Please use this identifier to cite or link to this item: http://hdl.handle.net/11452/24944
Title: Investigation of APC mutations in a Turkish familial adenomatous polyposis family by heterodublex analysis
Authors: Menigatti, Mirco
Benatti, Piero
Pedroni, Monica
Scarselli, Alessandra
Borghi, Francesca
Sala, Elisa
Ponz de Leon, Maurizio
Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji ve Genetik Anabilim Dalı.
Uludağ Üniversitesi/Tıp Fakültesi/Genel Cerrahi Anabilim Dalı.
Uludağ Üniversitesi/Tıp Fakültesi/Patoloji Anabilim Dalı.
0000-0001-7904-883X
0000-0002-1619-6680
0000-0002-3820-424X
Tunca, Berrin
Egeli, Ünal
Çeçener, Gülşah
Yılmazlar, Tuncay
Zorluoǧlu, Abdullah
Yerci, Ömer
AAH-1420-2021
ABI-6078-2020
AAP-9988-2020
6602965754
55665145000
6508156530
6701800362
6602076843
6603810549
Keywords: Gastroenterology & hepatology
Surgery
Familial adenomatous polyposis
Adenomatous polyposis coli mutation
Turkish population
Heterodublex analysis
Germ-line mutations
Retinal-pigment epithelium
Colorectal-cancer
Severe phenotype
Gene mutation
Genotype
Hypertrophy
Expression
Number
Tumors
Issue Date: Mar-2005
Publisher: Lippincott Williams & Wilkins
Citation: Tunca, B. vd. (2005). "Investigation of APC mutations in a Turkish familial adenomatous polyposis family by heterodublex analysis". Diseases of the Colon and Rectum, 48(3), 567-571.
Abstract: PURPOSE: Familial adenomatous polyposis is an autosomal dominant disease characterized by the presence of 100 or more colorectal adenomatous polyps. Mutations in the adenomatous polyposis coli gene are primarily responsible for the development of this disease. This study was designed to investigation of adenomatous polyposis coli (APC) gene mutations in members of familial adenomatous polyposis family to identify individuals at risk of the disease. METHODS: We examined one patient with familial adenomatous polyposis and 21 family members including one affected person from familial adenomatous polyposis and 20 nonsymptomatic persons. We studied E, D, F, and G segments of exon 15 of the adenomatous polyposis coli gene by heteroduplex analysis. RESULTS: We used silver staining method for staining. We found a mutation for five persons at segment F of exon 15 of the adenomatous polyposis coli gene. Two of them were affected by colorectal cancer, one of whom was the proband, and the other three were non-symptomatic family members. The pathogenetic mutation was a T deletion at codon 1172, causing a frameshift in the adenomatous polyposis coli gene, as a result of the sequencing analysis of these cases. CONCLUSIONS: Investigation of adenomatous polyposis coli gene mutations is very important for the identification of genetic susceptibility to colorectal cancer and for the definition of tumor developing at an early stage. Furthermore, the identification of this mutation for the first time in a Turkish family will be useful to foster further studies on familial adenomatous polyposis in Turkey.
Description: Bu çalışma, 25-28 Mayıs 2002 tarihleri arasında Strasbourg[Fransa]’da düzenlenen European-Society-of-Human-Genetics European Human Genetics Conference in Conjuction With European Meeting on Psychosocial Aspects of Genetics’ da bildiri olarak sunulmuştur.
URI: https://doi.org/10.1007/s10350-004-0799-1
https://journals.lww.com/dcrjournal/Abstract/2005/48030/Investigation_ofAPCMutations_in_a_Turkish_Familial.22.aspx
https://pubmed.ncbi.nlm.nih.gov/15719192/
http://hdl.handle.net/11452/24944
ISSN: 0012-3706
Appears in Collections:PubMed
Scopus
Web of Science

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