‘Research is an ongoing process, we are always improving our knowledge and making new discoveries’
Marc Tischkowitz is a University Reader and Honorary Consultant in the Department of Medical Genetics at Cambridge. He explains why people should take part in research and why PALB2 research is so important.
Marc, tell us about your role…
I coordinate the PALB2 Interest Group and have been involved in PALB2 research since the discovery of the PALB2 gene in 2006.
What do you do day-to-day?
I spend half my time doing clinical work and half my time doing research. My clinical work involves seeing families who are at risk of hereditary cancer, advising them about genetic testing and organising cancer surveillance for them if requires. My research focuses on hereditary causes of cancer and PALB2 is obviously one of my key focus areas.
Why were you interested in this area of research?
I trained in oncology and genetics and I have always been interested in why cancers occur and why some people are at higher risk of developing a cancer because of their genetic make up.
Why is PALB2 research so important?
PALB2 is probably the most important hereditary breast cancer gene after BRCA1 and BRCA2, but much less is known about it than BRCA1/BRCA2. We know that mutations in PALB2 predispose to breast and pancreas cancer, but the actual risk estimates are still uncertain, and this makes it hard to give good advice to individuals and families with PALB2 mutations.
How long will your research take to help people who have PALB2 mutation?
Research is an ongoing process; we are always improving our knowledge and making new discoveries. We aim to put this knowledge to good use and help families with PALB2 mutations, for example by providing more accurate risks for developing cancer in PALB2 mutation carriers.
How do volunteers help you with your research?
Volunteers can help us by providing us with information about their PALB2 mutation and the cancers that have occurred in their families. We anonymise this information and include it in our analyses. The more PALB2 carriers volunteer, the quicker we can do our research and advance our knowledge.
Can only people in Cambridge take part in your study?
No, we have study participants from throughout the world. Because PALB2 is rare we need to run our studies globally so we can get enough volunteers to help our work.
Why should people take part in research?
Our work will be directly relevant to individuals and families with PALB2 mutations so by helping us, ultimately they will help all those who have PALB2 mutations.
What do you like to do in your spare time?
We have just got a young dog from a rescue shelter – he is a collie-cross and needs a lot of walks!
If you have a confirmed PALB2 mutation or/and others in your family have been found to have a PALB2 mutation, please contact us. Thank you.