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Review
. 2015 Feb;110(2):223-62; quiz 263.
doi: 10.1038/ajg.2014.435. Epub 2015 Feb 3.

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes

Sapna Syngal  1 , Randall E Brand  2 , James M Church  3 , Francis M Giardiello  4 , Heather L Hampel  5 , Randall W Burt  6 ; American College of Gastroenterology
Affiliations
Review

ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes

Sapna Syngal et al. Am J Gastroenterol. 2015 Feb.

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.

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