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Article

c.1227_1228dupGG (p.Glu410Glyfs), a frequent variant in Tunisian patients with MUTYH associated polyposis.

Cancer genetics - 1 Jan 2020

Kdissa Ameni, Brusgaard Klaus, Ksiaa Mahdi, Golli Lamia, Hallara Olfa, Ousager Lilian Bomme, Manoubi Wiem, Seghaier Rihab Ben, Adala Labiba, Halleb Yosra, Saad Ali, Hmila Fahmi, Gribaa Moez

Abstract excerpt

INTRODUCTION: Familial adenomatous polyposis (FAP) is an autosomal dominant-inherited disease caused by germline variants in the APC gene. It is characterized by the development of hundreds to thousands of adenomatous polyps in colon and rectum. Recently, biallelic germline variants in the base excision repair (BER) gene: MUTYH have been identified in patients with attenuated FAP and/or negative APC result. It...

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PMID: 31739127
DOI: 10.1016/j.cancergen.2019.10.007

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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