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Von Hippel-Lindau Syndrome

Von Hippel-Lindau Syndrome - What it is

Von Hippel-Lindau syndrome is a hereditary cancer syndrome.

What is von Hippel-Lindau syndrome (VHL)?

Von Hippel-Lindau syndrome (VHL) is a hereditary condition where cancerous and non-cancerous tumours and cysts can grow in certain parts of the body.

VHL is associated with a faulty (disease-causing) copy of the VHL gene.

Individuals who carry a faulty VHL gene face an increased risk of certain tumours and cancers over their lifetime, but it does not mean that they will definitely develop cancer/tumours.

What is hereditary cancer?

Hereditary cancer makes up about 5-10% of all cases of cancer. Some genes function to protect us from cancer. When they are not working well, it causes hereditary cancer. We refer to genes that are not working well as faulty genes.

Individuals who carry a faulty cancer gene(s) have a higher chance of developing certain cancers over their lifetime compared to the general population. The types of cancers that they may be at increased risk of will depend on the gene(s) involved.

If you have a faulty cancer gene, you may be at increased risk of developing certain cancers. As genes are shared among family, other family members may have inherited the faulty gene and may be at increased risk of cancer too.

What is genetic testing?

Genetic testing is offered to individuals where a hereditary cause of their personal and/or family history of cancer is suspected.

Genes contain the instructions that our body reads to carry out different functions. Genetic testing involves analysing your genes to understand if there are faults (i.e., mutations) that may increase the risk of diseases like cancer.

How is genetic testing done?

  • Genetic testing is typically a one-time blood test.
  • If a blood sample cannot be taken, other sample sources (e.g., skin or saliva) may be used.

What are the possible results of genetic testing?

There are 3 types of results you may receive:

Positive Uncertain - Variant of Uncertain Significance (VUS) Negative
Faulty gene(s) identifiedUncertain gene change(s) identified, unclear if these change(s) increase risk for tumours and cancersNo faulty gene(s) identified
Increased risk of developing certain tumours and cancers (depends on faulty gene(s) involved)May be clarified by testing other family membersTumour and cancer risk is similar to that of general population
Your family (parents, siblings, children and extended relatives) may have inherited the faulty gene(s) and should consider genetic testing to clarify thisMay be reclassified over time as ‘positive’ or ‘negative’ when more information is knownTest limitations will be explained in the context of your personal and family history of clinical features



Von Hippel-Lindau Syndrome - How to prevent?

Von Hippel-Lindau Syndrome - Preparing for surgery

Von Hippel-Lindau Syndrome - Post-surgery care

The information provided is not intended as medical advice. Terms of use. Information provided by SingHealth

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