I have a PALB2 mutation. What are the implications for my family?
If you are found to have a PALB2 gene alteration as the cause of your cancer, then other members of your family may also have inherited the same gene alteration. For example, close relatives (parents, siblings and children) of someone with a PALB2 alteration each have a 50/50 or 1 in 2 chance of having the PALB2 alteration. The implications are less serious for males who carry a PALB2 mutation, but they can pass it on to their children (both sons and daughters), so your test result is also important for men in the family.
When is the best time to tell my family?
There is no ‘right’ time to tell your family about your test result. This will depend on the variety of factors and individual circumstances. It is important that you share this information with those family members who are affected by the breast cancer. If you have a PALB2 mutation, remember that women who are closely related to you may be able to have cancer screening, without undergoing genetic testing.
What is BRCA1 and BRCA2 gene?
These are genes that work together with PALB2 in the cell. They are much better studied than PALB2 and we know much more about them.
What is genetic counselling?
Genetic counselling aims to provide information about genetic conditions that run in the families and to answer questions about genetic testing. Through this process, relatives can find out about the nature and medical management of family disorders, how they are inherited and their own chance of developing and passing on conditions.
What happens at the genetic counselling appointment?
Appointments usually last between 30 to 45 minutes. You will be able to discuss your particular concerns and any relevant medical details regarding your family members. The counsellor will draw a family tree and help you to understand the probability of developing and passing on an inherited disorder. In addition, you will find out about available choices to you for minimising risk. The aim is to give you information, so you can make your own decisions, not to tell you what you should do or should not do.
What information do I usually need to provide for the genetic counselling appointment?
- the names and ages of members of your family e.g. brothers, sisters, parents, grandparents, children, grandchildren, uncles and aunts.
- specific information about your relatives who have had cancer e.g. the type of cancer, the name of the hospital where their cancer was treated and the name of the doctor who cared for them.
What are the advantages of taking part in our study on individuals and families with PALB2 Mutations?
Taking part may not have a direct benefit to you but it will help us better understand how PALB2 mutations cause cancer. By learning more about the gene we can provide more accurate and comprehensive information to those families with PALB2 mutations.
How can I help researchers study PALB2?
We are keen to study individuals and families with PALB2 mutations from all over the world so we can learn more about them and help future generations. If you would like to know more about how you can help please email us at firstname.lastname@example.org or use the online form to get in touch.
Image: The Rotherhithe Picture Research Library (cropped), Credit: Chris Guy