{{Rsnum
|rsid=25487
|Gene=XRCC1
|Chromosome=19
|position=43551574
|Orientation=minus
|ReferenceAllele=A
|MissenseAllele=G
|GMAF=0.2631
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=XRCC1
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 11.6 | 50.0 | 38.4
| HCB | 5.9 | 38.5 | 55.6
| JPT | 8.0 | 38.1 | 54.0
| YRI | 0.0 | 21.1 | 78.9
| ASW | 1.8 | 31.6 | 66.7
| CHB | 5.9 | 38.5 | 55.6
| CHD | 6.4 | 44.0 | 49.5
| GIH | 13.9 | 51.5 | 34.7
| LWK | 0.9 | 18.3 | 80.7
| MEX | 7.0 | 47.4 | 45.6
| MKK | 1.9 | 33.3 | 64.7
| TSI | 9.8 | 52.9 | 37.3
| HapMapRevision=28
}}[[rs25487]] is a SNP also known as Gln399Arg, located in the DNA repair gene [[XRCC1]]. The (A) allele encodes the Gln amino acid.

In one study of ~1000 Caucasians, the [[rs25487]](A;A) genotype had significantly reduced risk of both basal cell [BCC; odds ratio 0.7, CI: 0.4-1.0] and squamous cell [[cancer]] (SCC; odds ratio 0.6, CI: 0.3-0.9).{{PMID|11782372}}

In a study of ~300 Koreans, [[rs25487]](A;G) and (G;G) genotypes had an approximately 2-fold increased risk of basal cell cancer compared to [[rs25487]](A;A) individuals (adjusted odds ratio 2.324, CI: 1.11-4.86, respectively).{{PMID|17355263}}

A small study (113 cases) of Hispanics with non-small cell [[lung cancer]] found an odds ratio of 1.52 per [[rs25487]](A) allele  (CI: 1.01-2.28). {{PMID|19029194|OA=1
}}

A study of 200 patients with [[Hodgkin disease]] compared to controls concluded that some risk was associated with this SNP, along with SNPs in other genes involved in DNA repair genes. [[rs25487]](A;G) individuals were at 1.77x increased risk (CI: 1.16-2.71) for the disease.{{doi|10.1002/cncr.24205}}

{{PMID|21216841}} A meta-analysis concludes that this SNP is not associated with risk of gastric cancer.

{{ neighbor
| rsid = 25489
| distance = 686
}}

{{PMID Auto
|PMID=19266243
|Title=Single-Nucleotide Polymorphisms of DNA Repair Genes OGG1 and XRCC1: Association with Gallbladder Cancer in North Indian Population
}}

{{PMID Auto
|PMID=17767850
|Title=Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer: a case-control study
}}

{{PMID Auto
|PMID=19707910
|Title=Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis
}}
{{PMID Auto
|PMID=19484764
|Title=DNA repair polymorphisms associated with cytogenetic subgroups in B-cell chronic lymphocytic leukemia
}}
{{PMID Auto
|PMID=19880550
|Title=Polymorphisms in the DNA repair gene XRCC1 and associations with systemic lupus erythematosus risk in the Taiwanese Han Chinese population
}}

{{PharmGKB
|RSID=rs25487
|Name_s=XRCC1:Arg399Gln; XRCC1 Arg399Gln
|Gene_s=XRCC1
|Feature=
|Evidence=PubMed ID:19786980
|Annotation=In a study of ovarian cancer patients (n=104) receiving a cisplatin-cyclophosphamide regimen, the XRCC1:399Arg/Arg (G/G) genotype was associated with severe neutropenia.
|Drugs=cisplatin; cyclophosphamide
|Drug Classes=
|Diseases=Neutropenia
|Curation Level=Curated
|PharmGKB Accession ID=PA165107201
}}

{{PMID Auto
|PMID=20334523
|Title=Association between Normal Tissue Complications after Radiotherapy and Polymorphic Variations in TGFB1 and XRCC1 Genes
}}
{{PMID Auto
|PMID=20863523
|Title=XRCC1 Gene Polymorphism for Prediction of Response and Prognosis in the Multimodality Therapy of Patients with Locally Advanced Rectal Cancer
}}

{{PMID Auto
|PMID=21419115
|Title=DNA Repair Gene ERCC2 Polymorphisms and Risk of Squamous Cell Carcinoma of the Head and Neck
}}

{{PMID Auto
|PMID=21463129
|Title=An XRCC1 polymorphism is associated with the outcome of patients with lymphoma undergoing autologous stem cell transplant
}}

{{PMID Auto
|PMID=21612998
|Title=No association of XRCC1 polymorphisms Arg194Trp and Arg399Gln with colorectal cancer risk
}}

