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Hereditary gastrointestinal carcinomas and their precursors: An algorithm for genetic testing |
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| Affiliation: | 1. Department of Pathology, University Medical Center Utrecht, Utrecht (UMCU), The Netherlands;2. 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;3. Department of Pathology Johns Hopkins Hospital, Baltimore, MD, USA;1. Clinical Cooperation Unit Molecular Hematology / Oncology, German Cancer Research Center (DKFZ) and Department of Medicine V, University of Heidelberg, Heidelberg, Germany;2. Department of Internal Medicine V, Hematology / Oncology, University of Heidelberg, Heidelberg, Germany;3. Department of Internal Medicine III, Oncology / Hematology / Palliative Care, Marienhospital Stuttgart, Stuttgart, Germany |
| Abstract: | 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. |
| Keywords: | Hereditary diffuse gastric cancer Lynch syndrome Hereditary nonpolyposis colorectal cancer Familial adenomatous polyposis Gastric adenocarcinoma and proximal polyposis of the stomach Peutz-Jeghers syndrome Juvenile polyposis syndrome Cowden syndrome Serrated polyposis syndrome Colorectal cancer Colon cancer Rectal cancer Gastric cancer Hereditary cancer syndrome |
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