VHL
Associated conditions:
- Endocrine cancer
- Nervous system/brain cancer
- Pancreatic cancer
- Renal/urinary tract cancer
VHL makes a protein that clears away a signal telling cells to grow new blood vessels, keeping that growth switch off when oxygen is plentiful. Genetic changes in this gene are associated with an autosomal dominant condition called von Hippel-Lindau disease, with tumours and cysts in the eyes, brain, spine, kidneys and adrenal glands. Knowing your genetic status enables lifelong surveillance that is key to catching them early.
Conditions linked to VHL
Endocrine cancer
Endocrine cancers affect hormone-producing glands such as the thyroid, parathyroid, adrenal glands or pancreatic islet cells. Inherited variants can drive tumours in one or more of these glands, so awareness supports periodic hormone testing and imaging to catch changes early.
Nervous system/brain cancer
Cancers of the nervous system and brain arise in the brain, spinal cord or their supporting tissues. Some inherited syndromes raise the risk of these tumours, so awareness supports prompt assessment of new neurological symptoms and, where indicated, imaging surveillance.
Pancreatic cancer
Pancreatic cancer arises in the pancreas and is often found late. Some inherited variants raise its risk, so carriers may be offered specialist surveillance (MRI or endoscopic ultrasound), which aims to catch changes at a more treatable stage.
Renal/urinary tract cancer
Cancers of the kidney and urinary tract develop in the kidneys, ureters or bladder lining. Several inherited variants raise their risk, so carriers may be offered periodic kidney imaging and urine testing to catch tumours early.
