Familial Cancer

, Volume 16, Issue 3, pp 407–410 | Cite as

ATM mutations for surgeons

  • Sara A. Mansfield
  • Robert Pilarski
  • Doreen M. AgneseEmail author
Short Communication


The ataxia-telangiectasia mutated (ATM) gene encodes a protein kinase involved in DNA repair. Heterozygotic carriers are at an increased risk of developing breast cancer. As the use of genetic testing increases, identification of at-risk patients will also increase. The aim of this study is to review two cases of heterozygous ATM mutation carriers and review the literature to clarify the cancer risks and suggested management for breast surgeons who will be intimately involved in the care of these patients.


Ataxia-telangiectasia mutation Breast cancer Genetic screening 


Compliance with ethical standards

Conflict of interest

The authors report that they have no conflicts of interest to report.


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Copyright information

© Springer Science+Business Media Dordrecht 2016

Authors and Affiliations

  • Sara A. Mansfield
    • 1
  • Robert Pilarski
    • 2
  • Doreen M. Agnese
    • 3
    Email author
  1. 1.Department of General SurgeryThe Ohio State University College of MedicineColumbusUSA
  2. 2.Department of Internal Medicine, James Comprehensive Cancer CenterThe Ohio State University College of MedicineColumbusUSA
  3. 3.Division of Surgical Oncology, Department of SurgeryThe Ohio State University College of MedicineColumbusUSA

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