses' Health Study (n = 222 cases, 666 controls). 14656940

2004

dbSNP: rs2279744
rs2279744
0.040 GeneticVariation BEFREE Subgroup analysis showed that rs2279744 (SNP309) was associated with the risk of gynecological cancers in Caucasian and Asian according to the ethnicity and cancer type, especially for endometrial cancer. 29480845

2018

dbSNP: rs2279744
rs2279744
0.040 GeneticVariation BEFREE In conclusion, the study found that MDM2 rs2279744 polymorphism was significantly associated with endometrial cancer risk in a Chinese Han population. 29096752

2017

dbSNP: rs2279744
rs2279744
0.040 GeneticVariation BEFREE The aim of the study was to determine an association of TP53 codon 72 (Arg72Pro, G>C transversion, rs1042522) and MDM2 SNP309 (T>G change, rs2279744) polymorphisms in endometrial cancer (EC) of postmenopausal women, regarding grading and staging of EC. 25316267

2014

dbSNP: rs2279744
rs2279744
0.040 GeneticVariation BEFREE Our pooled data suggest evidence for a major role of MDM2 rs2279744 polymorphism in the carcinogenesis of endometrial cancer, especially among Caucasian populations. 24293392

2014

dbSNP: rs4680
rs4680
0.040 GeneticVariation BEFREE COMT Val158Met was seen to show a decreased risk for endometrial cancer in Asian population. 23370603

2013

dbSNP: rs4680
rs4680
0.040 GeneticVariation BEFREE Although no obvious associations were detected between COMT Val158Met and endometrial cancer susceptibility in the pooled analysis, we noted significantly decreased endometrial cancer risk for Val/Met versus Val/Val, and Met/Met + Val/Met versus Val/Val genetic models in the postmenopausal female (OR = 0.795, 95%CI = 0.656-0.962, P = 0.019; and OR = 0.819, 95%CI = 0.683-0.983, P = 0.032; respectively), and similar results existed in high-quality studies (OR = 0.835, 95%CI = 0.726-0.961, P = 0.012; and OR = 0.853, 95%CI = 0.747-0.974, P = 0.019; respectively). 24390993

2013

dbSNP: rs4680
rs4680
0.040 GeneticVariation BEFREE DNA samples from 150 cases of EC and healthy controls (n = 165) were analyzed by PCR-RFLP to determine the genotypic frequency of four different polymorphic loci on COMT [codon 62 (rs4633), 102 (rs5031015), 136 (rs4818), 158 (rs4680)]. 18324659

2008

dbSNP: rs4680
rs4680
0.040 GeneticVariation BEFREE We evaluated the association between the CYP1B1 Leu432Val and CYP1B1 Asn453Ser polymorphisms and the COMT Val158Met polymorphism and invasive endometrial cancer risk in a case-control study nested within the Nurses' Health Study (n = 222 cases, 666 controls). 14656940

2004

dbSNP: rs4430796
rs4430796
0.030 GeneticVariation BEFREE Strong significant associations were found between rs4430796 A and the risk of both prostate cancer (OR = 1.247, p = 2.21 × 10<sup>- 77</sup>) and endometrial cancer (OR = 1.217, p = 8.98 × 10<sup>- 16</sup>); the AA, AG genotypes also showed strong significant associations with the risk of prostate cancer (OR1 = 1.517, p = 4.46 × 10<sup>- 22</sup>; OR2 = 1.180, p = 0.002). 30053805

2018

dbSNP: rs10012
rs10012
0.030 GeneticVariation BEFREE In summary, this meta-analysis suggests that Leu432Val polymorphism is associated with ovarian cancer, lung cancer, and endometrial cancer risk; Asn453Ser and Arg48Gly polymorphisms are associated with endometrial cancer risk among Caucasians, Ala119Ser polymorphism is associated with prostate cancer risk, and Ala119Ser polymorphism is associated with breast cancer risk in Caucasians. 25475389

2015

dbSNP: rs4430796
rs4430796
0.030 GeneticVariation BEFREE rs4430796 polymorphism of HNF1B gene influences independently the prognosis of EC patients with a potential effect on tumor chemo-sensitivity. 25885815

2015

dbSNP: rs605059
rs605059
0.030 GeneticVariation BEFREE The result showed no significant association between HSD17B1 rs605059 gene polymorphisms and risks of endometrial cancer (AA vs. AG+GG: OR = 1.11, 95% CI = 0.94-1.32; AA+AG vs. GG: OR = 1.79, 95% CI = 0.42-7.52; AG vs. AA+ GG: OR = 0.87, 95% CI = 0.76-1.00; AA vs. GG: OR = 1.43, 95% CI = 0.62-3.30; A vs. G: OR = 1.00, 95% CI = 0.91-1.11) or endometriosis (AA vs. AG+GG: OR = 0.99, 95% CI = 0.75-1.32; AA+AG vs. GG: OR = 1.73, 95% CI = 0.92-3.25; AG vs. AA+ GG: OR = 1.24, 95% CI = 1.00-1.53; AA vs. GG: OR = 1.54, 95% CI = 0.79-2.97; A vs. G: OR = 1.23, 95% CI = 0.90-1.68). 26261478

2015

dbSNP: rs1048943
rs1048943
0.030 GeneticVariation BEFREE This meta-analysis suggests that there is no association between endometrial cancer risk and the CYP1A1 Ile462Val polymorphism. 23098461

2012

dbSNP: rs10012
rs10012
0.030 GeneticVariation BEFREE An association of CYP1B1 gene R48G polymorphism with endometrial cancer was found [GG vs. GC+CC: odds ratio (OR)=0.55, 95% confidence interval (CI): 0.42-0.73, P<0.0001; GG vs. CC: OR=0.46, 95% CI: 0.23-0.91, P=0.03]. 21191305

2011

dbSNP: rs1048943
rs1048943
0.030 GeneticVariation BEFREE Similarly, Ile462Val polymorphism was not associated with endometrial cancer risk (for heterozygous Ile/Val vs Ile/Ile carriers: OR = 1.27, 95% CI, 0.78-2.06, random effects; for homozygous Val/Val vs Ile/Ile carriers: OR = 1.16, 95% CI, 0.48-2.81, fixed effects). 21270613

2011

dbSNP: rs4430796
rs4430796
0.030 GeneticVariation BEFREE We identified an endometrial cancer susceptibility locus close to HNF1B at 17q12 (rs4430796, P = 7.1 × 10(-10)) that is also associated with risk of prostate cancer and is inversely associated with risk of type 2 diabetes. 21499250

2011