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Review
. 2017 Jul;16(3):407-410.
doi: 10.1007/s10689-016-9959-4.

ATM mutations for surgeons

Sara A Mansfield  1 , Robert Pilarski  2 , Doreen M Agnese  3
Affiliations
Review

ATM mutations for surgeons

Sara A Mansfield et al. Fam Cancer. 2017 Jul.

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.

Keywords: Ataxia-telangiectasia mutation; Breast cancer; Genetic screening.

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