rs861539
| Orientation | minus |
| Stabilized | minus |
| Make rs861539(C;C) |
| Make rs861539(C;T) |
| Make rs861539(T;T) |
| Reference | GRCh38 38.1/141 |
| Chromosome | 14 |
| Position | 103699416 |
| Gene | KLC1, XRCC3 |
| is a | snp |
| is | mentioned by |
| dbSNP | rs861539 |
| dbSNP (classic) | rs861539 |
| ClinGen | rs861539 |
| ebi | rs861539 |
| HLI | rs861539 |
| Exac | rs861539 |
| Gnomad | rs861539 |
| Varsome | rs861539 |
| LitVar | rs861539 |
| Map | rs861539 |
| PheGenI | rs861539 |
| Biobank | rs861539 |
| 1000 genomes | rs861539 |
| hgdp | rs861539 |
| ensembl | rs861539 |
| geneview | rs861539 |
| scholar | rs861539 |
| rs861539 | |
| pharmgkb | rs861539 |
| gwascentral | rs861539 |
| openSNP | rs861539 |
| 23andMe | rs861539 |
| SNPshot | rs861539 |
| SNPdbe | rs861539 |
| MSV3d | rs861539 |
| GWAS Ctlg | rs861539 |
| GMAF | 0.2507 |
| Max Magnitude | 0 |
rs861539, also known as c.722C>T, p.Thr241Met and T241M, is a SNP in the XRCC3 gene on chromosome 14. The somewhat more common rs861539(C) allele leads to the Thr (T); the somewhat less common rs861539(T) is associated with the Met (M).
A meta-analysis of three studies (each over 500 cases) found a significant - though slight - association for melanoma for the rs861539(Thr/Thr vs. Met/Thr: OR 1.20, CI: 1.04-1.38; dominant model: OR 0.86, CI: 0.75-0.98).[PMID 26137085
]
| ? | (C;C) (C;T) (T;T) | 28 |
|---|---|---|
|
| ||
[PMID 18410587] rs2040639-AG, contribute to oral cancer risk.
pseudo-haplotype with AG-CC genotypes in
- 2.45x risk rs2040639-rs861539
- 5.03x risk rs2040639-rs861539-rs2075685
- 10.10x risk rs2040639-rs861539-rs2075685-rs1799782
rs4880(C;T) prostate cancer patients being treated by radiation therapy are more likely (8% compared to 0%, p=0.02) to exhibit a significant increase in grade 2 late rectal bleeding after irradiation than (C;C) or (T;T) patients, based on a study of 135 patients. The odds for this are worse if the patient also has the rs861539(C;T) genotype (14% vs 1%, p=0.002).[PMID 18582155]
rs861539(T;T) Taiwanese women are at ~3x higher risk for triple-negative breast cancer according to a study of 1200+ such patients; the odds ratio was 2.99 (CI: 1.62-5.55, p = 0.0002).[PMID 26543082]
[PMID 19815090] The Relation between Endothelial Nitric Oxide Synthase Gene Variants and Primary Open-Angle Glaucoma: Interactions with Gender and Postmenopausal Hormone Use
[PMID 20334523] Association between Normal Tissue Complications after Radiotherapy and Polymorphic Variations in TGFB1 and XRCC1 Genes
[PMID 20590474] Polymorphic Variants of DNA Repair Gene XRCC3 and XRCC7 and Risk of Prostate Cancer: A Study from North Indian Population
[PMID 21419115] DNA Repair Gene ERCC2 Polymorphisms and Risk of Squamous Cell Carcinoma of the Head and Neck
[PMID 21617942] Gene variants of XRCC4 and XRCC3 and their association with risk for urothelial bladder cancer
[PMID 21725594] Combined effect of polymorphisms in Rad51 and Xrcc3 on breast cancer risk and chromosomal radiosensitivity
[PMID 22726897] Single nucleotide polymorphism barcoding to evaluate oral cancer risk using odds ratio-based genetic algorithms
| ClinVar | |
|---|---|
| Risk | rs861539(T;T) |
| Alt | rs861539(T;T) |
| Reference | rs861539(C;C) |
| Significance | Other |
| Disease | Cutaneous malignant melanoma 6 |
| Variation | info |
| Gene | KLC1 XRCC3 |
| CLNDBN | Cutaneous malignant melanoma 6 |
| Reversed | 1 |
| HGVS | NC_000014.8:g.104165753G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009500.3, |
[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 17705814] Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of northern Spain.
[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 18188695] Genetic polymorphisms in the DNA repair genes XRCC1, XRCC2 and XRCC3 and risk of breast cancer in Cyprus.
[PMID 18191955] Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatic tools.
[PMID 18194558] A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.
