The mutation spectrum of the APC gene in Turkish patients with familial adenomatous polyposis
dc.contributor.author | Zorluoğlu, Abdullah | |
dc.contributor.buuauthor | Tunca, Berrin Türkei | |
dc.contributor.buuauthor | Çeçener, Gülşah | |
dc.contributor.buuauthor | Egeli, Ünal | |
dc.contributor.buuauthor | Yılmazlar, Tuncay | |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Tıbbi Biyoloji Anabilim Dalı. | tr_TR |
dc.contributor.department | Uludağ Üniversitesi/Tıp Fakültesi/Genel Cerrahi Anabilim Dalı. | tr_TR |
dc.contributor.orcid | 0000-0001-7904-883X | tr_TR |
dc.contributor.orcid | 0000-0002-1619-6680 | tr_TR |
dc.contributor.orcid | 0000-0002-3820-424X | tr_TR |
dc.contributor.researcherid | AAH-1420-2021 | tr_TR |
dc.contributor.researcherid | ABI-6078-2020 | tr_TR |
dc.contributor.researcherid | AAP-9988-2020 | tr_TR |
dc.contributor.scopusid | 6602965754 | tr_TR |
dc.contributor.scopusid | 6508156530 | tr_TR |
dc.contributor.scopusid | 55665145000 | tr_TR |
dc.contributor.scopusid | 6701800362 | tr_TR |
dc.date.accessioned | 2024-03-19T06:03:18Z | |
dc.date.available | 2024-03-19T06:03:18Z | |
dc.date.issued | 2007-11 | |
dc.description.abstract | Purpose: Familial adenomatous polyposis, an autosomal-dominant disease characterized by the presence of 100 or more colorectal adenomatous polyps, results from mutations in the adenomatous polyposis coli tumor suppressor gene. This study was designed to investigate adenomatous polyposis coli gene mutations in members of Turkish families with familial adenomatous polyposis to constitute an adenomatous polyposis coli mutation spectrum for the Turkish population and to determine specific biomarkers for use in the early diagnosis of familial adenomatous polyposis. Methods: We investigated adenomatous polyposis coli gene mutations in six unrelated families with familial adenomatous polyposis by using heteroduplex analysis and DNA sequencing. Results: We identified three different mutations in six families. Of these one is known and two are novel: 1018T > C and 1309delGAAAA. The mutation of a T to C transversion at codon 1018 does not cause an alteration in the meaning of the codon; however, it was determined that this silent mutation does cause the formation of new exonic splicing enhancers (ESEs) motifs on a mutated sequence by using ESEfinder program. Conclusions: This study contributes to enlarging the adenomatous polyposis coli gene mutations spectrum and to defining new biomarkers for the early diagnosis of Turkish patients with familial adenomatous polyposis. | en_US |
dc.identifier.citation | Zorluoğlu, A. vd. (2007). "The mutation spectrum of the APC gene in Turkish patients with familial adenomatous polyposis". Diseases of the Colon and Rectum, 50(11), 1899-1904. | en_US |
dc.identifier.endpage | 1904 | tr_TR |
dc.identifier.issn | 0012-3706 | |
dc.identifier.issue | 11 | tr_TR |
dc.identifier.pubmed | 17882487 | tr_TR |
dc.identifier.scopus | 2-s2.0-35948953182 | tr_TR |
dc.identifier.startpage | 1899 | tr_TR |
dc.identifier.uri | https://doi.org/10.1007/s10350-007-9056-8 | en_US |
dc.identifier.uri | https://journals.lww.com/dcrjournal/Abstract/2007/50110/The_Mutation_Spectrum_of_theAPCGene_in_Turkish.20.aspx | en_US |
dc.identifier.uri | https://hdl.handle.net/11452/40468 | en_US |
dc.identifier.volume | 50 | tr_TR |
dc.identifier.wos | 000250785500020 | tr_TR |
dc.indexed.wos | SCIE | en_US |
dc.language.iso | en | en_US |
dc.publisher | Lippincott Williams & Wilkins | en_US |
dc.relation.journal | Diseases of the Colon and Rectum | en_US |
dc.relation.publicationcategory | Makale - Uluslararası Hakemli Dergi | tr_TR |
dc.rights | info:eu-repo/semantics/openAccess | en_US |
dc.subject | Adenomatous polyposis coli gene | en_US |
dc.subject | Turkish population | en_US |
dc.subject | Exonic splicing enhancers | en_US |
dc.subject | Heterodublex analysis | en_US |
dc.subject | Familial adenomatous polyposis | en_US |
dc.subject | Mutation | en_US |
dc.subject | Splicing enhancer motifs | en_US |
dc.subject | Missense | en_US |
dc.subject | Colorectal-cancer | en_US |
dc.subject | Proteins | en_US |
dc.subject | Germline mutations | en_US |
dc.subject | Chromosome-5q21 | en_US |
dc.subject | Identification | en_US |
dc.subject | Fap | en_US |
dc.subject | Coli | en_US |
dc.subject | Gastroenterology & hepatology | en_US |
dc.subject | Surgery | en_US |
dc.subject.emtree | Biological marker | en_US |
dc.subject.emtree | Nucleotide | en_US |
dc.subject.emtree | Adult | en_US |
dc.subject.emtree | Apc gene | en_US |
dc.subject.emtree | Article | en_US |
dc.subject.emtree | Clinical article | en_US |
dc.subject.emtree | Codon | en_US |
dc.subject.emtree | Colon polyposis | en_US |
dc.subject.emtree | Controlled study | en_US |
dc.subject.emtree | Dna sequence | en_US |
dc.subject.emtree | Dna splicing | en_US |
dc.subject.emtree | Early diagnosis | en_US |
dc.subject.emtree | Exon | en_US |
dc.subject.emtree | Familial disease | en_US |
dc.subject.emtree | Female | en_US |
dc.subject.emtree | Gene | en_US |
dc.subject.emtree | Gene mutation | en_US |
dc.subject.emtree | Heteroduplex analysis | en_US |
dc.subject.emtree | Human | en_US |
dc.subject.emtree | Male | en_US |
dc.subject.emtree | Nucleotide sequence | en_US |
dc.subject.emtree | Population research | en_US |
dc.subject.emtree | Protein analysis | en_US |
dc.subject.emtree | Protein motif | en_US |
dc.subject.emtree | Silent gene | en_US |
dc.subject.mesh | Adenomatous polyposis coli | en_US |
dc.subject.mesh | Aspirin | en_US |
dc.subject.mesh | Caffeine | en_US |
dc.subject.mesh | Diazepam | en_US |
dc.subject.mesh | Dihydroergotamine | en_US |
dc.subject.mesh | Drug combinations | en_US |
dc.subject.mesh | Gene deletion | en_US |
dc.subject.mesh | Genes, apc | en_US |
dc.subject.mesh | Heteroduplex analysis | en_US |
dc.subject.mesh | Humans | en_US |
dc.subject.mesh | Pedigree | en_US |
dc.subject.mesh | Sequence analysis, dna | en_US |
dc.subject.mesh | Tumor markers, biological | en_US |
dc.subject.mesh | Turkey | en_US |
dc.subject.scopus | Adenomatous Polyposis Coli; APC Gene; Polyposis | en_US |
dc.subject.wos | Gastroenterology & hepatology | en_US |
dc.subject.wos | Surgery | en_US |
dc.title | The mutation spectrum of the APC gene in Turkish patients with familial adenomatous polyposis | en_US |
dc.type | Article | en_US |
dc.wos.quartile | Q2 (Gastroenterology & hepatology) | en_US |
dc.wos.quartile | Q1 (Surgery) | en_US |