investigating the role of the sting Pathway in hereditary malignancies

Mutations in the gene encoding DDX41 have recently been described in families with hereditary leukemias and other blood cancers. Although how mutations in DDX41 predisposes patients to leukemia is not known, DDX41 has been recently described to play an important role in the Stimulator of Interferon Genes (STING) pathway. STING is recognized as a key pathway by which the immune system “senses” cancer and defects in this pathway have been demonstrated to result in diminished anti-cancer immune responses and enhanced tumor growth. This project investigates whether these mutations in DDX41 lead to defects in the STING pathway, thus blunting anti-tumor responses and predisposing patients to cancer. Better understanding the role of DDX41 in the STING pathway will provide important insights into hereditary cancers and may lead to novel therapeutic approaches.