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rs861539

From SNPedia

Orientationminus
Stabilizedminus
Make rs861539(C;C)
Make rs861539(C;T)
Make rs861539(T;T)
ReferenceGRCh38 38.1/141
Chromosome14
Position103699416
GeneKLC1, XRCC3
is asnp
is mentioned by
dbSNPrs861539
ebirs861539
HLIrs861539
Exacrs861539
Varsomers861539
Maprs861539
PheGenIrs861539
hapmaprs861539
1000 genomesrs861539
hgdprs861539
ensemblrs861539
gopubmedrs861539
geneviewrs861539
scholarrs861539
googlers861539
pharmgkbrs861539
gwascentralrs861539
openSNPrs861539
23andMers861539
23andMe allrs861539
SNP Nexus

SNPshotrs861539
SNPdbers861539
MSV3drs861539
GWAS Ctlgrs861539
GMAF0.2507
Max Magnitude

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 26137085OA-icon.png]

? (C;C) (C;T) (T;T) 28

[PMID 18410587] rs2040639-AG, contribute to oral cancer risk.

pseudo-haplotype with AG-CC genotypes in

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

OMIM600675
Desc
Variant0001
Relatedalso


[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
CLNACC RCV000009500.2,



[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 17705814OA-icon.png] Polymorphisms in XPC, XPD, XRCC1, and XRCC3 DNA repair genes and lung cancer risk in a population of northern Spain.


[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 18188695] Genetic polymorphisms in the DNA repair genes XRCC1, XRCC2 and XRCC3 and risk of breast cancer in Cyprus.


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


[PMID 18194558OA-icon.png] A hierarchical and modular approach to the discovery of robust associations in genome-wide association studies from pooled DNA samples.


[PMID 18579371OA-icon.png] Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions.


[PMID 18701435OA-icon.png] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.


[PMID 18708406OA-icon.png] Variants of DNA repair genes and the risk of biliary tract cancers and stones: a population-based study in China.


[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 19124499OA-icon.png] Association and interactions between DNA repair gene polymorphisms and adult glioma.


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


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


[PMID 19706757OA-icon.png] 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 21104022OA-icon.png] 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 24500421OA-icon.png] 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 24940494OA-icon.png] Association of XRCC1 and XRCC3 gene haplotypes with the development of radiation-induced fibrosis in patients with nasopharyngeal carcinoma


[PMID 24939416OA-icon.png] CYP1A1 Ile462Val polymorphism and colorectal cancer risk in Polish patients


[PMID 25006581OA-icon.png] 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 26339569OA-icon.png] 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.