Određivanje prisutnosti mutacije V600E gena BRAF u sporadičnim tumorima debelog crijeva metodom detekcije heterodupleksa DNA (HRM)

Bulat Lokas, Sandra

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master's thesis

Određivanje prisutnosti mutacije V600E gena BRAF u sporadičnim tumorima debelog crijeva metodom detekcije heterodupleksa DNA (HRM)

Zagreb: University of Zagreb, Faculty of Science, 2010. urn:nbn:hr:217:401445

Bulat Lokas, Sandra

University of Zagreb
Faculty of Science
Department of Biology

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APA 6th Edition

Bulat Lokas, S. (2010). Određivanje prisutnosti mutacije V600E gena BRAF u sporadičnim tumorima debelog crijeva metodom detekcije heterodupleksa DNA (HRM) (Master's thesis). Zagreb: University of Zagreb, Faculty of Science. Retrieved from https://urn.nsk.hr/urn:nbn:hr:217:401445

MLA 8th Edition

Bulat Lokas, Sandra. "Određivanje prisutnosti mutacije V600E gena BRAF u sporadičnim tumorima debelog crijeva metodom detekcije heterodupleksa DNA (HRM)." Master's thesis, University of Zagreb, Faculty of Science, 2010. https://urn.nsk.hr/urn:nbn:hr:217:401445

Chicago 17th Edition

Harvard

Bulat Lokas, S. (2010). 'Određivanje prisutnosti mutacije V600E gena BRAF u sporadičnim tumorima debelog crijeva metodom detekcije heterodupleksa DNA (HRM)', Master's thesis, University of Zagreb, Faculty of Science, accessed 22 September 2024, https://urn.nsk.hr/urn:nbn:hr:217:401445

Vancouver

Bulat Lokas S. Određivanje prisutnosti mutacije V600E gena BRAF u sporadičnim tumorima debelog crijeva metodom detekcije heterodupleksa DNA (HRM) [Master's thesis]. Zagreb: University of Zagreb, Faculty of Science; 2010 [cited 2024 September 22] Available at: https://urn.nsk.hr/urn:nbn:hr:217:401445

IEEE

S. Bulat Lokas, "Određivanje prisutnosti mutacije V600E gena BRAF u sporadičnim tumorima debelog crijeva metodom detekcije heterodupleksa DNA (HRM)", Master's thesis, University of Zagreb, Faculty of Science, Zagreb, 2010. Available at: https://urn.nsk.hr/urn:nbn:hr:217:401445

Cite this item: https://urn.nsk.hr/urn:nbn:hr:217:401445

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Title	Određivanje prisutnosti mutacije V600E gena BRAF u sporadičnim tumorima debelog crijeva metodom detekcije heterodupleksa DNA (HRM)
Title (english)	High resolution melting (HRM) analysis of BRAF V600E mutation in sporadic colon cancer
Author	Sandra Bulat Lokas
Mentor	Tamara Čačev (mentor)
Committee member	Maja Matulić (predsjednik povjerenstva)
Committee member	Tamara Čačev (član povjerenstva)
Committee member	Mirjana Kalafatić (član povjerenstva)
Committee member	Domagoj Đikić (član povjerenstva)
Granter	University of Zagreb Faculty of Science (Department of Biology) Zagreb
Defense date and country	2010-11-19, Croatia
Scientific / art field, discipline and subdiscipline	NATURAL SCIENCES Biology
Abstract	Karcinom debelog crijeva nastaje kao rezultat kontinuirane promjene epitelnih stanica debelog crijeva zbog nakupljanja mutacija u nizu onkogena i tumor supresorskih gena. Danas je poznato da je u približno 50 % tumora debelog crijeva prisutan poremećaj signalnog puta MAPK. Iako su mutacije gena koji sudjeluju u ovom signalnom putu poznate već dugi niz godina, važnost njihove detekcije ponovno se aktualizirala razvojem personalizirane medicine i modernih ciljanih antitumorskih lijekova. Konvencionalne metode detekcije mutacija podložne su generiranju lažno pozitivnih ili negativnih rezultata. Stoga se u novije vrijeme kao metoda izbora za detekciju mutacija koristi metoda fluorescentne detekcije heterodupleksa DNA (HRM). U ovom radu metoda HRM uvedena je za detekciju najčešće mutacije gena BRAF, mutacije V600E, u uzorcima sporadičnog karcinoma debelog crijeva. Od ukupno 120 analiziranih uzoraka sporadičnog karcinoma debelog crijeva, 6 uzoraka (5 %) je u analizi metodom HRM pokazalo aberantni profil krivulje mekšanja. Metodom sekvencioniranja je u svih 6 analiziranih uzoraka dokazana prisutnost mutacije V600E. Metoda HRM se pokazala kao jednostavnija i brža alternativa konvencionalnim metodama analize mutacija te se može koristiti i za molekularno profiliranje drugih tipova tumora u kojima mutacija gena BRAF igra značajnu ulogu.
Abstract (english)	Colorectal cancer arises as a consequence of continuous mutation accumulation in a number of oncogenes and tumor suppressor genes. Approximately 50 % of colorectal tumors have an aberrant MAPK signalling. Although mutations of genes involved in MAPK signalling pathway are known for some time, their importance has recently been brought to scientific attention as a consequence of break-troughs in personalized medicine and modern antitumor therapy. Conventional methods of mutation detection are prone to generating false positive or negative results, therefore, in recent years a method of choice for mutation screening is the high resolution melting fluorescent detection of heteroduplexes (HRM). In this study HRM method was introduced in order to detect the most common BRAF gene mutation, V600E in sporadic colon cancer tumors. A total of 120 tumor samples were analyzed and in 6 (5 %) BRAF V600E mutation was detected and confirmed by DNA sequencing. Finally, HRM method has proved itself to be the simplest and faster alternative to conventional methods of mutation detection and can be used for molecular profiling of other tumors where BRAF mutations have an important role.
Keywords
Keywords (english)
Language	croatian
URN:NBN	urn:nbn:hr:217:401445
Study programme	Title: Experimental Biology Study programme type: university Study level: graduate Academic / professional title: magistar/magistra eksperimentalne biologije (magistar/magistra eksperimentalne biologije)
Type of resource	Text
File origin	Born digital
Access conditions	Access restricted to students and staff of home institution
Terms of use
Repository	Repository of the Faculty of Science
Created on	2017-05-03 12:13:21