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Cancer risks for ATM variant heterozygotes.

Yue Jiao1, David E Goldgar2, Dorothée Le Gal1

  • 1Inserm, U1331, Institut Curie, PSL Research University, Mines Paris, Paris, France.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|April 29, 2026
PubMed
Summary
This summary is machine-generated.

Individuals with ATM pathogenic variants (PV/PPV) have increased risks for breast and pancreatic cancers. This study quantines these risks to aid clinical management in affected families.

Keywords:
ATMCancerPenetranceRiskVariants

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Area of Science:

  • Genetics
  • Oncology
  • Epidemiology

Background:

  • Cancer risks for individuals with ATM pathogenic or predicted pathogenic variants (PV/PPV) heterozygosity are not well-defined.
  • Precise risk estimation is crucial for effective clinical management and genetic counseling.

Purpose of the Study:

  • To estimate cancer risks in individuals heterozygous for ATM PV/PPV across different family settings.
  • To provide data that can inform clinical management strategies for families with ATM variants.

Main Methods:

  • Utilized data from French nationwide epidemiological studies (CoF-AT2, TUMOSPEC, GENESIS).
  • Included families with ataxia-telangiectasia, hereditary breast and ovarian cancer, and pancreatic cancer history.
  • Employed modified segregation analysis to estimate hazard ratios (HR) and cumulative risks.

Main Results:

  • Observed significantly increased risks for female breast cancer (HR=4.0) and both female (HR=6.6) and male (HR=2.8) pancreatic cancers.
  • Estimated cumulative breast cancer risk by age 80 for females born 1960-1969 at 40%.
  • Estimated cumulative pancreatic cancer risk by age 80 for females at 8.1% and males at 5.1%.

Conclusions:

  • Findings clarify cancer risks associated with ATM PV/PPV heterozygosity.
  • Results will aid in the clinical management of families carrying ATM pathogenic variants.
  • No increased risk for ovarian or prostate cancers was detected.