What you carry at this position in your DNA and what research says about it.
Cancer and Treatment Response: 9/10 evidence, 36 publications.
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Sample genotype (not yours): G/G
Typical Cancer Risk and Standard Treatment Response
Standard cellular repair mechanisms function normally, maintaining typical baseline risks for most cancers. Standard radiation and chemotherapy treatments are generally tolerated without elevated risks of severe side effects.
What this genotype means: Typical baseline risk for major cancers; Standard tolerance to radiation therapy; Slightly increased risk of uterine fibroids.
Sample genotype (not yours): A/A
Lower Melanoma Risk but Higher Pancreatic Cancer Risk
A distinct biological trade-off exists, featuring a significantly reduced risk of melanoma alongside an increased susceptibility to pancreatic cancer. Medical treatments like radiotherapy and chemotherapy are also associated with higher sensitivity and side effects.
What this genotype means: Reduced risk of cutaneous melanoma; Increased risk of pancreatic cancer; Higher sensitivity to radiotherapy and chemotherapy side effects.
Sample genotype (not yours): G/A
Typical Cancer Risk with Slight Treatment Sensitivity
Standard cancer risks remain largely unchanged, but a single copy of the variant allele may slightly increase sensitivity to certain medical treatments. Radiotherapy and chemotherapy might trigger slightly more pronounced side effects than usual.
What this genotype means: Typical baseline cancer risk; Slightly elevated sensitivity to radiotherapy; Slightly higher risk of chemotherapy-induced nausea.
Gene function and biological role
Gene Function: The ATM gene encodes a serine/threonine kinase that plays a pivotal role in cell cycle checkpoint signaling and repairing double-stranded DNA breaks [1]. When DNA damage occurs, the ATM protein is activated and phosphorylates downstream targets to coordinate DNA repair and prevent genomic instability [1]. Inherited mutations that completely disrupt this gene cause ataxia-telangiectasia, a rare multi-system disorder [2]. Common variations in the gene can subtly alter the kinase's efficiency, influencing how cells respond to cellular stress and radiation [3]. These subtle changes are often studied for their potential to alter cancer susceptibility and sensitivity to medical radiation [3].
Variant Impact: The rs1801516 variant represents a missense mutation in the ATM gene, resulting in an amino acid substitution from aspartate to asparagine at position 1853 [1]. This specific alteration, often designated as p.Asp1853Asn, occurs in a region of the protein that may influence its overall stability or kinase activity [1]. While the alteration does not cause severe genetic disorders like ataxia-telangiectasia, it alters cellular responses to DNA damage [4]. Consequently, the variant has been linked to distinct differences in cancer susceptibility and normal tissue sensitivity to radiation therapy. Research indicates that the variant allele can have contrasting effects depending on the specific tissue type and environmental exposures [3].
Key Insight: The variant allele presents a striking biological trade-off, significantly lowering the risk of skin melanoma while simultaneously increasing the risk of pancreatic cancer and sensitivity to radiation therapy.
Location: ATM. Chromosome 11 · 11q22.3 · 108.3 Mb
Estimated prevalence by population
Global 80.3%; European 73.2%; African 95.3%; East Asian 98.4%; South Asian 85.4%; Americas 82.7%; Ashkenazi 73.4%; Finnish 58.1%; Middle Eastern 84.3%; Amish 44.6%.
Estimated GG genotype frequency.
Global 18.1%; European 24.8%; African 4.7%; East Asian 1.6%; South Asian 14.0%; Americas 16.5%; Ashkenazi 24.6%; Finnish 36.3%; Middle Eastern 15.0%; Amish 44.4%.
Estimated GA genotype frequency.
Global 1.6%; European 2.1%; African 0.1%; East Asian < 0.1%; South Asian 0.6%; Americas 0.8%; Ashkenazi 2.1%; Finnish 5.7%; Middle Eastern 0.7%; Amish 11.0%.
Estimated AA genotype frequency.
Showing effects for G/G genotype
Cancer & Oncology
Skin Cancer
Melanoma. Evidence: 9/10. Source: PMID 32341527. Typical Risk.
Gastrointestinal Cancers
Pancreatic Cancer. Evidence: 3/10. Source: PMID 32674635. Typical Risk.
Cancer Prognosis & Treatment Outcome
Radiotherapy Sensitivity. Evidence: 3/10. Source: PMID 27443449. Typical Sensitivity.
