|(G;G)||2||>1.12x increased risk for cutaneous melanoma; possible increase in ovarian cancer risk|
|(G;T)||1.5||1.12x increased risk for cutaneous melanoma|
|(T;T)||1||Normal risk for cutaneous melanoma|
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%).[PMID 19706646]
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.[PMID 26526682]
|Disease Association||Defects in ERCC2 are the cause of COFS syndrome (MIM:214150); also known as cerebro-oculo-facio-skeletal syndrome. COFS syndrome is a recessively inherited rapidly progressive neurologic disorder leading to brain atrophy, with calcifications, cataracts, microcornea, optic atrophy, progressive joint contractures, and growth failure.|
[PMID 19318434] Associations between Polymorphisms in DNA Repair Genes and Glioblastoma.
[PMID 19615095] Statistically significant association of the single nucleotide polymorphism (SNP) rs13181 (ERCC2) with predisposition to Squamous Cell Carcinomas of the Head and Neck (SCCHN) and Breast cancer in the north Indian population
[PMID 19484764] DNA repair polymorphisms associated with cytogenetic subgroups in B-cell chronic lymphocytic leukemia
[PMID 19902366] Genetic variation in DNA repair genes and prostate cancer risk: results from a population-based study
[PMID 20571908] MUTYH Tyr165Cys, OGG1 Ser326Cys and XPD Lys751Gln polymorphisms and head neck cancer susceptibility: a case control study
[PMID 20232390] Genetic variations of DNA repair genes and their prognostic significance in patients with acute myeloid leukemia
[PMID 21419115] DNA Repair Gene ERCC2 Polymorphisms and Risk of Squamous Cell Carcinoma of the Head and Neck
[PMID 21426550] The effect of tobacco, XPC, ERCC2 and ERCC5 genetic variants in bladder cancer development
[PMID 21617750] XRCC1 and XPD DNA repair gene polymorphisms: A potential risk factor for glaucoma in the Pakistani population
[PMID 21826087] Nucleotide excision repair gene variants and association with survival in osteosarcoma patients treated with neoadjuvant chemotherapy
[PMID 21890746] Effects of ERCC2 Lys751Gln (A35931C) and CCND1 (G870A) polymorphism on outcome of advanced-stage squamous cell carcinoma of the head and neck are treatment dependent
[PMID 15564288] Polymorphisms in XPD and TP53 and mutation in human lung cancer.
[PMID 16026601] Decision forest analysis of 61 single nucleotide polymorphisms in a case-control study of esophageal cancer; a novel method.
[PMID 16212814] ERCC1 and ERCC2 polymorphisms and adult glioma.
[PMID 16351803] [Correlation of genetic polymorphisms in nucleotide excision repair system to sensitivity of advanced non-small cell lung cancer patients to platinum-based chemotherapy].
[PMID 16465622] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
[PMID 16857995] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
[PMID 17267408] Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
[PMID 17299578] Genetic polymorphisms in the nucleotide excision repair pathway and lung cancer risk: a meta-analysis.
[PMID 17687452] Polymorphisms in nucleotide excision repair genes, arsenic exposure, and non-melanoma skin cancer in New Hampshire.
[PMID 17705814] Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of northern Spain.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18386788] Polymorphisms in MGMT and DNA repair genes and the risk of esophageal adenocarcinoma.
[PMID 18544627] Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.
[PMID 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18635523] 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.
[PMID 18701435] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
[PMID 18709642] Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans.
[PMID 18711149] Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma.
[PMID 18767034] Nucleotide excision repair polymorphisms may modify ionizing radiation-related breast cancer risk in US radiologic technologists.
[PMID 18838045] Inter-individual variation in nucleotide excision repair in young adults: effects of age, adiposity, micronutrient supplementation and genotype.
[PMID 18854777] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.
[PMID 18990748] International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.
[PMID 19029193] Red meat and poultry intake, polymorphisms in the nucleotide excision repair and mismatch repair pathways and colorectal cancer risk.
[PMID 19055600] Analysis of ERCC2/XPD functional polymorphisms in systemic lupus erythematosus.
[PMID 19124499] Association and interactions between DNA repair gene polymorphisms and adult glioma.
[PMID 19270000] Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway.
[PMID 19274602] Gene-environment interactions between DNA repair polymorphisms and exposure to the carcinogen vinyl chloride.
[PMID 19367277] Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer.
[PMID 19390575] Lung cancer susceptibility model based on age, family history and genetic variants.
[PMID 19536092] Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.
[PMID 19706757] Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer.
[PMID 19846926] Significant association of XPD codon 312 single nucleotide polymorphism with bladder cancer susceptibility in Taiwan.
[PMID 20003391] ERCC2, ERCC1 polymorphisms and haplotypes, cooking oil fume and lung adenocarcinoma risk in Chinese non-smoking females.
[PMID 20003463] Association between polymorphisms in DNA repair genes and survival of non-smoking female patients with lung adenocarcinoma.
[PMID 20066159] 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.
[PMID 20564624] Polymorphisms in ERCC2, MSH2, and OGG1 DNA repair genes and gallbladder cancer risk in a population of Northern India.
[PMID 20979431] Polymorphisms of COMT and XPD and risk of esophageal squamous cell carcinoma in a population of Yili Prefecture, in Xinjiang, China.
[PMID 21183201] DNA repair gene polymorphisms at XRCC1, XRCC3, XPD, and OGG1 loci in Maharashtrian population of central India.
[PMID 21195504] Association of genetic polymorphisms in DNA repair pathway genes with non-small cell lung cancer risk.
[PMID 21278243] ERCC1 and ERCC2 polymorphisms predict clinical outcomes of oxaliplatin-based chemotherapies in gastric and colorectal cancer: a systemic review and meta-analysis.
[PMID 21283657] Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes.
[PMID 21553048] Analysis of XPD genetic polymorphisms of esophageal squamous cell carcinoma in a population of Yili Prefecture, in Xinjiang, China.
[PMID 21561390] Association of APE1 and hOGG1 polymorphisms with colorectal cancer risk in a Turkish population.
[PMID 21741876] Polymorphisms in tobacco metabolism and DNA repair genes modulate oral precancer and cancer risk.
[PMID 22076708] Validation of genetic sequence variants as prognostic factors in early-stage head and neck squamous cell cancer survival.
[PMID 22525558] Genetic polymorphisms involved in carcinogen metabolism and DNA repair and lung cancer risk in a Japanese population.
|qualified_impact||Insufficiently evaluated pharmacogenetic|
|summary||Increased risk of early relapse in Asian patients with fluoruracil or leucovorin.|
|Trait||Lung Cancer (DNA repair capacity)|
|Title||Genome-wide association study reveals novel genetic determinants of DNA repair capacity in lung cancer.|
|Odds Ratio||NR NR|
[PMID 23147699] Association of genetic polymorphisms in ERCC1 and ERCC2/XPD with risk of chronic benzene poisoning in a Chinese occupational population
[PMID 23680703] A genetic variant in ERCC2 is associated with gastric cancer prognosis in a Chinese population
[PMID 23716550] No association between the XPD Lys751Gln (rs13181) polymorphism and disease phenotype or leukemic transformation in primary myelofibrosis
[PMID 23335232] Variants in nucleotide excision repair core genes and susceptibility to recurrence of squamous cell carcinoma of the oropharynx
[PMID 23936089] Polymorphisms in DNA-Repair Genes in a Cohort of Prostate Cancer Patients from Different Areas in Spain: Heterogeneity between Populations as a Confounding Factor in Association Studies
[PMID 23962907] ERCC1 C8092A (rs3212986) polymorphism as a predictive marker in esophageal cancer patients treated with cisplatin/5-FU-based neoadjuvant therapy
[PMID 24023723] ERCC1 and ERCC2 Variants Predict Survival in Gastric Cancer Patients
[PMID 24084248] The GSTM1null (deletion) and MGMT84 rs12917 (Phe/Phe) haplotype are associated with bulky DNA adduct levels in human leukocytes
[PMID 24103542] High-throughput genotyping system as a robust and useful tool in oncology: Experience from a single institution
[PMID 24254311] Association between ERCC1 C8092A and ERCC2 K751Q polymorphisms and risk of adult glioma: a meta-analysis
[PMID 24260311] Polymorphisms in XPD Gene Could Predict Clinical Outcome of Platinum-Based Chemotherapy for Non-Small Cell Lung Cancer Patients: A Meta-Analysis of 24 Studies
[PMID 24325908] Analysis of dna repair gene polymorphisms in glioblastoma
[PMID 24500421] Association between DNA repair gene polymorphisms and risk of glioma: A systematic review and meta-analysis
[PMID 22740138] An interethnic variability and a functional prediction of DNA repair gene polymorphisms: the example of XRCC3 (p.Thr241>Met) and XPD (p.Lys751>Gln) in a healthy Tunisian population.
[PMID 22797977] XPD gene rs13181 polymorphism and DNA damage in human lymphocytes.
[PMID 23619945] Polymorphisms in DNA repair pathway genes, body mass index, and risk of non-Hodgkin lymphoma.
[PMID 23661361] The potential effect of gender in CYP1A1 and GSTM1 genotype-specific associations with pediatric brain tumor.
[PMID 23959014] DNA Repair Genes XRCC1, XRCC3, XPD, and OGG1 Polymorphisms among the Central Region Population of Saudi Arabia
[PMID 23596707] [Study on association between ERCC2/XPD single nucleotide polymorphisms and DNA adducts damage induced by B[a]P in vitro]
|Disease||not specified Xeroderma pigmentosum Non-small cell lung cancer Osteosarcoma|
|CLNDBN||not specified Xeroderma pigmentosum Non-small cell lung cancer Osteosarcoma|
|CLNACC||RCV000120777.2, RCV000282755.1, RCV000418924.1, RCV000436606.1,|
[PMID 25715450] [DNA repair XRCC1, XPD genes polymorphism as associated with the development of bladder cancer and renal cell carcinoma]
[PMID 25789018] Analysis of ERCC1 and ERCC2 gene variants in osteosarcoma, colorectal and breast cancer
[PMID 26254397] Contribution of DNA Repair Xeroderma Pigmentosum Group D Genotype to Gastric Cancer Risk in Taiwan
[PMID 26264164] A Comprehensive Analysis of Influence ERCC Polymorphisms Confer on the Development of Brain Tumors
[PMID 26314858] Influences of ERCC1, ERCC2, XRCC1, GSTP1, GSTT1, and MTHFR polymorphisms on clinical outcomes in gastric cancer patients treated with EOF chemotherapy
[PMID 26339355] Genetic polymorphisms in nucleotide excision repair pathway influences response to chemotherapy and overall survival in osteosarcoma
[PMID 26400354] Investigation of ERCC1 and ERCC2 gene polymorphisms and response to chemotherapy and overall survival in osteosarcoma
[PMID 26436406] Genetic variability of genes involved in DNA repair influence treatment outcome in osteosarcoma
[PMID 26475344] CYP39A1 polymorphism is associated with toxicity during intensive induction chemotherapy in patients with advanced head and neck cancer
[PMID 26843108] A Comprehensive Meta-analysis of Genetic Associations Between Key Polymorphic Loci in DNA Repair Genes and Glioma Risk.
[PMID 27668351] Study of association between pre-senile cataracts and rs11615 of ERCC1, rs13181 of ERCC2, and rs25487 of XRCC1 polymorphisms in a Spanish population.
[PMID 28351583] Candidate apoptotic and DNA repair gene approach confirms involvement of ERCC1, ERCC5, TP53 and MDM2 in radiation-induced toxicity in head and neck cancer.
[PMID 28707579] The Involvement of ERCC2/XPD and ERCC6/CSB Wild Type Alleles in Protection against Aging and Cancer.