Please use this identifier to cite or link to this item: http://hdl.handle.net/11452/24944
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dc.contributor.authorMenigatti, Mirco-
dc.contributor.authorBenatti, Piero-
dc.contributor.authorPedroni, Monica-
dc.contributor.authorScarselli, Alessandra-
dc.contributor.authorBorghi, Francesca-
dc.contributor.authorSala, Elisa-
dc.contributor.authorPonz de Leon, Maurizio-
dc.date.accessioned2022-03-11T07:29:55Z-
dc.date.available2022-03-11T07:29:55Z-
dc.date.issued2005-03-
dc.identifier.citationTunca, 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.en_US
dc.identifier.issn0012-3706-
dc.identifier.urihttps://doi.org/10.1007/s10350-004-0799-1-
dc.identifier.urihttps://journals.lww.com/dcrjournal/Abstract/2005/48030/Investigation_ofAPCMutations_in_a_Turkish_Familial.22.aspx-
dc.identifier.urihttps://pubmed.ncbi.nlm.nih.gov/15719192/-
dc.identifier.urihttp://hdl.handle.net/11452/24944-
dc.descriptionBu 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.tr_TR
dc.description.abstractPURPOSE: 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.en_US
dc.description.sponsorshipEuropean Soc Human Geneten_US
dc.language.isoenen_US
dc.publisherLippincott Williams & Wilkinsen_US
dc.rightsinfo:eu-repo/semantics/closedAccessen_US
dc.subjectGastroenterology & hepatologyen_US
dc.subjectSurgeryen_US
dc.subjectFamilial adenomatous polyposisen_US
dc.subjectAdenomatous polyposis coli mutationen_US
dc.subjectTurkish populationen_US
dc.subjectHeterodublex analysisen_US
dc.subjectGerm-line mutationsen_US
dc.subjectRetinal-pigment epitheliumen_US
dc.subjectColorectal-canceren_US
dc.subjectSevere phenotypeen_US
dc.subjectGene mutationen_US
dc.subjectGenotypeen_US
dc.subjectHypertrophyen_US
dc.subjectExpressionen_US
dc.subjectNumberen_US
dc.subjectTumorsen_US
dc.subject.meshAdenomatous polyposis colien_US
dc.subject.meshAdulten_US
dc.subject.meshColorectal neoplasmsen_US
dc.subject.meshDna mutational analysisen_US
dc.subject.meshFemaleen_US
dc.subject.meshGenes, apcen_US
dc.subject.meshGenetic predisposition to diseaseen_US
dc.subject.meshHeteroduplex analysisen_US
dc.subject.meshHumansen_US
dc.subject.meshMaleen_US
dc.subject.meshPedigreeen_US
dc.subject.meshTurkeyen_US
dc.titleInvestigation of APC mutations in a Turkish familial adenomatous polyposis family by heterodublex analysisen_US
dc.typeArticleen_US
dc.typeProceedings Paperen_US
dc.identifier.wos000228144000023tr_TR
dc.identifier.scopus2-s2.0-20044370671tr_TR
dc.relation.publicationcategoryKonferans Öğesi - Uluslararasıtr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji ve Genetik Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Genel Cerrahi Anabilim Dalı.tr_TR
dc.contributor.departmentUludağ Üniversitesi/Tıp Fakültesi/Patoloji Anabilim Dalı.tr_TR
dc.contributor.orcid0000-0001-7904-883Xtr_TR
dc.contributor.orcid0000-0002-1619-6680tr_TR
dc.contributor.orcid0000-0002-3820-424Xtr_TR
dc.identifier.startpage567tr_TR
dc.identifier.endpage571tr_TR
dc.identifier.volume48tr_TR
dc.identifier.issue3tr_TR
dc.relation.journalDiseases of the Colon and Rectumen_US
dc.contributor.buuauthorTunca, Berrin-
dc.contributor.buuauthorEgeli, Ünal-
dc.contributor.buuauthorÇeçener, Gülşah-
dc.contributor.buuauthorYılmazlar, Tuncay-
dc.contributor.buuauthorZorluoǧlu, Abdullah-
dc.contributor.buuauthorYerci, Ömer-
dc.contributor.researcheridAAH-1420-2021tr_TR
dc.contributor.researcheridABI-6078-2020tr_TR
dc.contributor.researcheridAAP-9988-2020tr_TR
dc.relation.collaborationYurt dışıtr_TR
dc.identifier.pubmed15719192tr_TR
dc.subject.wosGastroenterology & hepatologyen_US
dc.subject.wosSurgeryen_US
dc.indexed.wosSCIEen_US
dc.indexed.wosCPCISen_US
dc.indexed.scopusScopusen_US
dc.indexed.pubmedPubmeden_US
dc.wos.quartileQ2 (Gastroenterology & hepatology)en_US
dc.wos.quartileQ1 (Surgery)en_US
dc.contributor.scopusid6602965754tr_TR
dc.contributor.scopusid55665145000tr_TR
dc.contributor.scopusid6508156530tr_TR
dc.contributor.scopusid6701800362tr_TR
dc.contributor.scopusid6602076843tr_TR
dc.contributor.scopusid6603810549tr_TR
dc.subject.scopusAdenomatous Polyposis Coli; APC Gene; Polyposisen_US
dc.subject.emtreeApc proteinen_US
dc.subject.emtreeSilveren_US
dc.subject.emtreeAdenomatous polypen_US
dc.subject.emtreeAdulten_US
dc.subject.emtreeArticleen_US
dc.subject.emtreeCancer stagingen_US
dc.subject.emtreeClinical articleen_US
dc.subject.emtreeCodonen_US
dc.subject.emtreeColon polyposisen_US
dc.subject.emtreeColorectal canceren_US
dc.subject.emtreeExonen_US
dc.subject.emtreeFamilial diseaseen_US
dc.subject.emtreeFemaleen_US
dc.subject.emtreeGene deletionen_US
dc.subject.emtreeGene mutationen_US
dc.subject.emtreeGenetic analysisen_US
dc.subject.emtreeGenetic identificationen_US
dc.subject.emtreeGenetic susceptibilityen_US
dc.subject.emtreeHeteroduplex analysisen_US
dc.subject.emtreeHumanen_US
dc.subject.emtreePathogenesisen_US
dc.subject.emtreeRisk assessmenten_US
dc.subject.emtreeSequence analysisen_US
dc.subject.emtreeStainingen_US
dc.subject.emtreeTumor growthen_US
dc.subject.emtreeColon polyposisen_US
dc.subject.emtreeColorectal tumoren_US
dc.subject.emtreeGenetic predispositionen_US
dc.subject.emtreeGeneticsen_US
dc.subject.emtreeMaleen_US
dc.subject.emtreeNucleotide sequenceen_US
dc.subject.emtreePedigreeen_US
dc.subject.emtreeTumor suppressor geneen_US
dc.subject.emtreeTurkey (republic)en_US
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