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From SNPedia

Geno Mag Summary
(C;C) 0 lower risk for skin cancer
(C;T) 1.3 1.3x increased risk for oral cancer among Asians
(T;T) 1.4 1.4x increased risk for oral cancer among Asians
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (old)rs1799782
1000 genomesrs1799782
23andMe allrs1799782
SNP Nexus

GWAS Ctlgrs1799782
Max Magnitude1.4
rs1799782, a SNP also known as Arg194Trp located in the DNA-repair gene XRCC1, is associated with a reduced risk for certain types of cancer. The (T) allele encodes the Trp amino acid.

A study of ~200 Korean cases of skin cancer indicated that the rs1799782(T;T) genotype was inversely associated with squamous cell cancer risk (adjusted odds ratio 0.06, CI: 0.006-0.63).[PMID 17355263]

A meta-analysis of 8 case-control studies concluded that significant association was found between the rs1799782 polymorphism and oral cancer risk among Asians, showing an odds ratio of 1.347 (CI: 1.0 - 1.81) for allele comparison, 1.378 (CI: 1.070 - 1.775) for (T;T) homozygotes vs (C;C) homozygotes, and 1.420 (CI: 1.041 - 1.936) for comparison under a dominant model.[PMID 19713684]

18067C>T possibly related to non-Hodgkin lymphoma

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

pseudo-haplotype with AG-CC genotypes in

[PMID 21216841] A meta-analysis concludes that this SNP is not associated with risk of gastric cancer.

[PMID 19266243] Single-Nucleotide Polymorphisms of DNA Repair Genes OGG1 and XRCC1: Association with Gallbladder Cancer in North Indian Population

[PMID 17767850] Association between polymorphisms in RMI1, TOP3A, and BLM and risk of cancer: a case-control study

[PMID 19707910] Association study between XRCC1 gene polymorphisms and sporadic amyotrophic lateral sclerosis

[PMID 19880550] Polymorphisms in the DNA repair gene XRCC1 and associations with systemic lupus erythematosus risk in the Taiwanese Han Chinese population

[PMID 20150366OA-icon.png] DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma

[PMID 20332227OA-icon.png] Single-Nucleotide Polymorphisms Inside MicroRNA Target Sites Influence Tumor Susceptibility

? (C;C) (C;T) (T;T)
[PMID 21419115] DNA Repair Gene ERCC2 Polymorphisms and Risk of Squamous Cell Carcinoma of the Head and Neck

[PMID 21612998] No association of XRCC1 polymorphisms Arg194Trp and Arg399Gln with colorectal cancer risk

[PMID 21976407OA-icon.png] Genetic variability in DNA repair and cell cycle control pathway genes and risk of smoking-related lung cancer

[PMID 22726897] Single nucleotide polymorphism barcoding to evaluate oral cancer risk using odds ratio-based genetic algorithms

[PMID 15113441OA-icon.png] Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.

[PMID 16465622OA-icon.png] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.

[PMID 16931584OA-icon.png] Multiplex pyrosequencing of two polymorphisms in DNA repair gene XRCC1.

[PMID 17425776OA-icon.png] DNA repair gene XRCC1 polymorphisms and bladder cancer risk.

[PMID 17984110] Selected base excision repair gene polymorphisms and susceptibility to biliary tract cancer and biliary stones: a population-based case-control study in China.

[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 18544627OA-icon.png] Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.

[PMID 18547414OA-icon.png] Genotyping panel for assessing response to cancer chemotherapy.

[PMID 18669164] Association of polymorphisms in base excision repair genes with the risk of breast cancer: a case-control study in North Indian women.

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

[PMID 18796628OA-icon.png] Etiologic heterogeneity among non-Hodgkin lymphoma subtypes.

[PMID 18936436OA-icon.png] Prevalence in the United States of selected candidate gene variants: Third National Health and Nutrition Examination Survey, 1991-1994.

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

[PMID 19029194OA-icon.png] Base excision repair genes and risk of lung cancer among San Francisco Bay Area Latinos and African-Americans.

[PMID 19098027OA-icon.png] SNPnexus: a web database for functional annotation of newly discovered and public domain single nucleotide polymorphisms.

