rs25487

rs25487 is a SNP also known as Gln399Arg, located in the DNA repair gene XRCC1. The (A) allele encodes the Gln amino acid. In one study of ~1000 Caucasians, the rs25487(A;A) genotype had significantly reduced risk of both basal cell [BCC; odds ratio 0.7, CI: 0.4-1.0] and squamous cell cancer (SCC; odds ratio 0.6, CI: 0.3-0.9). In a study of ~300 Koreans, rs25487(A;G) and (G;G) genotypes had an approximately 2-fold increased risk of basal cell cancer compared to rs25487(A;A) individuals (adjusted odds ratio 2.324, CI: 1.11-4.86, respectively). A meta-analysis of 10+ studies found that rs25487(G) carriers had increased childhood risk of acute lymphoblastic leukemia among Asians under the dominant (odds ratio 2.11, CI: 1.50–2.97, p<0.0001) as well as other models. No association was found in Caucasians between rs25487 and risk of either myeloid or lymphocytic leukemia. A small study (113 cases) of Hispanics with non-small cell lung cancer found an odds ratio of 1.52 per rs25487(A) allele (CI: 1.01-2.28). A study of 200 patients with Hodgkin disease compared to controls concluded that some risk was associated with this SNP, along with SNPs in other genes involved in DNA repair genes. rs25487(A;G) individuals were at 1.77x increased risk (CI: 1.16-2.71) for the disease. A meta-analysis concludes that this SNP is not associated with risk of gastric cancer. Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes. Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes. Multiplex pyrosequencing of two polymorphisms in DNA repair gene XRCC1. Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells. DNA repair gene XRCC1 polymorphisms and bladder cancer risk. Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of northern Spain. Selected base excision repair gene polymorphisms and susceptibility to biliary tract cancer and biliary stones: a population-based case-control study in China. Genetic polymorphisms in the DNA repair genes XRCC1, XRCC2 and XRCC3 and risk of breast cancer in Cyprus. Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools. Association of the NQO1, MPO, and XRCC1 polymorphisms and chromosome damage among workers at a petroleum refinery. Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years. Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk. Genotyping panel for assessing response to cancer chemotherapy. Association of polymorphisms in base excision repair genes with the risk of breast cancer: a case-control study in North Indian women. Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk. Genetic variants associated with carboplatin-induced cytotoxicity in cell lines derived from Africans. Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population. Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994. International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways. SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms. Association and interactions between DNA repair gene polymorphisms and adult glioma. Tobacco and estrogen metabolic polymorphisms and risk of non-small cell lung cancer in women. Smoking modifies the relationship between XRCC1 haplotypes and HPV16-negative head and neck squamous cell carcinoma. Gene-environment interactions between DNA repair polymorphisms and exposure to the carcinogen vinyl chloride. Associations between polymorphisms in DNA repair genes and glioblastoma. Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer. Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array. Pharmacodynamic genes do not influence risk of neutropenia in cancer patients treated with moderately high-dose irinotecan. Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer. Association between polymorphisms in DNA repair genes and survival of non-smoking female patients with lung adenocarcinoma. MMP9 but Not EGFR, MET, ERCC1, P16, and P-53 Is Associated with Response to Concomitant Radiotherapy, Cetuximab, and Weekly Cisplatin in Patients with Locally Advanced Head and Neck Cancer. XRCC1 polymorphisms and breast cancer risk from the New York Site of the Breast Cancer Family Registry: A family-based case-control study. XRCC1, but not APE1 and hOGG1 gene polymorphisms is a risk factor for pterygium. DNA repair gene polymorphisms at XRCC1, XRCC3, XPD, and OGG1 loci in Maharashtrian population of central India. Association of genetic polymorphisms in DNA repair pathway genes with non-small cell lung cancer risk. Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes. CYP2A6 and ERCC1 polymorphisms correlate with efficacy of S-1 plus cisplatin in metastatic gastric cancer patients. Functional polymorphisms of base excision repair genes XRCC1 and APEX1 predict risk of radiation pneumonitis in patients with non-small cell lung cancer treated with definitive radiation therapy. Polymorphisms of the DNA repair genes XRCC1 and ERCC4 are not associated with smoking- and drinking-dependent larynx cancer in a Polish population. Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2. Association of APE1 and hOGG1 polymorphisms with colorectal cancer risk in a Turkish population. XRCC1 Arg399Gln gene polymorphism and the risk of systemic lupus erythematosus in the Polish population. Polymorphisms in tobacco metabolism and DNA repair genes modulate oral precancer and cancer risk. DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome. Validation of genetic sequence variants as prognostic factors in early-stage head and neck squamous cell cancer survival. Genetic polymorphisms involved in carcinogen metabolism and DNA repair and lung cancer risk in a Japanese population. Polymorphisms in base excision DNA repair genes and association with melanoma risk in a pilot study on Central-South Italian population.