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Semin Diagn Pathol. 2018 May;35(3):170-183. doi: 10.1053/j.semdp.2018.01.004. Epub 2018 Jan 31.

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

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Department of Pathology, University Medical Center Utrecht, Utrecht (UMCU), The Netherlands.
Departments of Pathology, Centro Hospitalar São João/Faculty of Medicine of Porto University and Institute for Research and Innovation in Health/Institute of Molecular Pathology and Immunology of the University of Porto (Ipatimup), Porto, Portugal.
Department of Pathology Johns Hopkins Hospital, Baltimore, MD, USA.
Department of Pathology, University Medical Center Utrecht, Utrecht (UMCU), The Netherlands. Electronic address:


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.


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

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