rs13181

rs13181, also known as c.2251A>C, p.Lys751Gln and K751Q, is a variant in the ERCC2 gene on chromosome 19. A meta-analysis of 20 studies, comprising 2,308 cases, ultimately concluded that the rs13181(G) allele is associated with increased cutaneous melanoma risk (odds ratio 1.12, CI: 1.03-1.21, p = 0.01; population attributable risk = 9.6%). A preliminary (as yet unreplicated) study of 430 patients with ovarian cancer concluded that rs13181(C;C) is associated with an increased risk of ovarian cancer (OR 5.01 relative to rs13181(A;A), CI: 3.37-7.43; p < 0.0001). Interestingly, heterozygotes were reported to have a lower odds ratio for developing ovarian cancer (of 0.43; CI: 0.27–0.62, p < 0.0001) compared to rs13181(A;A) individuals. Polymorphisms in XPD and TP53 and mutation in human lung cancer. Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method. ERCC1 and ERCC2 polymorphisms and adult glioma. [Correlation of genetic polymorphisms in nucleotide excision repair system to sensitivity of advanced non-small cell lung cancer patients to platinum-based chemotherapy]. 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. Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells. Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis. Polymorphisms in nucleotide excision repair genes, arsenic exposure, and non-melanoma skin cancer in New Hampshire. Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of northern Spain. Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools. Polymorphisms in MGMT and DNA repair genes and the risk of esophageal adenocarcinoma. Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk. Genotyping panel for assessing response to cancer chemotherapy. Genotypes and haplotypes of ERCC1 and ERCC2/XPD genes predict levels of benzo[a]pyrene diol epoxide-induced DNA adducts in cultured primary lymphocytes from healthy individuals: a genotype-phenotype correlation analysis. Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk. Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans. Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma. Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists. Inter-individual variation in nucleotide excision repair in young adults: effects of age, adiposity, micronutrient supplementation and genotype. Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy. International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways. Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk. Analysis of ERCC2/XPD functional polymorphisms in systemic lupus erythematosus. Association and interactions between DNA repair gene polymorphisms and adult glioma. Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway. Gene-environment interactions between DNA repair polymorphisms and exposure to the carcinogen vinyl chloride. Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer. Lung cancer susceptibility model based on age, family history and genetic variants. Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array. Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer. Significant association of XPD codon 312 single nucleotide polymorphism with bladder cancer susceptibility in Taiwan. ERCC2, ERCC1 polymorphisms and haplotypes, cooking oil fume and lung adenocarcinoma risk in Chinese non-smoking females. 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. Polymorphisms in ERCC2, MSH2, and OGG1 DNA repair genes and gallbladder cancer risk in a population of Northern India. Polymorphisms of COMT and XPD and risk of esophageal squamous cell carcinoma in a population of Yili Prefecture, in Xinjiang, China. 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. ERCC1 and ERCC2 polymorphisms predict clinical outcomes of oxaliplatin-based chemotherapies in gastric and colorectal cancer: a systemic review and meta-analysis. Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes. Analysis of XPD genetic polymorphisms of esophageal squamous cell carcinoma in a population of Yili Prefecture, in Xinjiang, China. Association of APE1 and hOGG1 polymorphisms with colorectal cancer risk in a Turkish population. Polymorphisms in tobacco metabolism and DNA repair genes modulate oral precancer and cancer risk. 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.

G;G

see discussion at rs13181