Prevent Breast Cancer Researcher Elke van Veen has won the prestigious Postgraduate Student of the Year award at this year’s Manchester Doctoral Excellence Awards. We asked Elke to tell us a little bit more about her work…
I am a researcher at the University of Manchester and work at St Mary’s Hospital at the Manchester Centre for Genomic Medicine where I also did my PhD research. I worked on a project funded by Prevent Breast Cancer focussing on better risk prediction of breast cancer. Within this project we tried to find out how we could use normal genetic variation in our DNA to better predict breast cancer risk in women. We combined this genetic information with data on breast density (the second highest risk factor for getting breast cancer, after age!) and other well-known risk factors of breast cancer collected through the PROCAS study. We found that this combined information gave a better prediction of breast cancer risk than when we used risk factors alone.
Elke’s new gene research project
My project also looked at families where many family members are affected by breast and/or ovarian cancer. In many of these families, there is a known disease-causing issue found in one of the well-known breast cancer genes such as BRCA1 or BRCA2. I am interested in finding out what the genetic cause is in the families where no issues have been found through gene testing. By looking outside the BRCA1 gene, we found a completely new mechanism that caused BRCA1 to stop working (called epigenetic silencing) in two families who tested negative in gene testing.
I will continue this work through our brand new project funded by Prevent Breast Cancer. We want to find out if this new mechanism which stops BRCA1 from working also can do the same to other breast cancer genes such as BRCA2 and PALB2. We also will be looking for other complicated changes in these genes called “structural variants”, which is when the gene order is mixed up and prevented from working properly. It has not been possible to detect either of these changes using traditional gene testing and as a result families with inherited breast cancer are left unable to fully understand their risk or benefit from the best treatment options.
How this project will directly help women
By looking into this, we want to find a genetic cause for families that until now had no genetic explanation for their disease. Finding a cause will allow families to better understand their risk. Women at high risk will benefit from regular check ups and screening. Women with low risk can be removed from intensive screening programmes. Identifying a change in one of the high risk genes will also allow effective treatment of these women who have breast cancer with PARP inhibitor drugs.
I am excited to carry on working to try to find the cause of breast cancer for those families that have no genetic diagnosis yet. During my PhD research, I gained a full realisation of the clinical importance and the impact that the research can have on the families. It is this knowledge and awareness that my work can make a difference that motivates me to continue this work.
Click here and pick Gene Research from the drop-down menu to donate directly to this pillar of research in order to help fund Elke van Veen’s vital work.