title: ATM mutations for surgeons.
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.
authors.affiliation: Department of General Surgery, The Ohio State University College of Medicine, Columbus, OH, USA.
authors.forename: Sara A
authors.initials: SA
authors.lastname: Mansfield
authors.affiliation: Department of Internal Medicine, James Comprehensive Cancer Center, The Ohio State University College of Medicine, Columbus, OH, USA.
authors.forename: Robert
authors.initials: R
authors.lastname: Pilarski
authors.affiliation: Division of Surgical Oncology, Department of Surgery, The Ohio State University College of Medicine, N908 Doan Hall, 410 W 10th Ave, Columbus, OH, 43210, USA. Doreen.agnese@osumc.edu.
authors.forename: Doreen M
authors.initials: DM
authors.lastname: Agnese
mesh_terms: D000328:Adult; D064007:Ataxia Telangiectasia Mutated Proteins / Q000235:genetics*; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D008875:Middle Aged; D009154:Mutation; D066231:Surgeons
chemical_list: C576324:ATM protein, human; D064007:Ataxia Telangiectasia Mutated Proteins
keywords: Ataxia-telangiectasia mutation; Breast cancer; Genetic screening