ECDB-Endometrial cancer gene database

REFERENCES

Gene Name	Gene ID	Pubmed ID	Classification	Mechanism	Marker	Type	Normal Cases	Disease Cases	Age	Mean Age	Place	FIGO	Grade	Remark	Title	Journal	Volume	Year
ESR1	2099	12270131	-	Polymorphism	-	-	200	113 (86 endometrioid cancer+ 6 adenoacantoma+ 2 adenosquamous cancer+ 2 clear cell cancer+ 17 unknown type)	20 to 69	-	Department of Gynecology; Hospital of Hokkaido University; Japan	-	-	[1] Inherited alterations in ERalpha may be associated with changes in estrogen metabolism and thereby may possibly explain inter-individual differences in disease incidences of endometrial cancer. [2] The frequency of variant genotype on codon 10 was significantly lower in endometrial cancer patients as compared to controls. Nine of 113 endometrial cancer patients (8.0%) showed genotype 10C/C compared to 27 of 200 healthy controls (13.5%). The relative risk of genotype 10C/C was calculated as 0.44; compared to wild-type. Forty-five of 113 endometrial cancer patients (39.8%) showed genotype T/C on codon 10 compared to 111 of 200 healthy controls (55.5%). The relative risk of genotype 10T/C was calculated as 0.67; compared to wild-type. [3] The frequency of alleles on codon 10 was also significantly lower in endometrial cancer patients as compared to controls (P<0.001).	Polymorphisms of estrogen receptor alpha gene in endometrial cancer.	Biochemical and biophysical research communications	297(3):558-64	2002
ESR1	2099	12962933	-	Polymorphism	-	-	65	92	-	59.3 (patient); 57.4 (control)	Department of Obstetrics and Gynecology; Faculty of Medicine; Kagoshima University; Japan	-	-	[1] Estrogen receptor alpha polymorphisms; may be associated with a risk of endometrial cancer. [2] The Pvu II PP genotype was associated with a decreased risk of endometrial cancer (multivariable OR 0.23; 95% CI 0.07; 0.82) compared with the pp genotype. The Xba I XX genotype was associated with a decreased risk for endometrial cancer (multivariable OR 0.26; 95% CI 0.09; 0.79) compared with the xx genotype.	Association of estrogen receptor alpha and beta3-adrenergic receptor polymorphisms with endometrial cancer.	Obstetrics and Gynecology	102(3):506-11	2003
ESR1	2099	18990228	-	Polymorphism	-	-	702	1563	50 to 74 {The specimens were reclassified as: endometroid adenocarcinoma (n = 648); seropapillary carcinoma (n = 36); clear cell carcinoma (n = 10); adenoacanthoma (n = 3); adenosquamous carcinoma (n = 12); endometrial atypical hyperplasia (n = 80) (adeno	-	-	-	-	[1] An intronic variation in ESR1 was associated with endometrial cancer risk. [2] An association between rs2234670; rs2234693; as well as rs9340799; markers in strong linkage disequilibrium (LD); and endometrial cancer risk. The association with rs9340799 was the strongest; OR 0.75 (CI 0.60-0.93) for heterozygous and OR 0.53 (CI 0.37-0.77) for homozygous rare compared to those homozygous for the most common allele.	Estrogen receptor alpha gene polymorphism and endometrial cancer risk--a case-control study.	BMC Cancer	8:322	2008
ESR1	2099	19438492	-	Polymorphism	-	-	191	291	-	-	Hunter Centre for Gynaecological Cancer; John Hunter Hospital; Newcastle; New South Wales; Australia.	-	-	[1] Two ESR1 (rs2234693 and rs9340799) polymorphisms were associated with an increased risk of endometrial cancer. Following adjustment for risk factors; the association with the ESR1 polymorphisms (rs2234693) remained highly significant. Haplotype analysis revealed that carriers of the ESR1 haplotype (variant alleles; rs2234693 and rs9340799) were at an increased risk (OR 1.862; P = 0.013 and OR 1.918; P = 0.046 respectively). This risk was even greater in women carrying both ESR1 and ESR2 risk haplotypes (OR 5.041; P = 0.007).	Estrogen receptor polymorphisms and the risk of endometrial cancer.	BJOG: An International Journal of Obstetrics & Gynaecology	116(8):1053-61	2009
ESR1	2099	21272446	-	Polymorphism	-	-	1212	1204	30 to 69	-	Shanghai; China	-	-	[1] The polymorphism rs2046210 of ESR1 may play a role in the etiology of endometrial cancer. [2] The A allele of rs2046210; linked to an increased risk of breast cancer; was associated with increased but not statistically significant risk of endometrial cancer (OR = 1.16; 95% CI = 0.96-1.41 for the GA and AA genotypes compared with the GG genotype); the association was stronger among post-menopausal women (OR = 1.28; 95% CI = 1.00-1.65). The association tended to be stronger among women with higher or longer estrogen exposure than among women with relatively lower or shorter exposure to estrogen.	Association of a single nucleotide polymorphism at 6q25.1;rs2046210; with endometrial cancer risk among Chinese women.	Chinese Journal of Cancer	30(2):138-43	2011
ESR1	2099	8104681	Endometrial adenocarcinoma + Papillary Serous carcinoma	-	-	-	-	32 (Endometrial adenocarcinoma) + 2 (Papillary Serous carcinoma)	-	-	-	I (n=17); II (n=4); III (n=13)	1 (n=12); 2 (n=14); 3 (n=6)	[1] In the endometrial carcinomas; ER positivity was found in 19 of the 34 (55.9%) patients. [2] The positivity for ER or PR was observed in 12 of the 17 (70.6%) patients with Stage I disease; 3 of the 4 (75%) patients withStage 11; and 9 of the 13 (69.2%) patients with Stage I11disease. [3] ER or PR positivity also was significantly correlated with histologic differentiation in endometrioid-type carcinomas; ER or PR were positive in 91.7% of G1; 78.6% of G2; and 33.3% of G3 tumors	Expression of c-erbB-2 protein and epidermal growth receptor in endometrial carcinomas. Correlation with clinicopathologic and sex steroid receptor status.	Cancer	72(9):2628-37	1993