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2015 ; 110
(2
): 223-62; quiz 263
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ACG clinical guideline: Genetic testing and management of hereditary
gastrointestinal cancer syndromes
#MMPMID25645574
Syngal S
; Brand RE
; Church JM
; Giardiello FM
; Hampel HL
; Burt RW
Am J Gastroenterol
2015[Feb]; 110
(2
): 223-62; quiz 263
PMID25645574
show ga
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.