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From SNPedia

Geno Mag Summary
(A;C) normal
(C;C) 0 normal
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (old)rs2228001
1000 genomesrs2228001
23andMe allrs2228001
SNP Nexus

GWAS Ctlgrs2228001
Max Magnitude0
? (A;A) (A;C) (C;C) 28
rs2228001, also known as Lys939Gln, K939Q, and K940Q, is a SNP in the DNA nuclear excision repair gene xeroderma pigmentosum complementation group C XPC gene. The Lys (K) allele is encoded by the rs2228001(A) allele.

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 21426550OA-icon.png] The effect of tobacco, XPC, ERCC2 and ERCC5 genetic variants in bladder cancer development

[PMID 21622940OA-icon.png] Single Nucleotide Polymorphisms in DNA Repair Genes and Association with Breast Cancer Risk in the WEB Study

[PMID 16465622OA-icon.png] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.

[PMID 16857995OA-icon.png] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.

[PMID 17498315OA-icon.png] Sequence variations in DNA repair gene XPC is associated with lung cancer risk in a Chinese population: a case-control study.

[PMID 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

[PMID 18544627OA-icon.png] Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.

[PMID 18701435OA-icon.png] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.

[PMID 18709642OA-icon.png] Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans.

[PMID 18711149OA-icon.png] 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 18854777OA-icon.png] Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.

[PMID 19124499OA-icon.png] Association and interactions between DNA repair gene polymorphisms and adult glioma.

[PMID 19270000OA-icon.png] Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway.

[PMID 19706757OA-icon.png] Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer.

[PMID 20141440OA-icon.png] 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.

GET Evidence
aa_change Gln939Lys
aa_change_short Q939K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.642579

[PMID 23335232OA-icon.png] 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 24552298OA-icon.png] Association Between Six Genetic Polymorphisms and Colorectal Cancer: A Meta-Analysis

[PMID 22902050OA-icon.png] Using haplotype analysis to elucidate significant associations between genes and Hodgkin lymphoma.

[PMID 23175176OA-icon.png] 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 25785113OA-icon.png] 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

Risk Rs2228001(A;A)
Alt Rs2228001(A;A)
Reference Rs2228001(C;C)
Significance Drug-response
Disease not specified cisplatin response - Toxicity/ADR Cardiomyopathy Xeroderma pigmentosum
Variation info
Gene XPC
CLNDBN not specified cisplatin response - Toxicity/ADR Cardiomyopathy, ARVC Xeroderma pigmentosum
Reversed 1
HGVS NC_000003.11:g.14187449G>T
CLNSRC PharmGKB Clinical Annotation UniProtKB (protein)
CLNACC RCV000170436.2, RCV000211268.1, RCV000331098.1, RCV000380504.1,

[PMID 26339355OA-icon.png] 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.

[PMID 28735743] Exposure to meat-derived carcinogens and bulky DNA adduct levels in normal-appearing colon mucosa.