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

[PMID 19124519OA-icon.png] DNA repair gene variants associated with benign breast disease in high cancer risk women.

[PMID 19138047OA-icon.png] Thyroid nodules, polymorphic variants in DNA repair and RET-related genes, and interaction with ionizing radiation exposure from nuclear tests in Kazakhstan.

[PMID 19230024OA-icon.png] Smoking modifies the relationship between XRCC1 haplotypes and HPV16-negative head and neck squamous cell carcinoma.

[PMID 19274602OA-icon.png] Gene-environment interactions between DNA repair polymorphisms and exposure to the carcinogen vinyl chloride.

[PMID 19318434OA-icon.png] Associations between polymorphisms in DNA repair genes and glioblastoma.

[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 20442803OA-icon.png] XRCC1 polymorphisms and breast cancer risk from the New York Site of the Breast Cancer Family Registry: A family-based case-control study.

[PMID 21283657OA-icon.png] Gallbladder cancer predisposition: a multigenic approach to DNA-repair, apoptotic and inflammatory pathway genes.

[PMID 21420246OA-icon.png] Functional polymorphisms of base excision repair genes XRCC1 and APEX1 predict risk of radiation pneumonitis in patients with non-small cell lung cancer treated with definitive radiation therapy.

[PMID 21741876] Polymorphisms in tobacco metabolism and DNA repair genes modulate oral precancer and cancer risk.

[PMID 22135187] Variants in ABCB1, TGFB1, and XRCC1 genes and susceptibility to viral hepatitis A infection in Mexican Americans.

[PMID 22687647] Polymorphisms in base excision DNA repair genes and association with melanoma risk in a pilot study on Central-South Italian population.

[PMID 23244079] Comprehensive Study on Associations Between Nine SNPs and Glioma Risk

[PMID 22850545OA-icon.png] Selected polymorphisms of base excision repair genes and pancreatic cancer risk in Japanese

[PMID 23886187] Association of XRCC1 Gene Polymorphisms with Breast Cancer Susceptibility in Saudi Patients

[PMID 23936089OA-icon.png] Polymorphisms in DNA-Repair Genes in a Cohort of Prostate Cancer Patients from Different Areas in Spain: Heterogeneity between Populations as a Confounding Factor in Association Studies

[PMID 24103542] High-throughput genotyping system as a robust and useful tool in oncology: Experience from a single institution

[PMID 24500421OA-icon.png] Association between DNA repair gene polymorphisms and risk of glioma: A systematic review and meta-analysis

[PMID 23271134] Association between XRCC1 and XRCC3 polymorphisms and colorectal cancer risk: a meta-analysis of 23 case-control studies.

[PMID 23619945OA-icon.png] Polymorphisms in DNA repair pathway genes, body mass index, and risk of non-Hodgkin lymphoma.

[PMID 24172093] Polymorphisms in base excision repair genes are associated with endometrial cancer risk among postmenopausal Japanese women

[PMID 25038912] Polymorphism of DNA Repair Gene xrcc1 and Lung Cancer Risk

[PMID 25130814] [Association of XRCC1 Genetic Polymorphism with Susceptibility to Non-Hodgkin's Lymphoma]

[PMID 25563194] XRCC1 genetic polymorphism acts a potential biomarker for lung cancer

[PMID 25998844] Variants of Base Excision Repair Genes MUTYH , PARP1 and XRCC1 in Alzheimer's Disease Risk

[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 26925658] Association of CYP2E1, STK15 and XRCC1 Polymorphisms with Risk of Breast Cancer in Malaysian Women.

[PMID 26938431] Association Studies Between XRCC1, XRCC2, XRCC3 Polymorphisms and Differentiated Thyroid Carcinoma.

[PMID 28405167OA-icon.png] Genetic variants and increased risk of meningioma: an updated meta-analysis.

Risk Rs1799782(T;T)
Alt Rs1799782(T;T)
Reference Rs1799782(C;C)
Significance Untested
Disease Non-small cell lung cancer
Variation info
Gene XRCC1
CLNDBN Non-small cell lung cancer
Reversed 1
HGVS NC_000019.9:g.44057574G>A
CLNACC RCV000444869.1,