TSC2
Associated conditions:
- Nervous system/brain cancer
- Pancreatic cancer
- Renal/urinary tract cancer
TSC2 makes tuberin, which teams with a partner protein to switch off the mTOR growth signal. Genetic changes in this gene are associated with an autosomal dominant condition called tuberous sclerosis, producing usually benign tumours in the brain, kidneys, heart, skin and lungs. Knowing your genetic status enables monitoring and access to mTOR-blocking medicines that can shrink these growths.
Conditions linked to TSC2
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.
