Overview

Genetic testing has been carried out in your family to see if there is an inherited tendency to develop certain tumours. This testing has shown that von Hippel-Lindau (VHL) syndrome is present in your family. This is called a familial VHL mutation.

VHL syndrome is an inherited condition that causes an increased risk of developing malignant (cancer) and benign (non-cancer) tumours and cysts.

These tumours can affect different parts of the body including:

• the back of the eye (retina)
• kidneys
• back of the brain (cerebellum)
• spinal cord
• adrenal gland
• inner ear (endolymphatic sac)
• pancreas

Most people with VHL syndrome will develop one of these tumours, and different members of the same family can be affected differently.

This information explains more about predictive testing for VHL syndrome to help you decide on whether you would like to be tested.

Genes

The condition is caused by inherited changes or faults (mutations) in a gene called VHL.

Genes are coded messages that give instructions for how cells in the body grow and function.

The function of the VHL gene is to protect us by controlling the growth of cells. A mutation in one copy of VHL causes an increased risk of developing VHL-related tumours and cysts.

Genes come in pairs and we inherit one copy from each parent.

Someone with a VHL gene mutation also has one normal copy. Only one copy of each gene pair is passed on to a child. If someone has a mutation in one copy of the gene, they have a 1 in 2 (50%) chance of passing on this mutation to each child they have, regardless of their gender or the child’s gender.

Deciding whether to be tested

Deciding to have genetic testing is a personal decision and can be a difficult and complex process.

Not everyone will choose to have genetic testing. If you decide against it you may still be eligible to have regular screening and we will discuss this with you.

You may wish to consider these points before deciding. There are no right or wrong answers to these questions, but it is worth thinking about what your answers might be, so that when you have your result you have an idea of how you may wish to proceed.

Timing

• Why now?
• Will it change your immediate treatment?
• What other challenging events are happening in your life?

Psychological impact of knowing

• How will you feel if a VHL mutation is identified?
• How will you share this information within the family?
• How this test result could affect you and your future?
• Who you plan to talk to about this test and result?
• How this test could impact on your family, children and relationships?

Assessing your own coping strategies

• How have you dealt with difficult situations in the past?
• What strategies do you use to help you deal with difficult news?
• Could this have an impact on your employment or insurance?
• How you will adjust to your result?

Next steps

• What might you do about your risks from VHL syndrome if we find that you have a gene mutation?
• Who you would like us to share your result with?

Research studies

Regardless of the result of your testing, there may be an opportunity for you to take part in research. Your genetics clinician or a research nurse will discuss this with you. For further information, contact a member of the research team on 020 7188 2603.