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

Vittoria Disciglio, Candida Fasano, Filomena Cariola, Giovanna Forte, Valentina Grossi, Paola Sanese, Martina Lepore Signorile, Nicoletta Resta, Claudio Lotesoriere, Alessandro Stella, Ivan Lolli, Cristiano Simone

Research output: Contribution to journalArticle


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.

Original languageEnglish
JournalJournal of Medical Genetics
Publication statusAccepted/In press - Jan 1 2019



  • APC C-terminus
  • Familial Adenomatous Polyposis
  • Gastric Polyposis
  • Gastric Polyposis and Desmoid FAP

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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