Mutacije u promotorskoj regiji gena TERT u diferenciranom karcinomu štitnjače

master's thesis

• Title (english): TERT promoter mutations in differentiated thyroid carcinoma
• Author: Mia Nižetić
• Mentor: Ivan Šamija (mentor)
• Mentor: Petra Korać (sumentor)
• Committee member: Petra Korać (predsjednik povjerenstva)
• Committee member: Ana Galov (član povjerenstva)
• Committee member: Sunčica Bosak (član povjerenstva)
• Committee member: Inga Marijanović (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2020-07-10, 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: hTERT; karcinom štitnjače; sekvenciranje
• Keywords (english): hTERT; thyroid carcinoma; sequencing
• Language: croatian
• URN:NBN: urn:nbn:hr:217:049353
• Study programme: Title: Molecular Biology; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra molekularne biologije (magistar/magistra molekularne biologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Open access; Embargo expiration date: 2022-01-10
• Created on: 2020-07-17 07:44:45