What is Carney Complex?
Carney Complex (CNC) causes tumors throughout the body. The majority of these are benign neoplasms. Mostly (but not exclusively) the endocrine system, the skin, the heart and schwann cells in the central nervous system are affected.
What causes Carney Complex?
It’s believed that people with Carney Complex are missing a tumour suppressor gene which causes tumours throughout the body and affects many organs1.
More than 70% of the 750 worldwide documented cases have a mutation on the gene called PRKAR1A which is located on chromosome 172.
The remaining 30% are people that exibit symptoms of CNC but when tested for the PRKAR1A gene came back negative. Researchers have since found other genes associated with CNC3;4. They suspect other there are other genetic variants that have not yet been identified.
For a simplified overview of Carney Complex please click here.
More Information
The National Institutes of Health (NIH) have published a factsheet on their website.
This website provides translations of said factsheet in these languages:
Research is needed!
Further investigation is needed!
While we know that symptoms of CNC can lead to tumours and that this is related to different mutations, researchers have yet to discover the actual triggers!
Back in 2018 Dr. Constantine Stratakis was so kind to record this video for Awareness Day explaining about Carney Complex: