Article Text

Download PDFPDF
ATM germline variants and male breast cancer
  1. Renato Cunha1,
  2. Priscila Nejo2,
  3. Sandra Bento3 and
  4. Fátima Vaz3
  1. 1Medical Oncology Department, Hospital do Espírito Santo de Évora EPE, Évora, Portugal
  2. 2Medical Oncology Department, Instituto Português de Oncologia de Lisboa Francisco Gentil EPE, Lisboa, Portugal
  3. 3Familial Cancer Risk Clinic, Instituto Português de Oncologia de Lisboa Francisco Gentil EPE, Lisboa, Portugal
  1. Correspondence to Dr Renato Cunha; cunha_114{at}


Male breast cancer is rare and has been frequently associated with cancer predisposing variants, particularly in BRCA 1 and BRCA 2 genes. ATM pathogenic variants may also increase risk for breast and other cancers. However, less than 10 cases relating ATM mutations and male breast cancer have been previously reported. Therefore, risk estimates and surveillance recommendations are not well established. We report a case of a male patient with breast cancer found to be heterozygous for a pathogenic ATM variant after multigene testing. We also review the literature regarding increased cancer risk associated with ATM germline variants, with emphasis on potential recommendations for surveillance and follow-up.

  • Breast cancer
  • Genetic screening / counselling
  • Oncology
  • Genetics

Statistics from

Request Permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.


  • Contributors RC was the main author of this article and responsible for the clinical case description and final draft. PN was responsible for the articles review and theoretical basis description. SB and FV were responsible for the review of the case. The authors also provided clinical care to the patient during the described consultations.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Patient consent for publication Obtained.

  • Provenance and peer review Not commissioned; externally peer reviewed.