Here is an introduction to familial GIST. The Life Raft Group is cooperating with some of the top GIST specialty centers in the Project FLAG study. Led by Dana-Farber Cancer Institute and partnered by MD Anderson Cancer Center, Memorial Sloan-Kettering Cancer Center & Oregon Health & Science University, it hopes to identify potential familial GIST families and direct them to the assets provided by these institutions.
The vast majority of patients with GIST did not inherit mutations that cause GIST from their parents. Instead the initiating mutation, typically in the KIT gene but sometimes in the PDGFRA gene, developed in one or more cells sometime during their life. This mutation started a chain of events that eventually developed into GIST. Importantly, the KIT or PDGFRA mutations occur only in the tumor cells. The rest of the cells in the body have KIT and PDGFRA genes, but they are not mutated.