title: Management of Individuals With a Mutation in the Ataxia Telangiectasia Mutated Gene.
abstract: Advances in genetic testing have led to the identification of multiple genes associated with a hereditary risk for developing breast and other cancers. One such gene is the ataxia telangiectasia mutated (ATM) gene, which is available on many genetic panels offered to individuals with suspected hereditary risk. Genetic testing can often lead to improved understanding and clarification of risk for developing cancer, as well as allow affected individuals to make informed choices about management, including the adoption of primary prevention strategies and more aggressive screening than typically recommended in the general population. This article provides an overview of the role of mutations in the ATM gene in developing malignancies, along with emerging research on treatment implications based on genetic testing results. .
authors.affiliation: Department of Internal Medicine and in the School of Nursing at Saint Louis University in Missouri.
authors.forename: Suzanne M
authors.identifier: 0000-0003-0919-6444
authors.initials: SM
authors.lastname: Mahon
mesh_terms: D001260:Ataxia Telangiectasia / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D005820:Genetic Testing; D006801:Humans; D009154:Mutation
keywords: ataxia telangiectasia; breast cancer; colon cancer; genetic testing; genetics; hereditary cancer syndromes