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DF/HCC member awarded grant amid tight funding environment

The NIH continues to recognize DF/HCC as a leader in cancer research by awarding funding to a number of our research initiatives. Recently, these awards included a new program project grant:

2P01CA120964-06A1: Molecular Pathogenesis of the Hamartoma Syndromes ($9m)
PI: David Kwiatkowski, MD, PhD (BWH)

The hamartoma syndromes include tuberous sclerosis (TSC), due to mutations in TSC1 orTSC2; Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome, due to mutations in PTEN; and Peutz-Jeghers syndrome, due to mutations in LKB1. Genetically, these genes function in classic tumor suppressor gene fashion, with germline inactivation of a single allele, followed by second hit loss of the remaining wild type allele in the tumors that develop. Although germline mutations cause these genetic syndromes, each of these genes is also involved in the development of typical adult malignancies: TSC1 - bladder carcinoma; TSC2 - PEComas pancreatic neuroendocrine tumors, and bladder cancer; PTEN - many adult cancers, including breast, lung, and bladder cancer; and LKB1 - lung cancer and endometrial cancer. In addition, a variety of cancer studies have shown that the mTOR signaling pathway is a consistent target in the majority of cancers. During the past four years of this award, we have focused on dissection of the wiring of this pathway, treatment implications, and translation of the findings to the care of patients with the hamartoma syndromes. In the next funding period, we continue to dissect this pathway, but have shifted our focus to translational and therapeutic strategies for the tumors and cancers in which these genes are involved.