Literature DB >> 28842050

Hereditary or sporadic polyposis syndromes.

Gianluca Basso1, Paolo Bianchi1, Alberto Malesci2, Luigi Laghi3.   

Abstract

Polyposis syndromes are encountered in endoscopy practice, and are considered rare entities, accounting for ≤1% of colorectal cancer. Polyposis can occur within inherited syndromes or as "sporadic" cases of unknown etiology. Their proper characterization is relevant for patient management, and should nowadays drive appropriate genetic tests which have a key role in clinical practice for driving surveillance and colorectal cancer prevention, enlarged to relatives. Polyposis classification is based upon polyp number and histology, familial and personal history. This review will explore the polyposis nosology and their genetic determinants in the emerging scenario of Next Generation Sequencing which allow testing multiples genes in parallel. This capability will likely continue to increase the range of polyposis predisposing genes, contributing to define new clinical entities.
Copyright © 2017 Elsevier Ltd. All rights reserved.

Entities:  

Keywords:  Colorectal cancer; Inherited predisposition; Next generation sequencing; Polyposis

Mesh:

Year:  2017        PMID: 28842050     DOI: 10.1016/j.bpg.2017.05.011

Source DB:  PubMed          Journal:  Best Pract Res Clin Gastroenterol        ISSN: 1521-6918            Impact factor:   3.043


  5 in total

Review 1.  Evolving notions on immune response in colorectal cancer and their implications for biomarker development.

Authors:  Fabio Grizzi; Gianluca Basso; Elena Monica Borroni; Tommaso Cavalleri; Paolo Bianchi; Sanja Stifter; Maurizio Chiriva-Internati; Alberto Malesci; Luigi Laghi
Journal:  Inflamm Res       Date:  2018-01-10       Impact factor: 4.575

2.  A Rare Case of Juvenile Polyposis Syndrome Mimicking Ménétrier's Disease.

Authors:  Michelle Bernshteyn; Abdul Q Bhutta; Jozsef Bordas; Rohin Mehta; Muhammad Osman Arif
Journal:  Cureus       Date:  2022-03-22

3.  Early Onset Multiple Primary Tumors in Atypical Presentation of Cowden Syndrome Identified by Whole-Exome-Sequencing.

Authors:  Mathias Cavaillé; Flora Ponelle-Chachuat; Nancy Uhrhammer; Sandrine Viala; Mathilde Gay-Bellile; Maud Privat; Yannick Bidet; Yves-Jean Bignon
Journal:  Front Genet       Date:  2018-08-31       Impact factor: 4.599

4.  Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.

Authors:  Bryce A Seifert; Jennifer L McGlaughon; Sarah A Jackson; Deborah I Ritter; Maegan E Roberts; Ryan J Schmidt; Bryony A Thompson; Sharisse Jimenez; Mackenzie Trapp; Kristy Lee; Sharon E Plon; Kenneth Offit; Zsofia K Stadler; Liying Zhang; Marc S Greenblatt; Matthew J Ferber
Journal:  Genet Med       Date:  2018-12-07       Impact factor: 8.822

5.  Glutathione S-transferase gene polymorphisms and risk of nasal or colorectal polyposis.

Authors:  Yonglan Zhang; Haichao Zhang; Peng Lin; Guimin Zhang
Journal:  Biosci Rep       Date:  2019-01-25       Impact factor: 3.840

  5 in total

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