• Deutsch
    • English
  • English 
    • Deutsch
    • English
  • Login
Item View 
  •   Home
  • Medizin
  • Human- und Zahnmedizin
  • Item View
  •   Home
  • Medizin
  • Human- und Zahnmedizin
  • Item View
JavaScript is disabled for your browser. Some features of this site may not work without it.

Identifizierung von Patientinnen und Patienten mit der hereditären Form des Mamma- und Ovarialkarzinoms mittels Next-Generation-Sequencing-(NGS)-Technologie

Identification of patients with hereditary breast and ovarial cancer with next generation technology

by Mateja Smogavec
Doctoral thesis
Date of Examination:2019-06-26
Date of issue:2019-06-11
Advisor:Prof. Dr. Peter Burfeind
Referee:Prof. Dr. Philipp Ströbel
Referee:Prof. Dr. Margarete Schön
crossref-logoPersistent Address: http://dx.doi.org/10.53846/goediss-7487

 

 

Files in this item

Name:Dissertation_Mateja_Smogavec-Endversion.pdf
Size:4.39Mb
Format:PDF
ViewOpen

The following license files are associated with this item:


Abstract

English

Breast cancer is the most frequent malignant female cancer. Beside sporadic forms, 5 % - 10 % of these cancers show a hereditary origin with an identified germline mutation. The main purpose of this study was to analyse DNA-probes from 200 patients with a suspicion of having a hereditary form of breast and ovarian cancer and identify those with a causative mutation in one of 10 core genes (ATM, BRCA1, BRCA2, CHEK2, CDH1, NBN, PALB2, RAD51C, RAD51D and TP53) with a multiple gene panel and next generation sequencing (NGS) technology. The identified variants were compared with clinical and tumor characteristics of the analysed patients. A total of 108 variants of unknown significance and likely pathogenic and pathogenic mutations have been identified among 88 of analysed patients. The mutation detection rate was at 18 %. These data were compared to clinical data of the patients (for example: age at diagnosis, tumor type, receptor status of the breast cancer) and already published data. It could be for example shown, that the mutation detection rate was significantly higher among patients with triple-negative breast cancer as with patients with other receptor status. The detection rate of variants in the 10 core genes has been compared with the detection rate of retrospective patients, which only underwent a genetic analysis of BRCA1 and BRCA2 genes with Sanger sequencing. Furthermore, four patients among the analysed cohort and one additional patient had further genetic analyses to delineate the importance of identified variant. It could be shown that NGS has an important role in the detection of hereditary breast and ovarian cancer and should be used in the daily routine diagnostics.
Keywords: Next generation sequencing; Hereditary breast and ovarian cancer
 

Statistik

Publish here

Browse

All of eDissFaculties & ProgramsIssue DateAuthorAdvisor & RefereeAdvisorRefereeTitlesTypeThis FacultyIssue DateAuthorAdvisor & RefereeAdvisorRefereeTitlesType

Help & Info

Publishing on eDissPDF GuideTerms of ContractFAQ

Contact Us | Impressum | Cookie Consents | Data Protection Information | Accessibility
eDiss Office - SUB Göttingen (Central Library)
Platz der Göttinger Sieben 1
Mo - Fr 10:00 – 12:00 h


Tel.: +49 (0)551 39-27809 (general inquiries)
Tel.: +49 (0)551 39-28655 (open access/parallel publications)
ediss_AT_sub.uni-goettingen.de
[Please replace "_AT_" with the "@" sign when using our email adresses.]
Göttingen State and University Library | Göttingen University
Medicine Library (Doctoral candidates of medicine only)
Robert-Koch-Str. 40
Mon – Fri 8:00 – 24:00 h
Sat - Sun 8:00 – 22:00 h
Holidays 10:00 – 20:00 h
Tel.: +49 551 39-8395 (general inquiries)
Tel.: +49 (0)551 39-28655 (open access/parallel publications)
bbmed_AT_sub.uni-goettingen.de
[Please replace "_AT_" with the "@" sign when using our email adresses.]