Rs25487

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Orientationminus
is asnp
is mentioned by
dbSNPrs25487
PheGenIrs25487
nextbiors25487
hapmaprs25487
1000 genomesrs25487
hgdprs25487
ensemblrs25487
gopubmedrs25487
geneviewrs25487
scholarrs25487
googlers25487
pharmgkbrs25487
gwascentralrs25487
openSNPrs25487
23andMers25487
23andMe allrs25487
SNP Nexus

SNPshotrs25487
SNPdbers25487
MSV3drs25487
GeneXRCC1
Chromosome19
Orientationminus
GMAF0.2631
Position44055726
ReferenceGRCh37 37.1/131
Max Magnitude
Geno Mag Summary
(A;A) 0.7x lower risk for skin cancer
(A;G) 2x higher risk for skin cancer
(G;G) 2x higher risk for skin cancer
? (A;A) (A;G) (G;G) 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 19029194OA-icon.png]

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.10.1002/cncr.24205

[PMID 21216841] A meta-analysis concludes that this SNP is not associated with risk of gastric cancer.

Neighborrs25489
Distance686


[PMID 19266243] Single-Nucleotide Polymorphisms of DNA Repair Genes OGG1 and XRCC1: Association with Gallbladder Cancer in North Indian Population


[PMID 17767850] Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer: a case-control study


[PMID 19707910] Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis

[PMID 19484764] DNA repair polymorphisms associated with cytogenetic subgroups in B-cell chronic lymphocytic leukemia

[PMID 19880550] Polymorphisms in the DNA repair gene XRCC1 and associations with systemic lupus erythematosus risk in the Taiwanese Han Chinese population



[PMID 20334523] Association between Normal Tissue Complications after Radiotherapy and Polymorphic Variations in TGFB1 and XRCC1 Genes

[PMID 20863523] XRCC1 Gene Polymorphism for Prediction of Response and Prognosis in the Multimodality Therapy of Patients with Locally Advanced Rectal Cancer


[PMID 21419115] DNA Repair Gene ERCC2 Polymorphisms and Risk of Squamous Cell Carcinoma of the Head and Neck


[PMID 21463129] An XRCC1 polymorphism is associated with the outcome of patients with lymphoma undergoing autologous stem cell transplant


[PMID 21612998] No association of XRCC1 polymorphisms Arg194Trp and Arg399Gln with colorectal cancer risk


[PMID 21617750OA-icon.png] XRCC1 and XPD DNA repair gene polymorphisms: A potential risk factor for glaucoma in the Pakistani population


[PMID 21622940OA-icon.png] 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 22659345] Polymorphisms of DNA repair genes in Korean hepatocellular carcinoma patients with chronic hepatitis B: possible implications on survival

[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 16931584OA-icon.png] Multiplex pyrosequencing of two polymorphisms in DNA repair gene XRCC1.

[PMID 17267408OA-icon.png] Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.

[PMID 17425776OA-icon.png] DNA repair gene XRCC1 polymorphisms and bladder cancer risk.

[PMID 17705814OA-icon.png] 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 18191955OA-icon.png] 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 18298806OA-icon.png] Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.

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

[PMID 18547414OA-icon.png] 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 18701435OA-icon.png] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.

[PMID 18765826OA-icon.png] Genetic variants associated with carboplatin-induced cytotoxicity in cell lines derived from Africans.

[PMID 18823566OA-icon.png] Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population.

[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

[PMID 18990748OA-icon.png] International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.

[PMID 19098027OA-icon.png] SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms.

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

[PMID 19174490OA-icon.png] Tobacco and estrogen metabolic polymorphisms and risk of non-small cell lung cancer in women.

[PMID 19230024OA-icon.png] Smoking modifies the relationship between XRCC1 haplotypes and HPV16-negative head and neck squamous cell carcinoma.

[PMID 19274602OA-icon.png] Gene-environment interactions between DNA repair polymorphisms and exposure to the carcinogen vinyl chloride.

[PMID 19318434OA-icon.png] Associations between polymorphisms in DNA repair genes and glioblastoma.

[PMID 19367277OA-icon.png] Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer.

[PMID 19536092OA-icon.png] Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.

[PMID 19604089OA-icon.png] Pharmacodynamic genes do not influence risk of neutropenia in cancer patients treated with moderately high-dose irinotecan.

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

[PMID 20003463OA-icon.png] Association between polymorphisms in DNA repair genes and survival of non-smoking female patients with lung adenocarcinoma.

[PMID 20066159OA-icon.png] 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 20442803OA-icon.png] XRCC1 polymorphisms and breast cancer risk from the New York Site of the Breast Cancer Family Registry: A family-based case-control study.

[PMID 20577654OA-icon.png] 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 21283657OA-icon.png] Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes.

[PMID 21364592OA-icon.png] CYP2A6 and ERCC1 polymorphisms correlate with efficacy of S-1 plus cisplatin in metastatic gastric cancer patients.

[PMID 21420246OA-icon.png] 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 21427728OA-icon.png] 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 21682595OA-icon.png] 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
XRCC1-Q399R
aa_change Gln399Arg
aa_change_short Q399R
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.712679
summary



[PMID 22850545OA-icon.png] Selected polymorphisms of base excision repair genes and pancreatic cancer risk in Japanese


[PMID 23684781] Phase II Study of Satraplatin and Prednisone in Patients With Metastatic Castration-Resistant Prostate Cancer: A Pharmacogenetic Assessment of Outcome and Toxicity


[PMID 23807675] Association between X-ray repair cross-complementation group 1 rs25487 polymorphism and pancreatic cancer risk


[PMID 23886187] Association of XRCC1 Gene Polymorphisms with Breast Cancer Susceptibility in Saudi Patients


[PMID 23892592] Association of Genetic Variants in CDK6 and XRCC1 with The Risk of Dysplastic Nevi in Melanoma-Prone Families


[PMID 23936089OA-icon.png] 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


[PMID 24084248] The GSTM1null (deletion) and MGMT84 rs12917 (Phe/Phe) haplotype are associated with bulky DNA adduct levels in human leukocytes


[PMID 24103542] High-throughput genotyping system as a robust and useful tool in oncology: Experience from a single institution


[PMID 24224851] XRCC1 polymorphism and prognosis of platinum-based chemotherapy in gastric and colorectal cancer: a meta-analysis


[PMID 24325908] Analysis of dna repair gene polymorphisms in glioblastoma


[PMID 24500421] Association between DNA repair gene polymorphisms and risk of glioma: A systematic review and meta-analysis


[PMID 23271134] Association between XRCC1 and XRCC3 polymorphisms and colorectal cancer risk: a meta-analysis of 23 case-control studies.


[PMID 23313170] Analysis of single nucleotide polymorphisms and radiation sensitivity of the lung assessed with an objective radiologic endpoin.