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rs25489

From SNPedia

Orientationminus
Stabilizedminus
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
Chromosome19
Position43552260
GeneXRCC1
is asnp
is mentioned by
dbSNPrs25489
ebirs25489
HLIrs25489
Exacrs25489
Varsomers25489
Maprs25489
PheGenIrs25489
hapmaprs25489
1000 genomesrs25489
hgdprs25489
ensemblrs25489
gopubmedrs25489
geneviewrs25489
scholarrs25489
googlers25489
pharmgkbrs25489
gwascentralrs25489
openSNPrs25489
23andMers25489
23andMe allrs25489
SNP Nexus

SNPshotrs25489
SNPdbers25489
MSV3drs25489
GWAS Ctlgrs25489
GMAF0.06061
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.

Neighborrs25487
Distance686


[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
XRCC1-R280H
aa_change Arg280His
aa_change_short R280H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0430938
summary



[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.