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

Sapna Syngal, Randall E. Brand, James M. Church, Francis M. Giardiello, Heather L. Hampel, Randall W. Burt

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish (US)
Pages (from-to)223-262
Number of pages40
JournalAmerican Journal of Gastroenterology
Volume110
Issue number2
DOIs
StatePublished - Feb 5 2015

ASJC Scopus subject areas

  • Hepatology
  • Gastroenterology

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