Polimorfizam gena HER2/neu u tumorigenezi sporadičnog karcinoma debelog crijeva

master's thesis

• Title (english): Polymorphism in HER2/neu gene in sporadic colorectal carcinoma tumorigenesis
• Author: Sonja Valentić
• Mentor: Sanja Kapitanović (mentor)
• Mentor: Maja Matulić (mentor)
• Committee member: Maja Matulić (predsjednik povjerenstva)
• Committee member: Sanja Kapitanović (član povjerenstva)
• Committee member: Ana Galov (član povjerenstva)
• Granter: University of Zagreb; Faculty of Science; (Department of Biology); Zagreb
• Defense date and country: 2011-12-19, Croatia
• Scientific / art field, discipline and subdiscipline: NATURAL SCIENCES; Biology

Abstract

U Hrvatskoj je karcinom debelog crijeva na trećem mjestu po učestalosti, dok je na drugom mjestu kao uzrok smrti od raka. Većina karcinoma debelog crijeva posljedica je stupnjevitog procesa tijekom kojeg iz dobroćudnog adenoma kao posljedica naslijeđenih ili stečenih mutacija nastaje zloćudni tumor. Postojeći prognostički parametri još uvijek samo djelomično daju informacije o toku i ishodu ove bolesti, tako da postoji potreba za pronalaskom novih dijagnostičkih i prognostičkih molekularnih biljega. Jedan od tih biljega mogao bi biti i HER-2. Receptor HER-2 je tirozin kinaza, kodirana genom HER-2/neu, koja ima glavnu ulogu u aktivaciji signalnog puta važnog u proliferaciji stanica. Molekularnom analizom polimorfizama gena HER-2/neu ustanovljeno je da određeni polimorfizmi utječu na pojačanu autofosforilaciju i tirozin kinaznu aktivnost što može utjecati na povećanu sklonost obolijevanju ili lošiju prognozu bolesti. Cilj ovog diplomskog rada bio je istražiti povezanost polimorfizma c.1963A>G (rs1136201, I655V) u genu HER-2/neu sa sklonošću obolijevanju i preživljenjem oboljelih od sporadičnog karcinoma debelog crijeva. Rezultati istraživanja pokazali su da postoji povezanost između polimorfizma I655V i sklonosti obolijevanju.

Abstract (english)

In Croatia, colorectal cancer is the third most commonly diagnosed cancer and the second leading cause of cancer-related deaths. Colorectal cancer is a result of multistep process in which malignant colorectal carcinoma develops from benign adenoma, as a result of somatic or inherited mutations. Existing prognostic markers give only partial information about course and outcome of this disease, so there is a constant need for development and discovery of novel disease-related diagnostic and prognostic molecular markers. One of these new markers could be also HER-2. HER-2 is a cell membrane receptor tyrosine kinase, encoded by HER-2/neu gene, and is normally involved in the signal transduction pathways leading to cell growth and proliferation. Previous studies suggested that certain polymorphisms of the HER-2 gene (e.g. I655V) might result in increased autophosphorylation and tyrosine kinase activation. It is possible that these polymorphisms are associated with the increased susceptibility to colon cancer and poor prognosis. The aim of this study was to investigate the potential correlation of polymorphism c.1963A>G (rs1136201, I655V) in HER-2/neu gene with susceptibility to disease and survival of patients suffering from sporadic colorectal cancer. Results showed that I655V polymorphism is related to increased risk for sporadic colon cancer development.

• Keywords: HER-2; polimorfizmi gena; sporadični karcinom debelog crijeva
• Keywords (english): HER-2; gene polymorphism; sporadic colon cancer
• Language: croatian
• URN:NBN: urn:nbn:hr:217:055661
• 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: Access restricted to students and staff of home institution
• Created on: 2017-05-03 11:47:01