{{PMID Auto
|PMID=21617750
|Title=XRCC1 and XPD DNA repair gene polymorphisms: A potential risk factor for glaucoma in the Pakistani population
|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=21739480
|Title=Potentially functional polymorphisms in DNA repair genes and non-small-cell lung cancer survival: A pathway-based analysis
}}

{{PMID Auto
|PMID=22659345
|Title=Polymorphisms of DNA repair genes in Korean hepatocellular carcinoma patients with chronic hepatitis B: possible implications on survival
}}

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

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

{{PMID|16931584|OA=1
}} Multiplex pyrosequencing of two polymorphisms in DNA repair gene XRCC1.

{{PMID|17267408|OA=1
}} Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.

{{PMID|17425776|OA=1
}} DNA repair gene XRCC1 polymorphisms and bladder cancer risk.

{{PMID|17705814|OA=1
}} Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of northern Spain.

{{PMID|17984110}} Selected base excision repair gene polymorphisms and susceptibility to biliary tract cancer and biliary stones: a population-based case-control study in China.

{{PMID|18188695}} Genetic polymorphisms in the DNA repair genes XRCC1, XRCC2 and XRCC3 and risk of breast cancer in Cyprus.

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

{{PMID|18214807}} Association of the NQO1, MPO, and XRCC1 polymorphisms and chromosome damage among workers at a petroleum refinery.

{{PMID|18298806|OA=1
}} Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.

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

{{PMID|18547414|OA=1
}} Genotyping panel for assessing response to cancer chemotherapy.

{{PMID|18669164}} Association of polymorphisms in base excision repair genes with the risk of breast cancer: a case-control study in North Indian women.

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

{{PMID|18765826|OA=1
}} Genetic variants associated with carboplatin-induced cytotoxicity in cell lines derived from Africans.

{{PMID|18823566|OA=1
}} Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population.

{{PMID|18936436|OA=1
}} Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

{{PMID|18990748|OA=1
}} International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.

{{PMID|19098027|OA=1
}} SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms.

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

{{PMID|19174490|OA=1
}} Tobacco and estrogen metabolic polymorphisms and risk of non-small cell lung cancer in women.

{{PMID|19230024|OA=1
}} Smoking modifies the relationship between XRCC1 haplotypes and HPV16-negative head and neck squamous cell carcinoma.

{{PMID|19274602|OA=1
}} Gene-environment interactions between DNA repair polymorphisms and exposure to the carcinogen vinyl chloride.

{{PMID|19318434|OA=1
}} Associations between polymorphisms in DNA repair genes and glioblastoma.

{{PMID|19367277|OA=1
}} Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer.

{{PMID|19536092|OA=1
}} Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.

{{PMID|19604089|OA=1
}} Pharmacodynamic genes do not influence risk of neutropenia in cancer patients treated with moderately high-dose irinotecan.

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

{{PMID|20003463|OA=1
}} Association between polymorphisms in DNA repair genes and survival of non-smoking female patients with lung adenocarcinoma.

{{PMID|20066159|OA=1
}} MMP9 but Not EGFR, MET, ERCC1, P16, and P-53 Is Associated with Response to Concomitant Radiotherapy, Cetuximab, and Weekly Cisplatin in Patients with Locally Advanced Head and Neck Cancer.

{{PMID|20442803|OA=1
}} XRCC1 polymorphisms and breast cancer risk from the New York Site of the Breast Cancer Family Registry: A family-based case-control study.

{{PMID|20577654|OA=1
}} XRCC1, but not APE1 and hOGG1 gene polymorphisms is a risk factor for pterygium.

{{PMID|21183201}} DNA repair gene polymorphisms at XRCC1, XRCC3, XPD, and OGG1 loci in Maharashtrian population of central India.

{{PMID|21195504}} Association of genetic polymorphisms in DNA repair pathway genes with non-small cell lung cancer risk.

{{PMID|21283657|OA=1
}} Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes.

{{PMID|21364592|OA=1
}} CYP2A6 and ERCC1 polymorphisms correlate with efficacy of S-1 plus cisplatin in metastatic gastric cancer patients.

{{PMID|21420246|OA=1
}} Functional polymorphisms of base excision repair genes XRCC1 and APEX1 predict risk of radiation pneumonitis in patients with non-small cell lung cancer treated with definitive radiation therapy.

{{PMID|21423097}} Polymorphisms of the DNA repair genes XRCC1 and ERCC4 are not associated with smoking- and drinking-dependent larynx cancer in a Polish population.

