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10.1038/ajg.2014.435

http://scihub22266oqcxt.onion/10.1038/ajg.2014.435
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suck abstract from ncbi


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pmid25645574
      Am+J+Gastroenterol 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.
  • |Adenomatous Polyposis Coli/diagnosis/*genetics/therapy [MESH]
  • |Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis/*genetics/therapy [MESH]
  • |Disease Management [MESH]
  • |Gastrointestinal Neoplasms/diagnosis/genetics/therapy [MESH]
  • |Genetic Testing/*standards [MESH]
  • |Hamartoma Syndrome, Multiple/diagnosis/*genetics/therapy [MESH]
  • |Humans [MESH]
  • |Intestinal Polyposis/congenital/diagnosis/genetics/therapy [MESH]
  • |Neoplastic Syndromes, Hereditary/diagnosis/genetics/therapy [MESH]


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