rs25487
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (A;A) | 2 | 0.7x lower risk for skin cancer |
| (A;G) | 2 | 2x higher risk for skin cancer; possibly other cancers |
| (G;G) | 2 | 2x higher risk for skin cancer; possibly other cancers |
| Reference | GRCh38 38.1/141 |
| Chromosome | 19 |
| Position | 43551574 |
| Gene | XRCC1 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs25487 |
| dbSNP (classic) | rs25487 |
| ClinGen | rs25487 |
| ebi | rs25487 |
| HLI | rs25487 |
| Exac | rs25487 |
| Gnomad | rs25487 |
| Varsome | rs25487 |
| LitVar | rs25487 |
| Map | rs25487 |
| PheGenI | rs25487 |
| Biobank | rs25487 |
| 1000 genomes | rs25487 |
| hgdp | rs25487 |
| ensembl | rs25487 |
| geneview | rs25487 |
| scholar | rs25487 |
| rs25487 | |
| pharmgkb | rs25487 |
| gwascentral | rs25487 |
| openSNP | rs25487 |
| 23andMe | rs25487 |
| SNPshot | rs25487 |
| SNPdbe | rs25487 |
| MSV3d | rs25487 |
| GWAS Ctlg | rs25487 |
| GMAF | 0.2631 |
| Max Magnitude | 2 |
| ? | (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 meta-analysis of 10+ studies found that rs25487(G) carriers had increased childhood risk of acute lymphoblastic leukemia among Asians under the dominant (odds ratio 2.11, CI: 1.50–2.97, p<0.0001) as well as other models. No association was found in Caucasians between rs25487 and risk of either myeloid or lymphocytic leukemia.[PMID 26609240
]
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]
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.
[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 21617750] XRCC1 and XPD DNA repair gene polymorphisms: A potential risk factor for glaucoma in the Pakistani population
[PMID 21622940] 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 16465622] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
[PMID 16857995] Risk of non-Hodgkin lymphoma (NHL) in relation to germline variation in DNA repair and related genes.
[PMID 16931584] Multiplex pyrosequencing of two polymorphisms in DNA repair gene XRCC1.
[PMID 17267408] Allelic imbalance in gene expression as a guide to cis-acting regulatory single nucleotide polymorphisms in cancer cells.
[PMID 17425776] DNA repair gene XRCC1 polymorphisms and bladder cancer risk.
[PMID 17705814] 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] 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] Do genetic factors protect for early onset lung cancer? A case control study before the age of 50 years.
[PMID 18544627] Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.
[PMID 18547414] 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] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
[PMID 18765826] Genetic variants associated with carboplatin-induced cytotoxicity in cell lines derived from Africans.
[PMID 18823566] Association of MUTYH Gln324His and APEX1 Asp148Glu with colorectal cancer and smoking in a Japanese population.
[PMID 18936436] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.
[PMID 18990748] International Lung Cancer Consortium: pooled analysis of sequence variants in DNA repair and cell cycle pathways.
[PMID 19098027] SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms.
[PMID 19124499] Association and interactions between DNA repair gene polymorphisms and adult glioma.
[PMID 19174490] Tobacco and estrogen metabolic polymorphisms and risk of non-small cell lung cancer in women.
[PMID 19230024] Smoking modifies the relationship between XRCC1 haplotypes and HPV16-negative head and neck squamous cell carcinoma.
[PMID 19274602] Gene-environment interactions between DNA repair polymorphisms and exposure to the carcinogen vinyl chloride.
[PMID 19318434] Associations between polymorphisms in DNA repair genes and glioblastoma.
[PMID 19367277] Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer.
[PMID 19536092] Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.
[PMID 19604089] Pharmacodynamic genes do not influence risk of neutropenia in cancer patients treated with moderately high-dose irinotecan.
[PMID 19706757] Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder cancer.
[PMID 20003463] Association between polymorphisms in DNA repair genes and survival of non-smoking female patients with lung adenocarcinoma.
[PMID 20066159] 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] 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] 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] Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes.
[PMID 21364592] CYP2A6 and ERCC1 polymorphisms correlate with efficacy of S-1 plus cisplatin in metastatic gastric cancer patients.
[PMID 21420246] 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] 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] 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.
[PMID 22850545] 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 23936089] 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.
