The American Journal of Gastroenterology· 2015Q1· Guideline
ACG Clinical Guideline: Genetic Testing and Management of Hereditary Gastrointestinal Cancer Syndromes
- 1,642citations
- Q1SCImago
- 2015year
Short summary
This guideline provides recommendations for identifying and managing hereditary gastrointestinal (GI) cancer syndromes through family history evaluation, genetic testing, and tailored surveillance. It covers Lynch syndrome, FAP, AFAP, MAP, Peutz-Jeghers, juvenile polyposis, Cowden, serrated polyposis, and hereditary pancreatic and gastric cancers.
AI-generated from the title and abstract; the full text is not read.
Key points
- Family history collection is crucial for preliminary risk assessment of hereditary GI cancer predisposition.
- Genetic testing for germline mutations should target informative candidates identified via family history or tumor analysis.
- Pre- and post-test genetic counseling is essential for informed decision-making.
- Patients with clinical criteria or identified mutations require syndrome-specific surveillance to minimize cancer risk.
- The guideline details management for Lynch syndrome, FAP, AFAP, MAP, Peutz-Jeghers, juvenile polyposis, Cowden, serrated polyposis, and hereditary pancreatic/gastric cancers.
AI-generated from the title and abstract; the full text is not read.
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.
The authors' abstract, as published at the source. The American Journal of Gastroenterology, 2015 · DOI ↗
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Field: Pathology and Forensic Medicine
Pathology and Forensic MedicineMedicine