Genetic Analysis of Melanoma in Cardiofaciocutaneous Syndrome

Cardiofaciocutaneous syndrome (CFC) is an inherited disorder. It can cause people to have more moles on their body. Having more moles increases your risk of developing melanoma, the deadliest form of skin cancer. We do not know if the risk is different in individuals with CFC syndrome, specifically. In this study, we aim to find patients with CFC who also have a history of melanoma. We will analyze the genetic makeup of these tumors and compare them to other melanomas and normal moles. We hypothesize that individuals with CFC will have a higher risk of melanoma compared to people without CFC. Research participants will be recruited through CFC support and research organizations. 

We will compare the DNA in the melanomas to DNA from a saliva sample and compare them. We will then create a cellular map of the melanoma, showing gene activity throughout the sample. We have already identified one patient with melanoma in situ, an early stage of disease. To our knowledge, this is the first case in an individual with CFC. Additionally, we have already completed the DNA comparison and cellular mapping in one mole from a person with CFC and two melanomas in people without CFC. In this study, we will investigate the genetic differences between melanomas in individuals with CFC, normal moles, and melanomas in people without CFC. This study will shed light on melanoma development and risk of disease in CFC patients.