ATM

1 article(s) in the watch · Cancer genetics

ATM encodes a kinase central to the DNA double-strand break response. Monoallelic variants confer a moderate cancer risk; biallelic variants cause ataxia-telangiectasia.

InheritanceDominant (moderate risk); recessive for ataxia-telangiectasia

Clinical spectrumBreast, pancreas (heterozygous carriers)

ManagementTailored breast surveillance; caution with radiation in biallelic individuals.

Curated publications

9/10

Reclassification of ATM Missense Variants of Uncertain Significance by Integrating Results from Systematic Functional Assays into an ACMG Points-Based Framework

Hereditary predisposition to breast and pancreatic cancer (moderate penetrance)

Onco6 May 2026

External references

OMIM ↗GeneReviews ↗ClinVar ↗NCBI Gene ↗