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Updated: Mar 10, 2026

Next Generation Sequencing for the Detection of Actionable Mutations in Solid and Liquid Tumors
Published on: September 20, 2016
ATM mutations for surgeons
Sara A Mansfield1, Robert Pilarski2, Doreen M Agnese3
1Department of General Surgery, The Ohio State University College of Medicine, Columbus, OH, USA.
Abstract:
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.
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