rs1801516
| Orientation | plus |
| Stabilized | plus |
| 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 |
| Reference | GRCh38 38.1/141 |
| Chromosome | 11 |
| Position | 108304735 |
| Gene | ATM |
| is a | snp |
| is | mentioned by |
| dbSNP | rs1801516 |
| dbSNP (classic) | rs1801516 |
| ClinGen | rs1801516 |
| ebi | rs1801516 |
| HLI | rs1801516 |
| Exac | rs1801516 |
| Gnomad | rs1801516 |
| Varsome | rs1801516 |
| LitVar | rs1801516 |
| Map | rs1801516 |
| PheGenI | rs1801516 |
| Biobank | rs1801516 |
| 1000 genomes | rs1801516 |
| hgdp | rs1801516 |
| ensembl | rs1801516 |
| geneview | rs1801516 |
| scholar | rs1801516 |
| rs1801516 | |
| pharmgkb | rs1801516 |
| gwascentral | rs1801516 |
| openSNP | rs1801516 |
| 23andMe | rs1801516 |
| SNPshot | rs1801516 |
| SNPdbe | rs1801516 |
| MSV3d | rs1801516 |
| GWAS Ctlg | rs1801516 |
| GMAF | 0.07897 |
| Max Magnitude | 2 |
| ? | (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 19147782
].
Despite early reports, the role of Rs1801516 in breast cancer is unclear [PMID 18433505]. 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 20799949]. Similarly the (A,A) variant has been reported to be protective against Melanoma development (p=3.4×10−9, OR=0.84 overall) [PMID 21983787].
References[edit]
[PMID 19147782] 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 21983787]
|
| Trait | |
| Title | Genome-wide association study identifies three new melanoma susceptibility loci. |
| Risk Allele | |
| P-val | 3E-9 |
| Odds Ratio | 1.1900 None |
[PMID 16465622] Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
[PMID 17132159] 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 17623063] 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 18433505] Association of common ATM variants with familial breast cancer in a South American population.
[PMID 18579371] Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions.
[PMID 18701470] Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.
[PMID 18768505] Genetic susceptibility to renal cell carcinoma: the role of DNA double-strand break repair pathway.
[PMID 19094228] The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer.
[PMID 19276285] Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
[PMID 19348699] Variants in the ATM gene and breast cancer susceptibility.
[PMID 19536092] Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.
[PMID 20799949] The association between ATM D1853N polymorphism and breast cancer susceptibility: a meta-analysis.
[PMID 23537197] Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population
[PMID 24324286] Investigation of genetic polymorphisms related to the outcome of radiotherapy for prostate cancer patients
[PMID 23154078] 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.
| ClinVar | |
|---|---|
| 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 25849217] Common Variants at 9q22.33, 14q13.3, and ATM Loci, and Risk of Differentiated Thyroid Cancer in the French Polynesian Population
[PMID 25879635] Common variants at the 9q22.33, 14q13.3 and ATM loci, and risk of differentiated thyroid cancer in the Cuban population
[PMID 27443449] 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 31095341] Radiogenomics Consortium Genome-Wide Association Study Meta-analysis of Late Toxicity after Prostate Cancer Radiotherapy.
[PMID 32674635] Polymorphism rs1801516 (G > A) in the ATM gene is not associated with overall cancer risk: an updated meta-analysis.
