ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes

• Published in: The American journal of gastroenterology Vol. 110; no. 2; pp. 223 - 262
• Main Authors: Syngal, Sapna, Brand, Randall E, Church, James M, Giardiello, Francis M, Hampel, Heather L, Burt, Randall W
• Format: Journal Article
• Language: English
• Published: United States Wolters Kluwer Health Medical Research, Lippincott Williams & Wilkins 01.02.2015
• Subjects: Adenomatous Polyposis Coli - diagnosis; Adenomatous Polyposis Coli - genetics; Adenomatous Polyposis Coli - therapy; Colorectal Neoplasms, Hereditary Nonpolyposis - diagnosis; Colorectal Neoplasms, Hereditary Nonpolyposis - genetics; Colorectal Neoplasms, Hereditary Nonpolyposis - therapy; Disease Management; Gastroenterology; Gastrointestinal Neoplasms - diagnosis; Gastrointestinal Neoplasms - genetics; Gastrointestinal Neoplasms - therapy; Genetic Testing - standards; Hamartoma Syndrome, Multiple - diagnosis; Hamartoma Syndrome, Multiple - genetics; Hamartoma Syndrome, Multiple - therapy; Humans; Intestinal Polyposis - congenital; Intestinal Polyposis - diagnosis; Intestinal Polyposis - genetics; Intestinal Polyposis - therapy; Neoplastic Syndromes, Hereditary - diagnosis; Neoplastic Syndromes, Hereditary - genetics; Neoplastic Syndromes, Hereditary - therapy; Peutz-Jeghers Syndrome - diagnosis; Peutz-Jeghers Syndrome - genetics; Peutz-Jeghers Syndrome - therapy
• ISSN: 0002-9270; 1572-0241; 1572-0241
• DOI: 10.1038/ajg.2014.435

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.