|(T;T)||1||statistically significant, but slight, increase in bladder cancer risk|
rs2228000, also known as Ala499Val and A499V, is a SNP in the DNA nuclear excision repair gene xeroderma pigmentosum complementation group C XPC gene. The Val (V) allele is encoded by the rs2228000(T) allele.
A meta-analysis of 11 studies with 5581 cancer cases and 6351 controls concluded that rs2228000(T;T) homozygotes had an increased overall cancer risk (odds ratio of 1.24, CI: 1.08-1.42) compared with (C;C) homozygotes. This was primarily a risk for bladder cancer.[PMID 18771913]
[PMID 21622940] Single Nucleotide Polymorphisms in DNA Repair Genes and Association with Breast Cancer Risk in the WEB Study
[PMID 21739480] Potentially functional polymorphisms in DNA repair genes and non-small-cell lung cancer survival: A pathway-based analysis
[PMID 16465622] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control 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 18547414] Genotyping panel for assessing response to cancer chemotherapy.
[PMID 18701435] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
[PMID 18711149] Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma.
[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 21273643] In vitro functional effects of XPC gene rare variants from bladder cancer patients.
[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 24264314] Association between CCND1 and XPC polymorphisms and bladder cancer risk: a meta-analysis based on 15 case-control studies
[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.
|Disease||not specified Xeroderma pigmentosum|
|CLNDBN||not specified Xeroderma pigmentosum|
[PMID 25759212] A distinct and replicable variant of the squamous cell carcinoma gene inositol polyphosphate-5-phosphatase modifies the susceptibility of arsenic-associated skin lesions in Bangladesh
[PMID 26339355] Genetic polymorphisms in nucleotide excision repair pathway influences response to chemotherapy and overall survival in osteosarcoma
[PMID 27248495] Study of Association between Pre-Senile Cataracts and the Polymorphisms rs2228000 in XPC and rs1042522 in p53 in Spanish Population.
[PMID 28467961] Detection of nasopharyngeal carcinoma susceptibility with single nucleotide polymorphism analysis using next-generation sequencing technology.
[PMID 28735743] Exposure to meat-derived carcinogens and bulky DNA adduct levels in normal-appearing colon mucosa.
[PMID 28881764] Detection of nasopharyngeal carcinoma susceptibility with single nucleotide polymorphism analysis using next-generation sequencing technology.