Format

Send to

Choose Destination
Am J Gastroenterol. 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.

Author information

1
1] Brigham and Women's Hospital, Boston, Massachusetts, USA [2] Dana Farber Cancer Institute, Boston, Massachusetts, USA [3] Harvard Medical School, Boston, Massachusetts, USA.
2
Department of Medicine, Division of Gastroenterology, Hepatology and Nutrition, University of Pittsburgh Medical Center, Pittsburgh, Pennsylvania, USA.
3
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.
4
Johns Hopkins University School of Medicine, Baltimore, Maryland, USA.
5
Department of Internal Medicine, Ohio State University, Columbus, Ohio, USA.
6
Huntsman Cancer Institute, University of Utah School of Medicine, Salt Lake City, Utah, USA.

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.

PMID:
25645574
PMCID:
PMC4695986
DOI:
10.1038/ajg.2014.435
[Indexed for MEDLINE]
Free PMC Article

Supplemental Content

Full text links

Icon for Nature Publishing Group Icon for PubMed Central
Loading ...
Support Center