Hereditary gastrointestinal carcinomas and their precursors: An algorithm for genetic testing

Clothaire P.E. Spoto, Irene Gullo, Fatima Carneiro, Elizabeth A. Montgomery, Lodewijk A.A. Brosens

Research output: Contribution to journalReview articlepeer-review


Recognition of hereditary forms of gastrointestinal cancer is of great importance for patients and their families and pathologists play a crucial role in this. This review recapitulates the clinical, pathological and molecular aspects of Hereditary Diffuse Gastric Cancer and Gastric Adenocarcinoma and Proximal Polyposis of the Stomach, as well as hereditary colorectal cancer syndromes such as Lynch syndrome and gastrointestinal polyposis syndromes (including Familial Adenomatous Polyposis, Peutz-Jeghers syndrome and Juvenile Polyposis syndrome). Histopathological clues to recognize hereditary forms of gastrointestinal cancer and possible ancillary studies that can support an underlying syndrome and guide genetic testing are discussed.

Original languageEnglish (US)
Pages (from-to)170-183
Number of pages14
JournalSeminars in Diagnostic Pathology
Issue number3
StatePublished - May 2018


  • Colon cancer
  • Colorectal cancer
  • Cowden syndrome
  • Familial adenomatous polyposis
  • Gastric adenocarcinoma and proximal polyposis of the stomach
  • Gastric cancer
  • Hereditary cancer syndrome
  • Hereditary diffuse gastric cancer
  • Hereditary nonpolyposis colorectal cancer
  • Juvenile polyposis syndrome
  • Lynch syndrome
  • Peutz-Jeghers syndrome
  • Rectal cancer
  • Serrated polyposis syndrome

ASJC Scopus subject areas

  • Pathology and Forensic Medicine


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