NDLI: A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Tunisian family with FAP

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A novel pathogenic germline mutation in the adenomatous polyposis coli gene in a Tunisian family with FAP

Content Provider	Springer Nature Link
Author	Miladi Abdennadher, Imen Amouri, Ali Ayadi, Lobna Khabir, Abdelmajid Ellouze, Sameh Tahri, Nabil Frikha, Mounir Sellami Boudawara, Tahia Mokdad Gargouri, Raja
Copyright Year	2011
Abstract	Familial adenomatous polyposis (FAP) is an autosomal dominant disorder which typically presents with colorectal cancer in early adult life, secondary to extensive adenomatous polyps of the colon. In addition to the colonic manifestations, the syndrome presents several extracolonic features including, congenital hypertrophy of the retinal pigment, osteomata and desmoid tumors. In this study, we aimed to investigate the clinical and genetic features in a Tunisian family with FAP. Sequence of the APC gene (Adenomatous Polyposis Coli) revealed a novel mutation (c.2016-2017 del TA) in exon 15, present in all affected individuals in an heterozygous state. The frameshift mutation generates a premature stop codon at amino acid 677 of the APC protein (p. H672Qfs X5). The unaffected family members did not harbor this mutation, however, a first degree relative of the patient aged of 32 year-old was phenotypically normal but carries the c.2016-2017 del TA mutation. This discrepancy can be explained by the effect of modifier gene which can affect the expressivity of the disease.
Starting Page	567
Ending Page	571
Page Count	5
File Format	PDF
ISSN	13899600
Journal	Familial Cancer
Volume Number	10
Issue Number	3
e-ISSN	15737292
Language	English
Publisher	Springer Netherlands
Publisher Date	2011-05-20
Publisher Place	Dordrecht
Access Restriction	One Nation One Subscription (ONOS)
Subject Keyword	APC gene Adenomatous familial polyposis Intra familial phenotypic variation Epidemiology Biomedicine general Cancer Research Human Genetics
Content Type	Text
Resource Type	Article
Subject	Genetics Cancer Research Genetics (clinical) Oncology

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