{{PMID|21427728|OA=1
}} Evaluation of the XRCC1 gene as a phenotypic modifier in BRCA1/2 mutation carriers. Results from the consortium of investigators of modifiers of BRCA1/BRCA2.

{{PMID|21561390}} Association of APE1 and hOGG1 polymorphisms with colorectal cancer risk in a Turkish population.

{{PMID|21682595|OA=1
}} XRCC1 Arg399Gln gene polymorphism and the risk of systemic lupus erythematosus in the Polish population.

{{PMID|21741876}} Polymorphisms in tobacco metabolism and DNA repair genes modulate oral precancer and cancer risk.

{{PMID|21974800}} DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome.

{{PMID|22076708}} Validation of genetic sequence variants as prognostic factors in early-stage head and neck squamous cell cancer survival.

{{PMID|22525558}} Genetic polymorphisms involved in carcinogen metabolism and DNA repair and lung cancer risk in a Japanese population.

{{PMID|22687647}} Polymorphisms in base excision DNA repair genes and association with melanoma risk in a pilot study on Central-South Italian population.

{{GET Evidence
|gene=XRCC1
|aa_change=Gln399Arg
|aa_change_short=Q399R
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs25487
|overall_frequency_n=7667
|overall_frequency_d=10758
|overall_frequency=0.712679
|n_genomes=53
|n_genomes_annotated=0
|n_haplomes=88
|n_articles=0
|n_articles_annotated=0
|nblosum100=0
|autoscore=0
|webscore=N
}}

{{PMID Auto
|PMID=22850545
|Title=Selected polymorphisms of base excision repair genes and pancreatic cancer risk in Japanese
|OA=1
}}

{{PMID Auto
|PMID=23684781
|Title=Phase II Study of Satraplatin and Prednisone in Patients With Metastatic Castration-Resistant Prostate Cancer: A Pharmacogenetic Assessment of Outcome and Toxicity
}}

{{PMID Auto
|PMID=23807675
|Title=Association between X-ray repair cross-complementation group 1 rs25487 polymorphism and pancreatic cancer risk
}}

{{PMID Auto
|PMID=23886187
|Title=Association of XRCC1 Gene Polymorphisms with Breast Cancer Susceptibility in Saudi Patients
}}

{{PMID Auto
|PMID=23892592
|Title=Association of Genetic Variants in CDK6 and XRCC1 with The Risk of Dysplastic Nevi in Melanoma-Prone Families
}}

{{PMID Auto
|PMID=23936089
|Title=Polymorphisms in DNA-Repair Genes in a Cohort of Prostate Cancer Patients from Different Areas in Spain: Heterogeneity between Populations as a Confounding Factor in Association Studies
|OA=1
}}

{{PMID Auto
|PMID=24084248
|Title=The GSTM1null (deletion) and MGMT84 rs12917 (Phe/Phe) haplotype are associated with bulky DNA adduct levels in human leukocytes
}}

{{PMID Auto
|PMID=24103542
|Title=High-throughput genotyping system as a robust and useful tool in oncology: Experience from a single institution
}}

{{PMID Auto
|PMID=24224851
|Title=XRCC1 polymorphism and prognosis of platinum-based chemotherapy in gastric and colorectal cancer: a meta-analysis
}}

{{PMID Auto
|PMID=24325908
|Title=Analysis of dna repair gene polymorphisms in glioblastoma
}}

{{PMID Auto
|PMID=24500421
|Title=Association between DNA repair gene polymorphisms and risk of glioma: A systematic review and meta-analysis
}}

{{PMID Auto
|PMID=23271134
|Title=Association between XRCC1 and XRCC3 polymorphisms and colorectal cancer risk: a meta-analysis of 23 case-control studies.
}}

{{PMID Auto
|PMID=23313170
|Title=Analysis of single nucleotide polymorphisms and radiation sensitivity of the lung assessed with an objective radiologic endpoin.
|OA=1
}}

{{PMID Auto
|PMID=24922669
|Title=XRCC1 rs25487 Polymorphism Predicts the Survival of Patients After Postoperative Radiotherapy and Adjuvant Chemotherapy for Breast Cancer
}}

{{PMID Auto
|PMID=24172093
|Title=Polymorphisms in base excision repair genes are associated with endometrial cancer risk among postmenopausal Japanese women
}}

{{PMID Auto
|PMID=25130814
|Title=[Association of XRCC1 Genetic Polymorphism with Susceptibility to Non-Hodgkin's Lymphoma]
}}

{{PMID Auto
|PMID=23959014
|Title=DNA Repair Genes XRCC1, XRCC3, XPD, and OGG1 Polymorphisms among the Central Region Population of Saudi Arabia
}}
{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | Illumina Human 1M}}