rs3218536
| Orientation | minus |
| Stabilized | minus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 7 |
| Position | 152648922 |
| Gene | XRCC2 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs3218536 |
| dbSNP (classic) | rs3218536 |
| ClinGen | rs3218536 |
| ebi | rs3218536 |
| HLI | rs3218536 |
| Exac | rs3218536 |
| Gnomad | rs3218536 |
| Varsome | rs3218536 |
| LitVar | rs3218536 |
| Map | rs3218536 |
| PheGenI | rs3218536 |
| Biobank | rs3218536 |
| 1000 genomes | rs3218536 |
| hgdp | rs3218536 |
| ensembl | rs3218536 |
| geneview | rs3218536 |
| scholar | rs3218536 |
| rs3218536 | |
| pharmgkb | rs3218536 |
| gwascentral | rs3218536 |
| openSNP | rs3218536 |
| 23andMe | rs3218536 |
| SNPshot | rs3218536 |
| SNPdbe | rs3218536 |
| MSV3d | rs3218536 |
| GWAS Ctlg | rs3218536 |
| GMAF | 0.0427 |
| Max Magnitude | 2 |
| ? | (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 19690184
] 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 21632523] A role for XRCC2 gene polymorphisms in breast cancer risk and survival
[PMID 22481871] 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 16465622] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
[PMID 16857995] 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 18086758] 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 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18768505] Genetic susceptibility to renal cell carcinoma: the role of DNA double-strand break repair pathway.
[PMID 18990748] 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 19124506] Common genetic variation in candidate genes and susceptibility to subtypes of breast cancer.
[PMID 19127255] Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium.
[PMID 19276285] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
[PMID 19367277] Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer.
[PMID 19543528] 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 21104022] 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.
[PMID 23539294] XRCC2 R188H (rs3218536), XRCC3 T241M (rs861539) and R243H (rs77381814) Single Nucleotide Polymorphisms in Cervical Cancer Risk
[PMID 24621646] 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.
[PMID 29038438] Haplotype analysis of XRCC2 gene polymorphisms and association with increased risk of head and neck cancer.
[PMID 32277685] ERCC2 Lys751Gln rs13181 and XRCC2 Arg188His rs3218536 Gene Polymorphisms Contribute to Subsceptibility of Colon, Gastric, HCC, Lung And Prostate Cancer.
