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rs3218536

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 2 lower risk for breast, ovarian cancer
(A;G) 2 lower risk for breast, ovarian cancer
(G;G) normal risk
ReferenceGRCh38 38.1/141
Chromosome7
Position152648922
GeneXRCC2
is asnp
is mentioned by
dbSNPrs3218536
ebirs3218536
HLIrs3218536
Exacrs3218536
Varsomers3218536
Maprs3218536
PheGenIrs3218536
hapmaprs3218536
1000 genomesrs3218536
hgdprs3218536
ensemblrs3218536
gopubmedrs3218536
geneviewrs3218536
scholarrs3218536
googlers3218536
pharmgkbrs3218536
gwascentralrs3218536
openSNPrs3218536
23andMers3218536
23andMe allrs3218536
SNP Nexus

SNPshotrs3218536
SNPdbers3218536
MSV3drs3218536
GWAS Ctlgrs3218536
GMAF0.0427
Max Magnitude2
? (A;A) (A;G) (G;G) 28
rs3218536, a relatively rare SNP also known as Arg188His located in the DNA-repair gene XRCC2, is associated with a lowered risk for breast cancer based on a study of 1,100 Cypriot women. The odds ratio for the His-encoding rs3218536(A) allele carriers is homozygote is 0.79, CI: 0.62-1.00, p=0.05.[PMID 18188695]

rs3218536(A) carriers also appear to be at lower risk for epithelial ovarian cancer. In a study of ~1,600 cases, the odds ratio for rs3218536(A;G) heterozygotes was 0.8 (CI: 0.7-1.0) and for the (quite rare) rs3218536(A;A) homozygotes 0.3 (0.1-0.9).[PMID 15924337]


[PMID 19690184OA-icon.png] Genetic Variants in XRCC2: New Insights Into Colorectal Cancer Tumorigenesis


[PMID 20127279] XRCC2 Arg188His polymorphism is not directly associated with breast cancer risk: evidence from 37,369 subjects


[PMID 21632523OA-icon.png] A role for XRCC2 gene polymorphisms in breast cancer risk and survival


[PMID 22481871OA-icon.png] Assessment of genetic mutations in the XRCC2 coding region by high resolution melting curve analysis and the risk of differentiated thyroid carcinoma in Iran


[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 17557904] Evaluation of genetic variation in the double-strand break repair pathway and bladder cancer risk.


[PMID 18086758OA-icon.png] Association between single-nucleotide polymorphisms in hormone metabolism and DNA repair genes and epithelial ovarian cancer: results from two Australian studies and an additional validation set.


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


[PMID 18768505OA-icon.png] Genetic susceptibility to renal cell carcinoma: the role of DNA double-strand break repair pathway.


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


[PMID 19064565] Common single-nucleotide polymorphisms in DNA double-strand break repair genes and breast cancer risk.


[PMID 19124506OA-icon.png] Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.


[PMID 19127255OA-icon.png] Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium.


[PMID 19276285OA-icon.png] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.


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


[PMID 19543528OA-icon.png] Association between common germline genetic variation in 94 candidate genes or regions and risks of invasive epithelial ovarian cancer.


[PMID 20004634] Breast cancer risk and common single nucleotide polymorphisms in homologous recombination DNA repair pathway genes XRCC2, XRCC3, NBS1 and RAD51.


[PMID 21104022OA-icon.png] Polymorphisms in RAD51, XRCC2 and XRCC3 genes of the homologous recombination repair in colorectal cancer--a case control study.


[PMID 21974800] DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome.


GET Evidence
XRCC2-R188H
aa_change Arg188His
aa_change_short R188H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0562372
summary



[PMID 23539294] XRCC2 R188H (rs3218536), XRCC3 T241M (rs861539) and R243H (rs77381814) Single Nucleotide Polymorphisms in Cervical Cancer Risk


[PMID 24621646OA-icon.png] Impact of XRCC2 Arg188His Polymorphism on Cancer Susceptibility: A Meta-Analysis


[PMID 26339569] Polymorphisms of Homologous Recombination RAD51, RAD51B, XRCC2, and XRCC3 Genes and the Risk of 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 26938431] Association Studies Between XRCC1, XRCC2, XRCC3 Polymorphisms and Differentiated Thyroid Carcinoma.