{{Rsnum
|rsid=2228001
|Gene=XPC
|Chromosome=3
|position=14145949
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=C
|GMAF=0.3439
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;C)
|geno3=(C;C)
|Gene_s=XPC
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;C)
| geno3=(C;C)
| CEU | 35.4 | 47.8 | 16.8
| HCB | 38.7 | 48.2 | 13.1
| JPT | 44.2 | 42.5 | 13.3
| YRI | 51.7 | 41.5 | 6.8
| ASW | 47.4 | 42.1 | 10.5
| CHB | 38.7 | 48.2 | 13.1
| CHD | 44.0 | 50.5 | 5.5
| GIH | 37.6 | 57.4 | 5.0
| LWK | 55.5 | 35.5 | 9.1
| MEX | 44.8 | 53.4 | 1.7
| MKK | 69.7 | 25.8 | 4.5
| TSI | 34.3 | 43.1 | 22.5
| HapMapRevision=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}}

{{PharmGKB
|RSID=rs2228001
|Name_s=rs2228001 A/C XPC
|Gene_s=TMEM43, XPC
|Feature=
|Evidence=PubMed ID:20157331
|Annotation=Risk or phenotype-associated allele: Not specified. Phenotype: This SNP was associated with clearance of docetaxel. Study size: 31. Study population/ethnicity: Patients with Non-Small-Cell Lung Carcinoma. Significance metric(s): p = 0.0045 (ANOVA); p = 0.052 (QMIS); p = 0.0004 (KW) Type of association: PK.
|Drugs=docetaxel
|Drug Classes=
|Diseases=
|Curation Level=Curated
|PharmGKB Accession ID=PA165291795
}}
{{PMID Auto
|PMID=20056640
|Title=Genetic variants of nucleotide excision repair genes are associated with DNA damage in coke oven workers
}}

{{PharmGKB
|RSID=rs2228001
|Name_s=XPC:Lys939Gln; XPC Lys939Gln; rs2228001:A>C
|Gene_s=TMEM43, XPC
|Feature=
|Evidence=PubMed ID:19434073
|Annotation=Risk or phenotype-associated allele: C. Phenotype: A marginally significant association was reported for ototoxicity for the CC genotype of XPC:Lys939Gln. Study size: 32. Study population/ethnicity: Patients with osteosarcoma with cisplatin induced ototoxicity; Spain. Significance metric(s): OR = 17.16; 95% CI=1.10-266.8; p = 0.042. Type of association: CO.
|Drugs=cisplatin
|Drug Classes=
|Diseases=Osteosarcoma; Ototoxicity
|Curation Level=Curated
|PharmGKB Accession ID=PA165109606
}}

{{PMID Auto
|PMID=21426550
|Title=The effect of tobacco, XPC, ERCC2 and ERCC5 genetic variants in bladder cancer development
|OA=1
}}

{{PMID Auto
|PMID=21622940
|Title=Single Nucleotide Polymorphisms in DNA Repair Genes and Association with Breast Cancer Risk in the WEB Study
|OA=1
}}

{{PMID Auto
|PMID=16465622
|Title=Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
|OA=1
}}

{{PMID Auto
|PMID=16857995
|Title=Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
|OA=1
}}

{{PMID Auto
|PMID=17498315
|Title=Sequence variations in DNA repair gene XPC is associated with lung cancer risk in a Chinese population: a case-control study.
|OA=1
}}

{{PMID Auto
|PMID=18191955
|Title=Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
|OA=1
}}

{{PMID Auto
|PMID=18544627
|Title=Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.
|OA=1
}}

{{PMID Auto
|PMID=18701435
|Title=Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
|OA=1
}}

{{PMID Auto
|PMID=18709642
|Title=Nucleotide excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African Americans.
|OA=1
}}

{{PMID Auto
|PMID=18711149
|Title=Case-control analysis of nucleotide excision repair pathway and the risk of renal cell carcinoma.
|OA=1
}}

{{PMID Auto
|PMID=18838045
|Title=Inter-individual variation in nucleotide excision repair in young adults: effects of age, adiposity, micronutrient supplementation and genotype.
}}

{{PMID Auto
|PMID=18854777
|Title=Germline genetic variations in drug action pathways predict clinical outcomes in advanced lung cancer treated with platinum-based chemotherapy.
|OA=1
}}

{{PMID Auto
|PMID=19124499
|Title=Association and interactions between DNA repair gene polymorphisms and adult glioma.
|OA=1
}}

{{PMID Auto
|PMID=19270000
|Title=Genetic susceptibility to esophageal cancer: the role of the nucleotide excision repair pathway.
|OA=1
}}

{{PMID Auto
|PMID=19706757
|Title=Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer.
|OA=1
}}

{{PMID Auto
|PMID=20141440
|Title=Acute myeloid leukemia outcome: role of nucleotide excision repair polymorphisms in intermediate risk patients.
|OA=1
}}

{{PMID Auto
|PMID=21324488
|Title=Single nucleotide polymorphisms in tobacco metabolism and DNA repair genes and prognosis in resected non-small-cell lung cancer.
}}

{{GET Evidence
|gene=XPC
|aa_change=Gln939Lys
|aa_change_short=Q939K
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs2228001
|overall_frequency_n=6260
|overall_frequency_d=9742
|overall_frequency=0.642579
|n_genomes=27
|n_genomes_annotated=0
|n_haplomes=39
|n_articles=0
|n_articles_annotated=0
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-2
|autoscore=2
|webscore=N
}}

{{PMID Auto
|PMID=23335232
|Title=Variants in nucleotide excision repair core genes and susceptibility to recurrence of squamous cell carcinoma of the oropharynx
}}

{{PMID Auto
|PMID=23400628
|Title=Associations of Lys939Gln and Ala499Val polymorphisms of the XPC gene with cancer susceptibility: a meta-analysis
}}

{{PMID Auto
|PMID=24552298
|Title=Association Between Six Genetic Polymorphisms and Colorectal Cancer: A Meta-Analysis
}}

{{PMID Auto
|PMID=22902050
|Title=Using haplotype analysis to elucidate significant associations between genes and Hodgkin lymphoma.
|OA=1
}}

{{PMID Auto
|PMID=23175176
|Title=Variation in PAH-related DNA adduct levels among non-smokers: the role of multiple genetic polymorphisms and nucleotide excision repair phenotype.
}}

{{PMID Auto
|PMID=23436679
|Title=Xeroderma pigmentosum genes and melanoma risk.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}