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rs2228001

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A)
(A;C) normal
(C;C) 0 normal
ReferenceGRCh38 38.1/141
Chromosome3
Position14145949
GeneXPC
is asnp
is mentioned by
dbSNPrs2228001
ebirs2228001
HLIrs2228001
Exacrs2228001
Varsomers2228001
Maprs2228001
PheGenIrs2228001
hapmaprs2228001
1000 genomesrs2228001
hgdprs2228001
ensemblrs2228001
gopubmedrs2228001
geneviewrs2228001
scholarrs2228001
googlers2228001
pharmgkbrs2228001
gwascentralrs2228001
openSNPrs2228001
23andMers2228001
23andMe allrs2228001
SNP Nexus

SNPshotrs2228001
SNPdbers2228001
MSV3drs2228001
GWAS Ctlgrs2228001
GMAF0.3439
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
XPC-Q939K
aa_change Gln939Lys
aa_change_short Q939K
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.642579
summary



[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


ClinVar
Risk rs2228001(A;A)
Alt rs2228001(A;A)
Reference rs2228001(C;C)
Significance Drug-response
Disease not specified cisplatin response - Toxicity/ADR
Variation info
Gene XPC
CLNDBN not specified cisplatin response - Toxicity/ADR
Reversed 1
HGVS NC_000003.11:g.14187449G>T
CLNSRC PharmGKB Clinical Annotation PharmGKB
CLNACC RCV000170436.1, RCV000211268.1,



[PMID 26339355OA-icon.png] Genetic polymorphisms in nucleotide excision repair pathway influences response to chemotherapy and overall survival in osteosarcoma