ATM-related cancer predisposition: genes and variants
ATM-related cancer predisposition is linked to 1 analyzed protein (ATM). 1 DNA variants are known to cause it; 8 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to ATM-related cancer predisposition
ATM: Serine-protein kinase ATM
It is activated by DNA double-strand breaks and coordinates checkpoint arrest, repair, and apoptosis through phosphorylation of numerous targets. Biallelic loss causes ataxia-telangiectasia, while heterozygous pathogenic variants increase susceptibility to several cancers.
1 disease-causing and 8 uncertain variants in ATM are linked to ATM-related cancer predisposition.
Known disease-causing variants in ATM-related cancer predisposition
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| ATM R1095T | 1095 | Disease-causing (★★★) |
Same protein, different disease
- Ataxia-telangiectasia syndrome is also caused by ATM variants; they fall mostly in different places as the ATM-related cancer predisposition variants (3 disease-causing).
Diseases related to ATM-related cancer predisposition
- Ovarian cancer, also linked to ATM
- Familial cancer of breast, also linked to ATM
- Colorectal cancer, also linked to ATM
- Gastric cancer, also linked to ATM
- Hereditary breast ovarian cancer syndrome, also linked to ATM
- Familial pancreatic carcinoma, also linked to ATM
- Ataxia-telangiectasia syndrome, also linked to ATM
- Familial colorectal cancer, also linked to ATM
Frequently asked questions
Which genes are linked to ATM-related cancer predisposition?
In CATVariant, ATM-related cancer predisposition is linked to 1 analyzed protein: ATM (Serine-protein kinase ATM).
How many genetic variants are linked to ATM-related cancer predisposition?
36 variants: 1 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 8 are of uncertain significance or have conflicting reports.
Which uncertain variants in ATM-related cancer predisposition look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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