Trial Lecture - time and place
See Trial Lecture.
Adjudication committee
- 1st opponent: Professor Anne-Marie Gerdes, Rigshospitalet / University of Copenhagen
- 2nd opponent: Dr. Niklas Loman, Skåne University Hospital
- Committee Chair: Professor Jürgen Geisler, University of Oslo
Chair of the Defence
Adjunct Professor Therese Sørlie,
Principal Supervisor
Dr. Lovise Mæhle
Summary
The studies making up the thesis «Hereditary Breast Cancer in South-Eastern Norway. BRCA1/2- testing of breast cancer patients. Mutation spectrum and potential modifiers in Norwegian BRCA1/2 carriers» have been conducted within the field of clinical cancer genetics. The project was run by Cecilie Heramb (M.D.) at the Norwegian National Advisory Unit on Women`s Health and the Department of Medical Genetics, Oslo University Hospital (OUS), It was made possible by a PhD grant from Norwegian Women`s Public Health Association/The Norwegian Foundation for Health and Rehabilitation. The main supervisor was Lovise Olaug Mæhle, Section of Hereditary Cancer, OUS.
The research questions were, firstly, to evaluate how current criteria-based BRCA1/2 testing performs in detecting mutation carriers. Secondly, to describe the current BRCA1/2 mutation spectrum in South - Eastern Norway, especially looking at the frequency of Norwegian founder mutations and lastly, to validate in Norwegian BRCA1/2 carriers, findings from international GWAS studies regarding modification of breast cancer risk by SNPs.
The methods applied included descriptive statistics and relative risk calculation. The studies have been performed in different cohorts of breast cancer patients and mutation carriers, and through comparing extreme groups of BRCA1/2 mutation carriers. There were several interesting findings. Firstly, ten per cent of breast cancer patients identified as mutation carriers did not fulfill current testing criteria, while 37 % of carriers did fulfill criteria prior to contracting cancers themselves. Also, testing all breast cancer patients < 60 years identified 90 % of carriers. Secondly, the relative amount of founder mutation carriers was lower than previously described. Finally, the modifying effects of the SNPs were not sufficiently present in the Norwegian study group of BRCA1 mutation carriers to inform individual risk prediction.
Additional information
Contact the Research support staff.