[PMID 24922669] XRCC1 rs25487 Polymorphism Predicts the Survival of Patients After Postoperative Radiotherapy and Adjuvant Chemotherapy for Breast Cancer
[PMID 24172093] Polymorphisms in base excision repair genes are associated with endometrial cancer risk among postmenopausal Japanese women
[PMID 25130814] [Association of XRCC1 Genetic Polymorphism with Susceptibility to Non-Hodgkin's Lymphoma]
[PMID 23959014] DNA Repair Genes XRCC1, XRCC3, XPD, and OGG1 Polymorphisms among the Central Region Population of Saudi Arabia
[PMID 25563194] XRCC1 genetic polymorphism acts a potential biomarker for lung cancer
[PMID 25715450] [DNA repair XRCC1, XPD genes polymorphism as associated with the development of bladder cancer and renal cell carcinoma]
[PMID 25873778] XRCC1 and XPD genetic polymorphisms and susceptibility to age-related cataract: A meta-analysis
[PMID 25998844] Variants of Base Excision Repair Genes MUTYH , PARP1 and XRCC1 in Alzheimer's Disease Risk
[PMID 26159902] DNA Repair Gene Polymorphisms in Relation to Non-Small Cell Lung Cancer Survival
[PMID 26314858] Influences of ERCC1, ERCC2, XRCC1, GSTP1, GSTT1, and MTHFR polymorphisms on clinical outcomes in gastric cancer patients treated with EOF chemotherapy
[PMID 26475344] CYP39A1 polymorphism is associated with toxicity during intensive induction chemotherapy in patients with advanced head and neck cancer
[PMID 26519348] The XRCC1 rs25487 genetic variant and TP53 mutation at codon 249 predict clinical outcomes of HBV-related hepatocellular carcinoma after hepatectomy: A cohort study for 10 years follow-up
[PMID 26590607] The relationship between five non-synonymous polymorphisms within three XRCC genes and gastric cancer risk in a Han Chinese population
[PMID 26634519] XRCC1 rs25487 polymorphism is associated with lung cancer risk in epidemiologically susceptible Chinese people.
[PMID 25262700] X-ray repair cross-complementing group 1 (XRCC1) Arg399Gln polymorphism significantly associated with prostate cancer.
[PMID 26843108] A Comprehensive Meta-analysis of Genetic Associations Between Key Polymorphic Loci in DNA Repair Genes and Glioma Risk.
[PMID 26925658] Association of CYP2E1, STK15 and XRCC1 Polymorphisms with Risk of Breast Cancer in Malaysian Women.
[PMID 26938431] Association Studies Between XRCC1, XRCC2, XRCC3 Polymorphisms and Differentiated Thyroid Carcinoma.
[PMID 27668351] Study of association between pre-senile cataracts and rs11615 of ERCC1, rs13181 of ERCC2, and rs25487 of XRCC1 polymorphisms in a Spanish population.
[PMID 27688118] Single nucleotide polymorphisms as markers of genetic susceptibility for oral potentially malignant disorders risk: Review of evidence to date.
| ClinVar | |
|---|---|
| Risk | Rs25487(G;G) |
| Alt | Rs25487(G;G) |
| Reference | Rs25487(A;A) |
| Significance | Drug-response |
| Disease | carboplatin response - Efficacy platinum response - Efficacy Platinum compounds response - Efficacy cisplatin response - Efficacy oxaliplatin response - Efficacy |
| Variation | info |
| Gene | XRCC1 |
| CLNDBN | carboplatin response - Efficacy, Toxicity/ADR platinum response - Efficacy, Toxicity/ADR Platinum compounds response - Efficacy, Toxicity/ADR cisplatin response - Efficacy, Toxicity/ADR oxaliplatin response - Efficacy, Toxicity/ADR |
| Reversed | 1 |
| HGVS | NC_000019.9:g.44055726T>C |
| CLNSRC | PharmGKB Clinical Annotation |
| CLNACC | RCV000211186.1, RCV000211213.1, RCV000211303.1, RCV000211309.1, RCV000211393.1, |
[PMID 28058700] XRCC1 Arg399Gln gene polymorphism and hepatocellular carcinoma risk in the Italian population.
[PMID 28351583] Candidate apoptotic and DNA repair gene approach confirms involvement of ERCC1, ERCC5, TP53 and MDM2 in radiation-induced toxicity in head and neck cancer.
[PMID 28405167] Genetic variants and increased risk of meningioma: an updated meta-analysis.
[PMID 29416669] Association of DNA repair gene polymorphisms with the risk of radiation pneumonitis in lung cancer patients.
[PMID 29552790] Haplotype analysis of XRCC1 gene polymorphisms and the risk of thyroid carcinoma.
[PMID 30616520] Interaction between TP53 and XRCC1 increases susceptibility to cervical cancer development: a case control study.
[PMID 33507988] Influence of single nucleotide polymorphisms among cigarette smoking and non-smoking patients with coronary artery disease, urinary bladder cancer and lung cancer.
