title: Heritable Gastrointestinal Cancer Syndromes.
abstract: Although almost all gastrointestinal cancers develop from sporadic genomic events, approximately 5% arise from germline mutations in genes associated with cancer predisposition. The number of these genes continues to increase. Tumor phenotypes and family history provide the framework for identifying at-risk individuals. The diagnosis of a hereditary cancer syndrome has implications for management of patients and their families. Systematic approaches that integrate family history and molecular characterization of tumors and polyps facilitate identification of individuals with this genetic predisposition. This article summarizes diagnosis and management of hereditary cancer syndromes associated with gastrointestinal cancers.
authors.affiliation: Division of Gastroenterology, Department of Internal Medicine, University of Michigan Health System, 2150A Cancer Center, Ann Arbor, MI 48109, USA. Electronic address: estoffel@med.umich.edu.
authors.forename: Elena M
authors.initials: EM
authors.lastname: Stoffel
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000235:genetics; D021441:Carcinoma, Pancreatic Ductal / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D015179:Colorectal Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006223:Hamartoma Syndrome, Multiple / Q000235:genetics; D061325:Hereditary Breast and Ovarian Cancer Syndrome / Q000235:genetics; D006801:Humans; D016864:Li-Fraumeni Syndrome / Q000235:genetics; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010190:Pancreatic Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D010580:Peutz-Jeghers Syndrome / Q000235:genetics; D013274:Stomach Neoplasms / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy
keywords: Gastrointestinal cancer; Genetics; Hereditary syndromes