rs1799782

minus

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

Reference

GRCh38 38.1/141

Chromosome

19

Position

43553422

Gene

XRCC1

is a	snp
is	mentioned by
dbSNP	rs1799782
dbSNP (classic)	rs1799782
ClinGen	rs1799782
ebi	rs1799782
HLI	rs1799782
Exac	rs1799782
Gnomad	rs1799782
Varsome	rs1799782
LitVar	rs1799782
Map	rs1799782
PheGenI	rs1799782
Biobank	rs1799782
1000 genomes	rs1799782
hgdp	rs1799782
ensembl	rs1799782
geneview	rs1799782
scholar	rs1799782
google	rs1799782
pharmgkb	rs1799782
gwascentral	rs1799782
openSNP	rs1799782
23andMe	rs1799782
SNPshot	rs1799782
SNPdbe	rs1799782
MSV3d	rs1799782
GWAS Ctlg	rs1799782

GMAF

0.1299

Max Magnitude

1.4

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

2.45x risk rs2040639-rs861539
5.03x risk rs2040639-rs861539-rs2075685
10.10x risk rs2040639-rs861539-rs2075685-rs1799782

[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 20150366 ] DNA repair gene polymorphisms and risk of adult meningioma, glioma, and acoustic neuroma

[PMID 20332227 ] 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 21976407 ] 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 15113441 ] Kin-cohort estimates for familial breast cancer risk in relation to variants in DNA base excision repair, BRCA1 interacting and growth factor genes.

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

[PMID 16931584 ] Multiplex pyrosequencing of two polymorphisms in DNA repair gene XRCC1.

[PMID 17425776 ] 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 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 18544627 ] Polymorphisms in DNA repair genes, smoking, and pancreatic adenocarcinoma risk.

[PMID 18547414 ] 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 18701435 ] Polygenic model of DNA repair genetic polymorphisms in human breast cancer risk.

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

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

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

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

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

[PMID 19124499 ] Association and interactions between DNA repair gene polymorphisms and adult glioma.

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

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

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

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

[PMID 19318434 ] Associations between polymorphisms in DNA repair genes and glioblastoma.

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

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

[PMID 21420246 ] 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 22850545 ] 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 23936089 ] 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 24500421 ] 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 23619945 ] 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 28405167 ] Genetic variants and increased risk of meningioma: an updated meta-analysis.

ClinVar
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
CLNSRC
CLNACC	RCV000444869.1,

[PMID 29552790] Haplotype analysis of XRCC1 gene polymorphisms and the risk of thyroid carcinoma.

[PMID 32606887 ] The Impact of the Genetic Polymorphism in DNA Repair Pathways on Increased Risk of Glioblastoma Multiforme in the Arab Jordanian Population: A Case-Control Study.