Strukturne promjene, mikrosatelitna nestabilnost i gubitak heterozigotnosti, tumor supresorskih gena RB1, BRCA1 I MLH1 u karcinomu dojke

master's thesis

• Title (english): Structural changes, microsatellite instability and loss of heterozygosity at tumor suppressor GENE RB1, MLH1 and BRCA1 in breast cancer
• Author: Tea Tintor
• Mentor: Reno Hrašćan (mentor)
• Granter: University of Zagreb; Faculty of Food Technology and Biotechnology; (Department of Biochemical Engineering); (Laboratory for Biology and Microbial Genetics); Zagreb
• Defense date and country: 2012-09-26, Croatia
• Scientific / art field, discipline and subdiscipline: BIOTECHNICAL SCIENCES; Biotechnology

Abstract

U radu su ispitivane strukturne promjene, mikrosatelitna nestabilnost i gubitak heterozigotnosti, tumor supresorskih gena BRCA1, MLH1 i RB1 u osoba oboljelih od invazivnog duktalnog karcinoma dojke. Tumor supresorski geni bitna su karika u očuvanju genomske stabilnosti te inaktivacijom dolazi do gubitka njihove funkcije, a time potencijalno do progresije kancerogeneze. Tumor supresorski geni kodiraju za proteine koji uglavnom djeluju kao negativni regulatori staničnog rasta ili regulatori stanične smrti, a neki su odgovorni za popravak oštećenja u DNA i staničnu adheziju. BRCA1 i MLH1 su geni odgovorni za popravak krivo sparenih baza tijekom replikacije DNA, a RB1 gen djeluje u kontrolnoj točki prijelaza iz G1 u S fazu staničnog ciklusa. Mikrosatelitna nestabilnost primjećena je 18.2% uzoraka u genu BRCA1 te u 12.5% uzoraka u genu MLH1. Gubitak heterozigotnosti detektiran je u 14.3% analiziranih karcinoma u genu RB1.

Abstract (english)

In this study, structural changes, microsatellite instability and loss of heterozygosity, in the tumor suppressor genes BRCA1, MLH1 and RB1 in patients with invasive ductal carcinoma of the breast were observed. Tumor suppressor genes are a crucial link in maintaining genomic stability and inactivation leads to loss of their function, and thus, potentially, the progression of carcinogenesis. Tumor suppressor genes encode proteins that generally act as negative regulators of cell growth or cell death regulators, and some are responsible for the repair of DNA damage and cell adhesion. BRCA1 and MLH1 genes are responsible for mismatch repair during DNA replication, and the RB1 gene acts in a checkpoint transition from G1 to S phase of the cell cycle. Microsatellite instability was observed in 18.2% of samples BRCA1 gene and in 12.5% of samples in the MLH1 gene. Loss of heterozygosity was detected in 14.3% of the studied cancers in RB1 gene.

• Keywords: karcinom dojke; tumor supresorski geni; gubitak heterozigotnosti; mikrosatelitna nestabilnost
• Keywords (english): breast cancer; tumor suppressor genes; loss of heterozygosity; microsatellite instability
• Language: croatian
• URN:NBN: urn:nbn:hr:159:704014
• Study programme: Title: Molecular Biotechnology; Study programme type: university; Study level: graduate; Academic / professional title: magistar/magistra inženjer/inženjerka molekularne biotehnologije (magistar/magistra inženjer/inženjerka molekularne biotehnologije)
• Type of resource: Text
• File origin: Born digital
• Access conditions: Access restricted to students and staff of home institution
• Created on: 2017-05-09 09:34:49