[PMID 18579371] Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions.
[PMID 18701435] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.
[PMID 18708406] Variants of DNA repair genes and the risk of biliary tract cancers and stones: a population-based study in China.
[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 19124499] Association and interactions between DNA repair gene polymorphisms and adult glioma.
[PMID 19127255] Validating genetic risk associations for ovarian cancer through the international Ovarian Cancer Association Consortium.
[PMID 19367277] Genetic polymorphisms in DNA repair and damage response genes and late normal tissue complications of radiotherapy for breast cancer.
[PMID 19706757] Polymorphisms in DNA repair genes, smoking, and bladder cancer risk: findings from the international consortium of bladder 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 21183201] DNA repair gene polymorphisms at XRCC1, XRCC3, XPD, and OGG1 loci in Maharashtrian population of central India.
[PMID 21195504] Association of genetic polymorphisms in DNA repair pathway genes with non-small cell lung cancer risk.
[PMID 21347786] DNA repair gene and MTHFR gene polymorphisms as prognostic markers in locally advanced adenocarcinoma of the esophagus or stomach treated with cisplatin and 5-fluorouracil-based neoadjuvant chemotherapy.
[PMID 21561390] Association of APE1 and hOGG1 polymorphisms with colorectal cancer risk in a Turkish population.
[PMID 21974800] DNA repair gene polymorphisms and risk of early onset colorectal cancer in Lynch syndrome.
[PMID 22525558] Genetic polymorphisms involved in carcinogen metabolism and DNA repair and lung cancer risk in a Japanese population.
[PMID 23244079] Comprehensive Study on Associations Between Nine SNPs and Glioma Risk
[PMID 23539294] XRCC2 R188H (rs3218536), XRCC3 T241M (rs861539) and R243H (rs77381814) Single Nucleotide Polymorphisms in Cervical Cancer Risk
[PMID 24085356] Genetic polymorphisms of XRCC3 Thr241Met (C18067T, rs861539) and bladder cancer risk: a meta-analysis of 18 research studies
[PMID 24307625] Haplotype-based case-control study of DNA repair gene XRCC3 and hepatocellular carcinoma risk in a Chinese population
[PMID 24325908] Analysis of dna repair gene polymorphisms in glioblastoma
[PMID 24500421] Association between DNA repair gene polymorphisms and risk of glioma: A systematic review and meta-analysis
[PMID 22740138] An interethnic variability and a functional prediction of DNA repair gene polymorphisms: the example of XRCC3 (p.Thr241>Met) and XPD (p.Lys751>Gln) in a healthy Tunisian population.
[PMID 23271134] Association between XRCC1 and XRCC3 polymorphisms and colorectal cancer risk: a meta-analysis of 23 case-control studies.
[PMID 23526128] Lack of association between XRCC3 rs861539 (C > T) polymorphism and lung cancer risks: an update meta-analysis.
[PMID 24922659] Contribution of DNA Double-strand Break Repair Gene XRCC3 Genotypes to Oral Cancer Susceptibility in Taiwan
[PMID 24940494] Association of XRCC1 and XRCC3 gene haplotypes with the development of radiation-induced fibrosis in patients with nasopharyngeal carcinoma
[PMID 24939416] CYP1A1 Ile462Val polymorphism and colorectal cancer risk in Polish patients
[PMID 25006581] Analyzing Association of the XRCC3 Gene Polymorphism with Ovarian Cancer Risk
[PMID 25176580] NBN and XRCC3 genetic variants in childhood acute lymphoblastic leukaemia
[PMID 23959014] DNA Repair Genes XRCC1, XRCC3, XPD, and OGG1 Polymorphisms among the Central Region Population of Saudi Arabia
[PMID 25794597] DNA repair gene XRCC3 Thr241Met polymorphisms and lung cancer risk: A meta-analysis
[PMID 26159902] DNA Repair Gene Polymorphisms in Relation to Non-Small Cell Lung Cancer Survival
[PMID 26254358] Contribution of X-Ray Repair Complementing Defective Repair in Chinese Hamster Cells 3 (XRCC3) Genotype to Leiomyoma Risk
[PMID 26264616] Association between x-ray repair cross-complementing group 3 (XRCC3) genetic polymorphisms and papillary thyroid cancer susceptibility in a Chinese Han population
[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 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.
[PMID 26974709] Polymorphisms in double strand break repair related genes influence radiosensitivity phenotype in lymphocytes from healthy individuals.
[PMID 30033552] Clinicopathological significance of SNPs in RAD51 and XRCC3 in oral and oropharyngeal carcinomas.
[PMID 31374908] Thyroid Cancer: The Quest for Genetic Susceptibility Involving DNA Repair Genes.
