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master's thesis
Mutacije u promotorskoj regiji gena TERT u diferenciranom karcinomu štitnjače
Zagreb: University of Zagreb, Faculty of Science, 2020. urn:nbn:hr:217:049353
Nižetić, Mia
University of Zagreb
Faculty of Science
Department of Biology

Institutional repository: Repository of the Faculty of Science

Cite this document

Nižetić, M. (2020). Mutacije u promotorskoj regiji gena TERT u diferenciranom karcinomu štitnjače (Master's thesis). Zagreb: University of Zagreb, Faculty of Science. Retrieved from https://urn.nsk.hr/urn:nbn:hr:217:049353

Nižetić, Mia. "Mutacije u promotorskoj regiji gena TERT u diferenciranom karcinomu štitnjače." Master's thesis, University of Zagreb, Faculty of Science, 2020. https://urn.nsk.hr/urn:nbn:hr:217:049353

Nižetić, Mia. "Mutacije u promotorskoj regiji gena TERT u diferenciranom karcinomu štitnjače." Master's thesis, University of Zagreb, Faculty of Science, 2020. https://urn.nsk.hr/urn:nbn:hr:217:049353

Nižetić, M. (2020). 'Mutacije u promotorskoj regiji gena TERT u diferenciranom karcinomu štitnjače', Master's thesis, University of Zagreb, Faculty of Science, accessed 30 December 2024, https://urn.nsk.hr/urn:nbn:hr:217:049353

Nižetić M. Mutacije u promotorskoj regiji gena TERT u diferenciranom karcinomu štitnjače [Master's thesis]. Zagreb: University of Zagreb, Faculty of Science; 2020 [cited 2024 December 30] Available at: https://urn.nsk.hr/urn:nbn:hr:217:049353

M. Nižetić, "Mutacije u promotorskoj regiji gena TERT u diferenciranom karcinomu štitnjače", Master's thesis, University of Zagreb, Faculty of Science, Zagreb, 2020. Available at: https://urn.nsk.hr/urn:nbn:hr:217:049353

Metadata
TitleMutacije u promotorskoj regiji gena TERT u diferenciranom karcinomu štitnjače
Title (english)TERT promoter mutations in differentiated thyroid carcinoma
AuthorMia Nižetić
MentorIvan Šamija (mentor)
MentorPetra Korać (sumentor)
Committee memberPetra Korać (predsjednik povjerenstva)
Committee memberAna Galov (član povjerenstva)
Committee memberSunčica Bosak (član povjerenstva)
Committee memberInga Marijanović (član povjerenstva)
GranterUniversity of Zagreb
Faculty of Science
(Department of Biology)
Zagreb
Defense date and country2020-07-10, Croatia
Scientific / art field,
discipline and subdiscipline		NATURAL SCIENCES
Biology
Abstract
U diferenciranom karcinomu štitnjače učestale su mutacije u promotoru gena hTERT. Mutacije utječu na razvoj i progresiju karcinoma. Dvije najučestalije mutacije u promotoru su c.124C>T (C228T) i c.146C>T (C250T). Mutacije c.124C>T (C228T) i c.146C>T (C250T) dovode do stvaranja novog mjesta vezanja za transkripcijske faktore ETS što dovodi do pojačane ekspresije gena hTERT. Cilj ovog istraživanja bio je utvrditi učestalost mutacija c.124C>T i c.146C>T u hrvatskoj populaciji bolesnika s diferenciranim karcinomom štitnjače i odrediti postoji li povezanost prisutnosti mutacija c.124C>T i c.146C>T s demografskim (dob, spol) i kliničkim (proširenost bolesti) karakteristikama bolesnika. Sangerovom metodom sekvenciranja određena je prisutnost mutacija u promotorskoj regiji gena hTERT u 72 uzorka. Učestalost hTERT mutacija u uzorku od 72 ispitanika je bila 9,7%. Prisutnost mutacije bila je češća kod muškaraca starije životne dobi te je uočena povezanost prisutnosti mutacije s metastatskom proširenosti bolesti. Udio bolesnika s udaljenim metastazama bio je veći među bolesnicima s mutacijom (43%) nego među bolesnicima bez mutacije (18%).
Abstract (english)
TERT promoter mutations are common in differentiated thyroid carcinoma. Mutations affect the development and progression of carcinoma. The two most common mutations in hTERT promoter are c.124C>T (C228T) i c.146C>T (C250T). These mutations create new binding site for ETS transcription factors leading to enhanced hTERT expression. The aim of this study was to determine the frequency of c.124C>T and c.146C>T mutations in the Croatian population of patients with differentiated thyroid carcinoma and to determine if there is association between the presence of mutations with demographic (age, gender) and clinical (disease prevalence) characteristics of the patients. The presence of mutations in the promoter region of hTERT gene was determined by sequencing of 72 samples with Sanger method. The frequency of hTERT mutations in 72 samples was 9,7%. The presence of the mutations was more common in older men and it was observed that the presence of the mutation was associated with metastatic prevalence. The proportion of patients with distant metastases was higher among patients with mutation (43%) than among patients without mutation (18%).
Keywords
Keywords (english)
Languagecroatian
URN:NBNurn:nbn:hr:217:049353
Study programmeTitle: Molecular Biology
Study programme type: university
Study level: graduate
Academic / professional title: magistar/magistra molekularne biologije (magistar/magistra molekularne biologije)
Type of resourceText
File originBorn digital
Access conditionsOpen access
Embargo expiration date: 2022-01-10
Terms of useLicence In copyright icon
Created on2020-07-17 07:44:45