title: ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
abstract: This guideline presents recommendations for the management of patients with hereditary gastrointestinal cancer syndromes. The initial assessment is the collection of a family history of cancers and premalignant gastrointestinal conditions and should provide enough information to develop a preliminary determination of the risk of a familial predisposition to cancer. Age at diagnosis and lineage (maternal and/or paternal) should be documented for all diagnoses, especially in first- and second-degree relatives. When indicated, genetic testing for a germline mutation should be done on the most informative candidate(s) identified through the family history evaluation and/or tumor analysis to confirm a diagnosis and allow for predictive testing of at-risk relatives. Genetic testing should be conducted in the context of pre- and post-test genetic counseling to ensure the patient's informed decision making. Patients who meet clinical criteria for a syndrome as well as those with identified pathogenic germline mutations should receive appropriate surveillance measures in order to minimize their overall risk of developing syndrome-specific cancers. This guideline specifically discusses genetic testing and management of Lynch syndrome, familial adenomatous polyposis (FAP), attenuated familial adenomatous polyposis (AFAP), MUTYH-associated polyposis (MAP), Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated (hyperplastic) polyposis syndrome, hereditary pancreatic cancer, and hereditary gastric cancer.
authors: 1] Brigham and Women's Hospital, Boston, Massachusetts, USA [2] Dana Farber Cancer Institute, Boston, Massachusetts, USA [3] Harvard Medical School, Boston, Massachusetts, USA.
authors: Sapna
authors: S
authors: Syngal
authors: Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.
authors: Randall E
authors: RE
authors: Brand
authors: 1] Department of Colorectal Surgery, Cleveland Clinic, Cleveland, Ohio, USA [2] Sanford R Weiss, MD, Center for Hereditary Colorectal Neoplasia, Cleveland Clinic Foundation, Cleveland, Ohio, USA [3] Digestive Disease Institute, Cleveland Clinic Foundation, Cleveland, Ohio, USA.
authors: James M
authors: JM
authors: Church
authors: Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
authors: Francis M
authors: FM
authors: Giardiello
authors: Department of Internal Medicine, Ohio State University, Columbus, Ohio, USA.
authors: Heather L
authors: HL
authors: Hampel
authors: Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.
authors: Randall W
authors: RW
authors: Burt
mesh_terms: D011125:Adenomatous Polyposis Coli / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D003123:Colorectal Neoplasms, Hereditary Nonpolyposis / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D019468:Disease Management; D005770:Gastrointestinal Neoplasms / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D005820:Genetic Testing / Q000592:standards*; D006223:Hamartoma Syndrome, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy; D006801:Humans; D044483:Intestinal Polyposis / Q000151:congenital / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D009386:Neoplastic Syndromes, Hereditary / Q000175:diagnosis / Q000235:genetics / Q000628:therapy; D010580:Peutz-Jeghers Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000628:therapy
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