Pharmacogenomics
Chemotherapy Response
Chemotherapy Side Effects. Evidence: 5/10. Source: PMID 29507678. Typical Risk.
Endocrine & Reproductive
Female Reproductive Health & Fertility
Uterine Fibroids. Evidence: 4/10. Source: PMID 30194396. ~1.1x Increased Risk.
Showing effects for A/A genotype
Melanoma. Evidence: 9/10. Source: PMID 32341527. ~15% Lower Risk.
Pancreatic Cancer. Evidence: 3/10. Source: PMID 32674635. ~2.7x Increased Risk.
Radiotherapy Sensitivity. Evidence: 3/10. Source: PMID 27443449. Increased Risk.
Chemotherapy Side Effects. Evidence: 5/10. Source: PMID 29507678. Increased Risk.
Uterine Fibroids. Evidence: 4/10. Source: PMID 30194396. Typical Risk.
Showing effects for G/A genotype
Radiotherapy Sensitivity. Evidence: 3/10. Source: PMID 27443449. Slightly Higher Risk.
Chemotherapy Side Effects. Evidence: 5/10. Source: PMID 29507678. Slightly Higher Risk.
What this genotype means for the people who carry it
Sample genotype: GG (Homozygous)
Cellular defense systems rely on the standard aspartate amino acid at position 1853 of the ATM protein to coordinate double-stranded DNA repair [1]. Maintaining this standard sequence ensures typical baseline susceptibility to pancreatic cancer and standard sensitivity to therapeutic radiation. While this baseline configuration does not offer the protective benefit against melanoma seen with the variant allele, it avoids the elevated risks of tissue toxicity associated with altered ATM function [2]. Clinical studies show that standard radiotherapy and chemotherapy regimens are tolerated with typical, expected side-effect profiles. A minor trade-off is a very slight increase in susceptibility to uterine fibroids compared to variant carriers [3]. Overall, this represents the most common genetic baseline across global populations.
Typical baseline risk for major cancers; Standard tolerance to radiation therapy; Slightly increased risk of uterine fibroids.
Sample genotype: AA (Homozygous)
Double copies of the asparagine variant alter the ATM protein's structure, leading to a unique pattern of tissue-specific risks and treatment sensitivities [1]. Large-scale genetic studies demonstrate a highly significant, roughly 15% reduction in the risk of developing cutaneous melanoma [2]. Conversely, this same genetic profile is associated with an estimated 2.7x increase in the odds of developing pancreatic cancer [3]. The altered protein also significantly increases sensitivity to therapeutic radiation, raising the risk of acute skin reactions and tissue fibrosis during cancer treatments [1]. Chemotherapy regimens are similarly more likely to trigger severe nausea and vomiting [4]. While these findings highlight important biological trade-offs, they do not indicate a general increase in overall cancer risk [3].
Reduced risk of cutaneous melanoma; Increased risk of pancreatic cancer; Higher sensitivity to radiotherapy and chemotherapy side effects.
Sample genotype: GA (Heterozygous)
Carrying one copy of the asparagine variant introduces a minor alteration in the ATM kinase protein, though cell repair systems remain highly functional [1]. Susceptibility to major cancers, including pancreatic and breast cancers, remains at typical baseline levels. However, the single variant allele is associated with a modest increase in sensitivity to ionizing radiation during cancer treatment [1]. Meta-analyses of radiotherapy patients indicate a slightly higher likelihood of acute skin reactions and tissue fibrosis [1]. Similarly, standard chemotherapy regimens containing cyclophosphamide or doxorubicin may carry a slightly increased risk of treatment-induced nausea [2]. These mild sensitivities do not significantly alter overall health but provide useful context for clinical treatment planning [1].
Typical baseline cancer risk; Slightly elevated sensitivity to radiotherapy; Slightly higher risk of chemotherapy-induced nausea.
Variants with shared genetic architecture
rs1800057 · ATM Gene · Chr 11 · Cancer Risk
rs189037 · ATM Gene · Chr 11 · Longevity and Disease Risk
rs401681 · CLPTM1L Gene · Chr 5 · Cancer Risk Trade-Off
Rare variants of ATM and risk for Hodgkin's disease and radiation-associated breast cancers.
Variants in the ATM gene associated with a reduced risk of contralateral breast cancer.
Content updated August 2026.
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