{{Rsnum
|rsid=1801516
|Gene=ATM
|Chromosome=11
|position=108304735
|Orientation=plus
|ReferenceAllele=G
|MissenseAllele=A
|GMAF=0.07897
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;G)
|geno3=(G;G)
|Gene_s=ATM
}}{{ population diversity
| geno1=(A;A)
| geno2=(A;G)
| geno3=(G;G)
| CEU | 0.9 | 35.4 | 63.7
| HCB | 0.0 | 2.9 | 97.1
| JPT | 0.0 | 0.9 | 99.1
| YRI | 0.0 | 0.0 | 100.0
| ASW | 1.8 | 1.8 | 96.5
| CHB | 0.0 | 2.9 | 97.1
| CHD | 0.0 | 0.9 | 99.1
| GIH | 1.0 | 22.8 | 76.2
| LWK | 0.0 | 1.8 | 98.2
| MEX | 1.7 | 13.8 | 84.5
| MKK | 0.0 | 0.6 | 99.4
| TSI | 2.0 | 30.4 | 67.6
| HapMapRevision=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|OA=1
}}.

Despite early reports, the role of Rs1801516 in breas cancer is unclear {{PMID|18433505|OA=1
}}. 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|OA=1
}}. 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|OA=1
}}.

==References==

{{PMID|19147782|OA=1
}} DNA Repair Gene Polymorphisms and Risk of Pancreatic Cancer

{{PMID Auto
|PMID=19286843
|Title=Polymorphisms of DNA damage response genes in radiation-related and sporadic papillary thyroid carcinoma
}}

{{PMID Auto GWAS
|PMID=21983787
|Trait=None
|Title=Genome-wide association study identifies three new melanoma susceptibility loci.
|RiskAllele=
|Pval=3E-9
|OR=1.1900
|ORtxt=None
|OA=1
}}

{{PMID Auto
|PMID=16465622
|Title=Bladder cancer predisposition: a multigenic approach to DNA-repair and cell-cycle-control genes.
|OA=1
}}

{{PMID Auto
|PMID=17132159
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=17623063
|Title=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.
|OA=1
}}

{{PMID Auto
|PMID=18264724
|Title=Single nucleotide polymorphism D1853N of the ATM gene may alter the risk for breast cancer.
}}

{{PMID Auto
|PMID=18433505
|Title=Association of common ATM variants with familial breast cancer in a South American population.
|OA=1
}}

{{PMID Auto
|PMID=18579371
|Title=Genetic polymorphisms in double-strand break DNA repair genes associated with risk of oral premalignant lesions.
|OA=1
}}

{{PMID Auto
|PMID=18701470
|Title=Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=18768505
|Title=Genetic susceptibility to renal cell carcinoma: the role of DNA double-strand break repair pathway.
|OA=1
}}

{{PMID Auto
|PMID=19094228
|Title=The influence of genetic variation in 30 selected genes on the clinical characteristics of early onset breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=19276285
|Title=Associations between single nucleotide polymorphisms in double-stranded DNA repair pathway genes and familial breast cancer.
|OA=1
}}

{{PMID Auto
|PMID=19348699
|Title=Variants in the ATM gene and breast cancer susceptibility.
|OA=1
}}

{{PMID Auto
|PMID=19536092
|Title=Explorative study to identify novel candidate genes related to oxaliplatin efficacy and toxicity using a DNA repair array.
|OA=1
}}

{{PMID Auto
|PMID=20799949
|Title=The association between ATM D1853N polymorphism and breast cancer susceptibility: a meta-analysis.
|OA=1
}}

{{GET Evidence
|gene=ATM
|aa_change=Asp1853Asn
|aa_change_short=D1853N
|impact=not reviewed
|qualified_impact=Insufficiently evaluated not reviewed
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs1801516
|overall_frequency_n=1077
|overall_frequency_d=10758
|overall_frequency=0.100112
|n_genomes=7
|n_genomes_annotated=0
|n_haplomes=9
|n_articles=0
|n_articles_annotated=0
|qualityscore_in_silico=3
|qualitycomment_in_silico=Y
|gene_in_genetests=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=-1
|autoscore=3
|n_web_uneval=10
}}

{{PMID Auto
|PMID=23537197
|Title=Genetic variants in PARP1 (rs3219090) and IRF4 (rs12203592) genes associated with melanoma susceptibility in a Spanish population
|OA=1
}}

{{PMID Auto
|PMID=24324286
|Title=Investigation of genetic polymorphisms related to the outcome of radiotherapy for prostate cancer patients
|OA=1
}}

{{PMID Auto
|PMID=23154078
|Title=ATM polymorphisms predict severe radiation pneumonitis in patients with non-small cell lung cancer treated with definitive radiation therapy.
|OA=1
}}

{{PMID Auto
|PMID=23238918
|Title=Genome-wide pathway analysis of a genome-wide association study on multiple sclerosis.
}}

{{on chip | 23andMe v1}}
{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | FTDNA2}}
{{on chip | FTDNA}}
{{on chip | HumanOmni1Quad}}
{{on chip | Illumina Human 1M}}