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Description

  • The ataxia telangiectasia mutant (ATM) gene is implicated in DNA damage repair.
  • A pathogenic germline variant of the ATM gene is present in approximately 1% of the population.
  • ATM gene variant increases radiation sensitivity and elevates the life-time risk of developing breast cancer by two- to four-fold.
  • Potential for increased radiosensitivity poses concern for the utilization of radiation therapy (RT) for oncologic treatment in patients with the ATM gene variant.
  • Current data regarding RT tolerance are limited and conflicting in this patient population.
  • Current guidelines for hereditary breast cancer management issued jointly by the American Society for Radiation Oncology, American Society of Clinical Oncology, and the Society of Surgical Oncology in 2020 recommend that radiation should not be avoided in patients with the pathogenic ATM variant, but the quality of evidence supporting this recommendation was low with moderate strength at the time.

Publication Date

5-2024

Keywords

breast neoplasm, DNA

Disciplines

Oncology | Radiology

Comments

The Embark Capstone Colloquium at the Oakland University William Beaumont School of Medicine, Rochester Hills, MI, May, 2024.

Breast Irradiation is Well Tolerated in Carriers of a Pathogenic ATM Variant

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