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Cited by 1,662Genetic factors in colorectal cancerBRCA gene mutations in cancerColorectal Cancer Screening and Detection

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

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Syngal, Sapna, Brand, Randall E, Church, James M, Giardiello, Francis M, Hampel, Heather L, Burt, Randall W·2015·American Journal of Gastroenterology
DOI 10.1038/ajg.2014.435PMC PMC4695986
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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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Metadata

Authors
Syngal, S., Brand, R. E., Church, J. M., Giardiello, F. M., Hampel, H. L., & Burt, R. W.
Affiliations
  • Brigham and Women's Hospital (US)
  • University of Pittsburgh Medical Center (US)
  • Cleveland Clinic (US)
  • Johns Hopkins University (US)
  • The Ohio State University (US)
  • Huntsman Cancer Institute (US)
Corresponding author
Syngal, Sapna
ORCID
Venue
American Journal of Gastroenterology
Publisher
Ovid Technologies (Wolters Kluwer Health)
Published
2015-02
Volume
110
Issue
2
Pages
223-262
ISSN
0002-9270 (ISSN-L)
DOI
10.1038/ajg.2014.435
PMC
PMC4695986
OpenAlex
W2162077547
Cited by
1,662
References
326
Citations by year
2026: 110 · 2025: 118 · 2024: 155 · 2023: 137 · 2022: 172 · 2021: 195 · 2020: 186 · 2019: 160 · 2018: 135 · 2017: 139 · 2016: 110 · 2015: 43
FWCI
113.05
Type
journal article
Language
en
Open access
Licence
Locations
  • The American Journal of Gastroenterology (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • Europe PMC (PubMed Central) (acceptedVersion)
  • PubMed Central (acceptedVersion)
Funders
  • U.S. Public Health Service (K24-11311)
  • National Cancer Institute (P30CA006973)
Topics
  • Health Sciences › Medicine › Pathology and Forensic Medicine › Genetic factors in colorectal cancer
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › BRCA gene mutations in cancer
  • Health Sciences › Medicine › Oncology › Colorectal Cancer Screening and Detection
Keywords
germline genetic testing, Lynch syndrome, familial adenomatous polyposis, attenuated familial adenomatous polyposis, MUTYH-associated polyposis, Peutz-Jeghers syndrome, juvenile polyposis syndrome, Cowden syndrome, serrated polyposis syndrome, hereditary pancreatic cancer, hereditary gastric cancer, cancer surveillance, genetic counseling, family history assessment, cancer susceptibility
MeSH terms
Colorectal Neoplasms, Hereditary Nonpolyposis, Gastrointestinal Neoplasms, Genetic Testing, Hamartoma Syndrome, Multiple, Humans, Neoplastic Syndromes, Hereditary, Peutz-Jeghers Syndrome, Adenomatous Polyposis Coli, Disease Management, Intestinal Polyposis

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