ACG clinical guideline: Genetic testing and management of hereditary gastrointestinal cancer syndromes.
Am J Gastroenterol
; 110(2): 223-62; quiz 263, 2015 Feb.
Article
em En
| MEDLINE
| ID: mdl-25645574
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.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Síndrome do Hamartoma Múltiplo
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Síndrome de Peutz-Jeghers
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Neoplasias Colorretais Hereditárias sem Polipose
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Testes Genéticos
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Polipose Adenomatosa do Colo
Tipo de estudo:
Diagnostic_studies
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Guideline
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Prognostic_studies
Limite:
Humans
Idioma:
En
Revista:
Am J Gastroenterol
Ano de publicação:
2015
Tipo de documento:
Article
País de afiliação:
Estados Unidos