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

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 preliminar...

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Vydáno v:	The American journal of gastroenterology Ročník 110; číslo 2; s. 223 - 262
Hlavní autoři:	Syngal, Sapna, Brand, Randall E, Church, James M, Giardiello, Francis M, Hampel, Heather L, Burt, Randall W
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	United States Wolters Kluwer Health Medical Research, Lippincott Williams & Wilkins 01.02.2015
Témata:	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
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Shrnutí:	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.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Instructional Material/Guideline-3 ObjectType-Review-4 content type line 23
ISSN:	0002-9270 1572-0241 1572-0241
DOI:	10.1038/ajg.2014.435