PTCH1
Associated conditions:
- Nervous system/brain cancer
- Skin cancer
- Benign tumours
PTCH1 makes a receptor that holds the Hedgehog growth pathway switched off until it is genuinely needed. Genetic changes in this gene are associated with an autosomal dominant condition called Gorlin syndrome, driving numerous basal cell skin cancers, jaw cysts, and sometimes the childhood brain tumour medulloblastoma. Knowing your genetic status enables sun protection and routine skin and dental surveillance.
Conditions linked to PTCH1
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.
Skin cancer
Skin cancers develop in the skin, often driven by UV exposure. Some inherited variants add to this risk, so carriers benefit from sun protection and regular skin checks that catch changes early, when treatment is simplest.
