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Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with APC mutation at the extreme 3'-end.


ABSTRACT: Germline mutations of the APC gene, which encodes a multidomain protein of 2843 amino acid residues, cause familial adenomatous polyposis (FAP). Three FAP clinical variants are correlated with the location of APC mutations: (1) classic FAP with profuse polyposis (>1000 adenomas), associated with mutations from codon 1250 to 1424; (2) attenuated FAP (<100 adenomas), associated with mutations at APC extremities (before codon 157 and after codon 1595); (3) classic FAP with intermediate colonic polyposis (100-1000 adenomas), associated with mutations located in the remaining part of APC In an effort to decipher the clinical phenotype associated with APC C-terminal germline truncating mutations in patients with FAP, after screening APC mutations in one family whose members (n=4) developed gastric polyposis, colon oligo-polyposis and desmoid tumours, we performed a literature meta-analysis of clinically characterised patients (n=97) harbouring truncating mutations in APC C-terminus. The APC distal mutations identified in this study cluster with a phenotype characterised by colon oligo-polyposis, diffuse gastric polyposis and desmoid tumours. In conclusion, we describe a novel FAP clinical variant, which we propose to refer to as Gastric Polyposis and Desmoid FAP, that may require tailored management.

SUBMITTER: Disciglio V 

PROVIDER: S-EPMC7231465 | biostudies-literature | 2020 May

REPOSITORIES: biostudies-literature

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Gastric polyposis and desmoid tumours as a new familial adenomatous polyposis clinical variant associated with <i>APC</i> mutation at the extreme 3'-end.

Disciglio Vittoria V   Fasano Candida C   Cariola Filomena F   Forte Giovanna G   Grossi Valentina V   Sanese Paola P   Lepore Signorile Martina M   Resta Nicoletta N   Lotesoriere Claudio C   Stella Alessandro A   Lolli Ivan I   Simone Cristiano C  

Journal of medical genetics 20191007 5


Germline mutations of the APC gene, which encodes a multidomain protein of 2843 amino acid residues, cause familial adenomatous polyposis (FAP). Three FAP clinical variants are correlated with the location of <i>APC</i> mutations: (1) classic FAP with profuse polyposis (>1000 adenomas), associated with mutations from codon 1250 to 1424; (2) attenuated FAP (<100 adenomas), associated with mutations at <i>APC</i> extremities (before codon 157 and after codon 1595); (3) classic FAP with intermediat  ...[more]

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