Literature DB >> 29397239

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

Clothaire P E Spoto1, Irene Gullo2, Fatima Carneiro2, Elizabeth A Montgomery3, Lodewijk A A Brosens4.   

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.
Copyright © 2018 Elsevier Inc. All rights reserved.

Entities:  

Keywords:  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

Mesh:

Substances:

Year:  2018        PMID: 29397239     DOI: 10.1053/j.semdp.2018.01.004

Source DB:  PubMed          Journal:  Semin Diagn Pathol        ISSN: 0740-2570            Impact factor:   3.464


  6 in total

1.  Juvenile polyposis diagnosed with an integrated histological, immunohistochemical and molecular approach identifying new SMAD4 pathogenic variants.

Authors:  Andrea Mafficini; Lodewijk A A Brosens; Maria L Piredda; Cristian Conti; Paola Mattiolo; Giulia Turri; Maria G Mastrosimini; Sara Cingarlini; Stefano F Crinò; Matteo Fassan; Paola Piccoli; Michele Simbolo; Alessia Nottegar; Rita T Lawlor; Alfredo Guglielmi; Aldo Scarpa; Corrado Pedrazzani; Claudio Luchini
Journal:  Fam Cancer       Date:  2022-01-25       Impact factor: 2.375

Review 2.  The evolving role of endoscopy in the diagnosis of premalignant gastric lesions.

Authors:  William Waddingham; David Graham; Matthew Banks; Marnix Jansen
Journal:  F1000Res       Date:  2018-06-08

Review 3.  Rare Hereditary Gynecological Cancer Syndromes.

Authors:  Takafumi Watanabe; Shu Soeda; Yuta Endo; Chikako Okabe; Tetsu Sato; Norihito Kamo; Makiko Ueda; Manabu Kojima; Shigenori Furukawa; Hidekazu Nishigori; Toshifumi Takahashi; Keiya Fujimori
Journal:  Int J Mol Sci       Date:  2022-01-29       Impact factor: 5.923

Review 4.  Hereditary Diffuse Gastric Cancer: Molecular Genetics, Biological Mechanisms and Current Therapeutic Approaches.

Authors:  Lidia-Sabina Cosma; Sophie Schlosser; Hauke C Tews; Martina Müller; Arne Kandulski
Journal:  Int J Mol Sci       Date:  2022-07-15       Impact factor: 6.208

5.  Implications of Splicing Alterations in the Onset and Phenotypic Variability of a Family with Subclinical Manifestation of Peutz-Jeghers Syndrome: Bioinformatic and Molecular Evidence.

Authors:  Andrea Cerasuolo; Francesca Cammarota; Francesca Duraturo; Annamaria Staiano; Massimo Martinelli; Erasmo Miele; Paola Izzo; Marina De Rosa
Journal:  Int J Mol Sci       Date:  2020-11-02       Impact factor: 5.923

Review 6.  Precancerous lesions of the stomach, gastric cancer and hereditary gastric cancer syndromes.

Authors:  Irene Gullo; Federica Grillo; Luca Mastracci; Alessandro Vanoli; Fatima Carneiro; Luca Saragoni; Francesco Limarzi; Jacopo Ferro; Paola Parente; Matteo Fassan
Journal:  Pathologica       Date:  2020-09
  6 in total

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