Finding hidden genetic causes of gastrointestinal cancer

Tuesday 25 June 2024, 2:30 pm
PhD candidate
B.A.W. te Paske MSc.
Promotor(s)
prof. dr. N. Hoogerbrugge-van der Linden, prof. dr. M.J.L. Ligtenberg
Co-promotor(s)
dr. R.M. de Voer
Location
Aula

Having a genetic tumor risk syndrome means that a DNA change causes an increased risk for the development of cancer. In some cases, no disease-causing DNA change can be found during regular diagnostics. Within this PhD project, executed in strong collaboration with the European network for genetic tumor risk syndromes (https://www.genturis.eu/), the DNA was examined in a more extensive manner. For 19% of the examined patients whom likely had a genetic predisposition for cervical and/or colorectal cancer, a causal DNA change could be found. This DNA change was 'hidden' in the DNA and could not be detected with current diagnostic tests. In addition, existing DNA data from patients who may have a genetic predisposition for developing stomach or colorectal cancer has been analyzed in new ways within a European collaboration. With this study, about 2% of these patients could be genetically diagnosed. For patients that remained without a genetic diagnosis, the DNA of the tumor was further examined. By analyzing the molecular patterns of their tumors, we hopefully will be able to provide more information about the presence/absence of disease-causing DNA change in the future.

Iris te Paske (1995) obtained her Master's degree in Biomedical Sciences, cum laude, at the Radboud University in Nijmegen. She started her PhD research in 2018 at the Human Genetics department of Radboud university medical center, under the supervision of Prof. Dr. Nicoline Hoogerbrugge, Prof. Dr. Marjolijn Ligtenberg and Dr. Richarda de Voer. Currently, she is working as a postdoctoral researcher at the Medical Oncology department of the Radboud university medical center.