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From SNPedia

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
is asnp
is mentioned by
1000 genomesrs3218536
23andMe allrs3218536
SNP Nexus

GWAS Ctlgrs3218536
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
aa_change Arg188His
aa_change_short R188H
impact not reviewed
qualified_impact Insufficiently evaluated not reviewed
overall_frequency 0.0562372

[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.