PRKAR1A
Associated conditions:
- Endocrine cancer
- Nervous system/brain cancer
- Sarcoma
PRKAR1A makes a control subunit of protein kinase A, an enzyme that must stay switched off until the right hormone signal arrives so that cell growth stays orderly. Genetic changes in this gene are associated with an autosomal dominant condition called Carney complex, featuring skin pigment changes and tumours of the heart, skin and hormone glands. Knowing your genetic status enables lifelong monitoring.
Conditions linked to PRKAR1A
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.
Sarcoma
Sarcomas are cancers of connective tissues such as bone, muscle, fat and cartilage. Certain inherited syndromes raise their risk, so awareness supports prompt assessment of unexplained lumps or bone pain and, in some syndromes, imaging surveillance.
