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From SNPedia

Geno Mag Summary
(A;A) 2 2.76x odds of pancreatic cancer, but 0.86x reduced risk of melanoma
(A;G) normal
(G;G) 0 normal
ReferenceGRCh38 38.1/141
is asnp
is mentioned by
dbSNP (classic)rs1801516
1000 genomesrs1801516
23andMe allrs1801516
GWAS Ctlgrs1801516
Max Magnitude2
? (A;A) (A;G) (G;G) 28

This SNP lies within the gene coding for ATM (Ataxia telegensia mutated), a main role of which is the repair of double-stranded DNA breaks. As such SNPs within this gene have been associated with susceptibility to cancer.

Rs1801516(A,A) leads to homozygous expression of ATM(D1853N). Homozygotes for this mutation have been associated with increased likelihood of pancreatic cancer (OR, 2.55; 95% CI, 1.08-6.00; P = 0.032) [PMID 19147782OA-icon.png].

Despite early reports, the role of Rs1801516 in breast cancer is unclear [PMID 18433505OA-icon.png]. A meta-analysis concluded that this mutation was not a risk factor for developing breast cancer (GA vs GG:OR=1.18 (95%CI 0.90-1.53); AA vs GG:OR=0.77 (95%CI 0.58-1.03) [PMID 20799949OA-icon.png]. Similarly the (A,A) variant has been reported to be protective against Melanoma development (p=3.4×10−9, OR=0.84 overall) [PMID 21983787OA-icon.png].


[PMID 19147782OA-icon.png] DNA Repair Gene Polymorphisms and Risk of Pancreatic Cancer

[PMID 19286843] Polymorphisms of DNA damage response genes in radiation-related and sporadic papillary thyroid carcinoma

GWAS snp
PMID [PMID 21983787OA-icon.png]
Title Genome-wide association study identifies three new melanoma susceptibility loci.
Risk Allele
P-val 3E-9
Odds Ratio 1.1900 None

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

[PMID 17132159OA-icon.png] Comprehensive analysis of the ATM, CHEK2 and ERBB2 genes in relation to breast tumour characteristics and survival: a population-based case-control and follow-up study.

[PMID 17623063OA-icon.png] Linkage disequilibrium pattern of the ATM gene in breast cancer patients and controls; association of SNPs and haplotypes to radio-sensitivity and post-lumpectomy local recurrence.

[PMID 18264724] Single nucleotide polymorphism D1853N of the ATM gene may alter the risk for breast cancer.

[PMID 18433505OA-icon.png] Association of common ATM variants with familial breast cancer in a South American population.

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

[PMID 18701470OA-icon.png] Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.

[PMID 18768505OA-icon.png] Genetic susceptibility to renal cell carcinoma: the role of DNA double-strand break repair pathway.

[PMID 19094228OA-icon.png] The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer.

[PMID 19276285OA-icon.png] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.

[PMID 19348699OA-icon.png] Variants in the ATM gene and breast cancer susceptibility.

[PMID 19536092OA-icon.png] Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.

[PMID 20799949OA-icon.png] The association between ATM D1853N polymorphism and breast cancer susceptibility: a meta-analysis.

[PMID 23537197OA-icon.png] Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population

[PMID 24324286OA-icon.png] Investigation of genetic polymorphisms related to the outcome of radiotherapy for prostate cancer patients

[PMID 23154078OA-icon.png] ATM polymorphisms predict severe radiation pneumonitis in patients with non-small cell lung cancer treated with definitive radiation therapy.

[PMID 23238918] Genome-wide pathway analysis of a genome-wide association study on multiple sclerosis.

Risk Rs1801516(A;A)
Alt Rs1801516(A;A)
Reference Rs1801516(G;G)
Significance Other
Disease not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome
Variation info
Gene ATM
CLNDBN not specified Hereditary cancer-predisposing syndrome Ataxia-telangiectasia syndrome
Reversed 0
HGVS NC_000011.9:g.108175462G>A
CLNSRC UniProtKB (protein)
CLNACC RCV000116427.5, RCV000131720.3, RCV000316554.1,

[PMID 25832699] Ataxia Telangiectasia-Mutated Gene Polymorphisms and Acute Normal Tissue Injuries in Cancer Patients After Radiation Therapy: A Systematic Review and Meta-analysis

[PMID 25849217OA-icon.png] Common Variants at 9q22.33, 14q13.3, and ATM Loci, and Risk of Differentiated Thyroid Cancer in the French Polynesian Population

[PMID 25879635OA-icon.png] Common variants at the 9q22.33, 14q13.3 and ATM loci, and risk of differentiated thyroid cancer in the Cuban population

[PMID 27443449OA-icon.png] Individual patient data meta-analysis shows a significant association between the ATM rs1801516 SNP and toxicity after radiotherapy in 5456 breast and prostate cancer patients.

[PMID 31095341OA-icon.png] Radiogenomics Consortium Genome-Wide Association Study Meta-analysis of Late Toxicity after Prostate Cancer Radiotherapy.

[PMID 32674635OA-icon.png] Polymorphism rs1801516 (G > A) in the ATM gene is not associated with overall cancer risk: an updated meta-analysis.