Tuberous Sclerosis Complex and Cancer

Abstract

Tuberous sclerosis complex (TSC) is a neurocutaneous syndrome that can affect multiple organ systems such as the brain, heart, and lung, and neurological disorders such as autism spectrum disorder and mental retardation can be observed along with epileptic seizures in affected individuals. The disease can occur at any age. A genetic disease of TSC develops due to the mutations in TSC1 and TSC2 genes that cause dysfunction in Tuberin and/or Hamartin proteins. Although the disease has a highly variable penetrance, the cellular signal transduction mechanisms of TSC-related genes have largely been elucidated. The diagnostic criteria created by International TSC Consensus Group in 2012 are used in the diagnosis of the syndrome in addition to the genetic tests. At present, it is estimated that there are approximately 2 million people with TSC worldwide and 50,000 people are affected by the disease in the USA alone. It is important to know about the molecular genetics and clinical features of the disease for targeted therapies and well-managed surveillance. In the present study, we aimed to examine the genetic, biological, and clinical features of TSC and to discuss the genetic counseling approach that should be applied to patients with TSC.