A meta-analysis of 16 studies with 6797 cancer cases and 9018 controls concluded that rs2228001(C;C) homozygotes had an increased overall cancer risk (odds ratio of 1.16, CI: 1.05-1.28) compared with (A;A) homozygotes. This was primarily a risk for lung cancer.[PMID 18771913]
[PMID 20056640] Genetic variants of nucleotide excision repair genes are associated with DNA damage in coke oven workers
[PMID 21426550] The effect of tobacco, XPC, ERCC2 and ERCC5 genetic variants in bladder cancer development
[PMID 21622940] Single Nucleotide Polymorphisms in DNA Repair Genes and Association with Breast Cancer Risk in the WEB Study
[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 17498315] Sequence variations in DNA repair gene XPC is associated with lung cancer risk in a Chinese population: a case-control study.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18544627] Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.
[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 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 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 19706757] Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer.
[PMID 20141440] Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients.
[PMID 21324488] Single nucleotide polymorphisms in tobacco metabolism and DNA repair genes and prognosis in resected non-small-cell lung cancer.
|qualified_impact||Insufficiently evaluated not reviewed|
[PMID 23335232] Variants in nucleotide excision repair core genes and susceptibility to recurrence of squamous cell carcinoma of the oropharynx
[PMID 23400628] Associations of Lys939Gln and Ala499Val polymorphisms of the XPC gene with cancer susceptibility: a meta-analysis
[PMID 24552298] Association Between Six Genetic Polymorphisms and Colorectal Cancer: A Meta-Analysis
[PMID 22902050] Using haplotype analysis to elucidate significant associations between genes and Hodgkin lymphoma.
[PMID 23175176] Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
[PMID 23436679] Xeroderma pigmentosum genes and melanoma risk.
[PMID 25785113] XPC codon 939 polymorphism is associated with susceptibility to DNA damage induced by aflatoxin B1 exposure
[PMID 26135929] A Systematic Review and Meta-Analysis of Three Gene Variants Association with Risk of Prostate Cancer: An Update
|Disease||not specified cisplatin response - Toxicity/ADR Cardiomyopathy Xeroderma pigmentosum|
|CLNDBN||not specified cisplatin response - Toxicity/ADR Cardiomyopathy, ARVC Xeroderma pigmentosum|
|CLNSRC||PharmGKB Clinical Annotation UniProtKB (protein)|
|CLNACC||RCV000170436.2, RCV000211268.1, RCV000331098.1, RCV000380504.1,|
[PMID 26339355] Genetic polymorphisms in nucleotide excision repair pathway influences response to chemotherapy and overall survival in osteosarcoma
[PMID 28115302] Interactions among polymorphisms of NER genes prompt the risk of transplantation rejection.