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From SNPedia

Geno Mag Summary
(A;A) 4.68x higher risk for breast cancer
(A;G) normal risk
(G;G) 0 normal risk
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
1000 genomesrs25489
23andMe allrs25489
SNP Nexus

GWAS Ctlgrs25489
Max Magnitude0
? (A;A) (A;G) (G;G) 28
rs25489, a SNP also known as Arg280His located in the DNA-repair gene XRCC1, is associated with an increased risk for breast cancer based on a study of 1,100 Cypriot women. The odds ratio for the rs25489(A;A) homozygote is 4.68, CI: 1.01-21.7, p=0.03.[PMID 18188695]

rs25489(A;G) prostate cancer patients being treated by radiation therapy are more likely (67% compared to 24%, p=0.048) to develop erectile dysfunction after irradiation than (G;G) patients, based on a study of 135 patients.[PMID 18582155]

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


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

[PMID 15113441OA-icon.png] Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.

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

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

[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 18191955OA-icon.png] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.

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

[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 19029194OA-icon.png] Base excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African-Americans.

[PMID 19138047OA-icon.png] Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.

[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 19367277OA-icon.png] Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast 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 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 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 22687647] Polymorphisms in base excision DNA repair genes and association with melanoma risk in a pilot study on Central-South Italian population.

GET Evidence
aa_change Arg280His
aa_change_short R280H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0430938

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

[PMID 24500421OA-icon.png] 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 25130814] [Association of XRCC1 Genetic Polymorphism with Susceptibility to Non-Hodgkin's Lymphoma]

[PMID 25703835] Genetic variants in the DNA repair gene NEIL3 and the risk of myocardial infarction in a nested case-control study. The HUNT Study

[PMID 25715450] [DNA repair XRCC1, XPD genes polymorphism as associated with the development of bladder cancer and renal cell carcinoma]

[PMID 26314858] Influences of ERCC1, ERCC2, XRCC1, GSTP1, GSTT1, and MTHFR polymorphisms on clinical outcomes in gastric cancer patients treated with EOF chemotherapy

[PMID 26585352] Associations between circulating carotenoids, genomic instability and the risk of high-grade prostate cancer

[PMID 26590607] The relationship between five non-synonymous polymorphisms within three XRCC genes and gastric cancer risk in a Han Chinese population

[PMID 26843108] A Comprehensive Meta-analysis of Genetic Associations Between Key Polymorphic Loci in DNA Repair Genes and Glioma Risk.

[PMID 26938431] Association Studies Between XRCC1, XRCC2, XRCC3 Polymorphisms and Differentiated Thyroid Carcinoma.