Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0476089 (endometrial cancer)
 11,379 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Exposure to estrogens is a likely cause of endometrial cancer, but the means by which estrogens exert this effect are not entirely clear. One hypothesis is that certain estrogen metabolites bind to the DNA, forming bulky adducts that damage the DNA and initiate carcinogenesis. A woman's reduced capacity to repair such damage may increase her risk of endometrial cancer. We conducted a population-based case-control study in western Washington State to address the role of variation in nucleotide excision repair genes on the risk of endometrial cancer. Case women (n = 371), ages 50 to 69 years, were diagnosed with invasive endometrial cancer between 1994 and 1999. Control women (n = 420) were selected using random-digit dialing (ages 50-65 years) and by random selection from Health Care Financing Administration data files (ages 66-69 years). Genotyping assays were done for ERCC1, ERCC2 (XPD), ERCC4 (XPF), ERCC5 (XPG), XPA, and XPC. No appreciable differences between cases and controls were observed in the genotype distributions of ERCC1 (c8092a and c19007t), ERCC2 (D312N, K751Q, and c22541a), ERCC4 (R415Q and t30028c), or ERCC5 (D1104H). Carriage of at least one variant allele for XPA G23A was associated with decreased risk of endometrial cancer [odds ratio (OR), 0.70; 95% confidence interval (95% CI), 0.53-0.93]. Carriage of at least one XPC A499V variant allele was associated with a modest decrease in risk (OR, 0.79; 95% CI, 0.59-1.05). Women with variant alleles at both XPC A499V and K939Q had 58% of the risk of women with no XPC variant alleles (OR, 0.58; 95% CI, 0.35-0.96). Our data suggest that interindividual variation in XPA and XPC influences a woman's risk of endometrial cancer.
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PMID:Interindividual variation in nucleotide excision repair genes and risk of endometrial cancer. 1628 73

Several polymorphisms in the DNA repair gene are thought to have significant effects on cancer risk. In this study, we investigated the association of the polymorphisms in the DNA repair genes, XRCC1 Arg399Gln, XRCC3 Thr241Met, XPD Lys751Gln, XPG Asp1104His, APE1 Asp148Glu, and HOGG1 Ser326Cys, with endometrium cancer risk. Two hundred and sixty-two women were included in the study. Endometrial biopsy was performed, and on the basis of diagnosis and histological examination, women were divided into two groups: a control group (n=158) and an endometrial cancer group (n=104). Genotypes were determined by PCR-RFLP assays in endometrial carcinoma patients and age-matched controls. In this study, we found that the frequencies of Glu+ and Asp/Glu genotypes in APE, Gln/Gln genotype of XRCC1, Met/Met genotype of XRCC3, Cys+ and Ser/Cys genotypes of HOGG1, His+ and Asp/His genotypes of XPG, and Gln+ and Gln/Gln genotypes of XPD are more prevalent in patients than controls. Frequencies of Thr/Thr genotype in XRCC3 were increased in controls compared with patients and seem to be protected from endometrial cancer. Our findings suggest that XRCC1, XRCC3, XPD, XPG, APE1, and HOGG1 genetic variants may be associated with endometrial cancer in Turkish women.
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PMID:DNA repair gene variants in endometrial carcinoma. 2227 35

Aim: The aim of this study was to analyse the frequencies of genotypes and alleles of Single Nucleotide Polymorphisms (SNPs) of six DNA repair genes (XRCC1-rs25487, XPD-rs13181, hMSH2-rs4987188, XRCC2-rs3218536, BRCA1-rs799917 and BRCA2-rs144848 SNPs) and attempt to evaluate the effect this DNA marker on endometrial cancer (EC). Material and methods: The patients were recruited to the study at the Department of Operative Gynaecology of the Institute of the Polish Mother's Memorial Hospital in Lodz. The study comprised 510 patients treated for EC. 510 disease-free individuals were used as controls. SNPs were analysed by the high resolutionmelting technique (HRM). Results: Statistically significant correlations were identified between four SNPs and endometrial cancer risk: rs25487, rs4987188, rs13181 and rs799917. The alleles XRCC1-Gln (OR 2.89; 95% CI 2.39-3.49, P<0.0001), hMSH2-Asp (OR 1.65; 95% CI 1.38-1.96, P<0.0001), XPD-Gln (OR 3.24; 95% CI 2.69-3.91, P<0.0001) and BRCA1-L (OR 1.56; 95% CI 1.31-1.85, P<0.0001) genes were strongly correlated with this malignancy. No relationship was found between the studied polymorphisms of XRCC2 and BRCA2 and the incidence of endometrial cancer. There was also not any association between polymorphisms of XRCC1, hMSH2, XPD, XRCC2, BRCA1, BRCA2, i.e., the polymorphisms of the analysed repair genes, and the cancer stage progression acc. to FIGO, the body mass index, the number of pregnancies in history, replacement therapy, diabetes mellitus and hypertension. Conclusions: The results indicate that rs25487, rs4987188, rs13181, and rs799917 SNPs may be associated with the incidence of endometrial cancer.
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PMID:Association between single nucleotide polymorphism of DNA repair genes and endometrial cancer: a case-control study. 3193 77