Marjanka Schmidt's research group is already working with colleagues in Leiden and is trying to find out which hereditary genetic variants predict the risk of, and the course of, breast cancer. Schmidt: "Everybody has heard of BRCA1 and BRCA2, but we now know that there are many more genes that are associated with breast cancer and possibly with the recurrence of the disease and therapy success."
Gene panel
According to her, it is time to do more with that knowledge. "I want to understand how various genetic variants have an effect together. This information is important for the course of the disease and offers possibilities for prevention in healthy women with an increased risk of breast cancer. If someone comes in who already has breast cancer, or has a family member with breast cancer, we must inspect a lot more risk genes and test more on an individual level than we currently do. My first goal is to use such a multi-gene panel test in practice and to further investigate it."
Expectation
The next step is to use the results of such a test to say something about the course of the disease. "This part of my work is still in its infancy, but ultimately we want to answer questions such as: which breast cancer subtype does someone develop and what can a patient expect from the course of the disease? Which treatment fits best? And how great is the risk of a second breast cancer or recurrence of the disease after treatment?"