Research Information System
Thesis Type: Expertise In Medicine
Institution Of The Thesis: Gazi Üniversitesi, Tıp Fakültesi, Turkey
Approval Date: 2014
Student: TAHA BAHSİ
Supervisor: FERDA EMRİYE PERÇİN
Abstract:In this thesis, we compared the "gold standard" conventional DNA sequencing with microarray re-sequencing and next generation sequencing methods in terms of accuracy for detecting BRCA1 and BRCA2 gene mutations in familial breast cancer. Totally ten patients suferring from breast cancer; seven with BRCA1 mutations and one with BRCA2 mutation (confirmed by using conventional DNA sequencing and MLPA technique) and two with no mutations were enrolled in this study. In the first step, both of them were resequenced by the usage of microarray technique and no mutation was found. Secondly via the next generation sequencing technique the confirmation of the previously known mutations of the four patients were performed. The present study confirmed that, the next generation sequencing is a reliable technique similar with conventional DNA sequencing for detecting the BRCA1/BRCA2 gene mutations regardless from the disadvantages of the homopolymer sequences which may cause false positive result. As a conclusion next generation sequencing can be use for screening these mutation by the help of the confirmation of conventional DNA sequencing.