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.

Hereditary or sporadic polyposis syndromes / G. Basso, P. Bianchi, A. Malesci, L. Laghi. - In: BAILLIERE'S BEST PRACTICE & RESEARCH. CLINICAL GASTROENTEROLOGY. - ISSN 1521-6918. - 31:4(2017 Aug), pp. 409-417. [10.1016/j.bpg.2017.05.011]

Hereditary or sporadic polyposis syndromes

G. Basso
Primo
;
A. Malesci
Penultimo
;
2017-08

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.
Colorectal cancer; Inherited predisposition; Next generation sequencing; Polyposis; Gastroenterology
Settore MED/12 - Gastroenterologia
Settore MED/09 - Medicina Interna
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/522173
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