Rs25487

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dbSNPrs25487
hapmaprs25487
hgdprs25487
ensemblrs25487
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scholarrs25487
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hgvbaseg2prs25487
medrefsnprs25487
23andMers25487
SNP Nexus

GeneXRCC1
Chromosome19
Orientationminus
Position48747565
GenotypeEffect
rs25487(A;A)0.7x lower risk for skin cancer
rs25487(A;G)2x higher risk for skin cancer
rs25487(G;G)2x higher risk for skin cancer


Genotypes Magnitude Summary
Rs25487(A;A) 0.7x lower risk for skin cancer
Rs25487(A;G) 2x higher risk for skin cancer
Rs25487(G;G) 2x higher risk for skin cancer
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]

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

Neighborrs25489
Distance686
? (A;A) (A;G) (G;G)


[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

PharmGKBPA165107201
NameXRCC1:Arg399Gln, XRCC1 Arg399Gln
AnnotationIn 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.
GeneXRCC1
Featue
EvidencePubMed ID:19786980
Drugscisplatin, cyclophosphamide
DiseasesNeutropenia
Curation LevelCurated