Faculty Candidate Seminar
Department of Biochemistry and Molecular Genetics presents:
"Advances in the biology of high-risk renal and brain tumors"
Andrew Lee Hong, MD, FAAP
Assistant Professor in Pediatrics
Emory University
Atlanta, GA
Abstract:
Aggressive pediatric kidney and brain cancers are driven in part by alterations in the epigenome. One such alteration is in SMARCB1. SMARCB1 is a tumor suppressor gene that encodes a core subunit of the SWI/SNF chromatin remodeling complex. Loss of SMARCB1 leads to cancers such as malignant rhabdoid tumor, atypical teratoid rhabdoid tumor, and renal medullary carcinoma (RMC). Survival rates in these patients remain low although our understanding of the genomics and biology along with the identification of new targets have accelerated over the past decade. In the first part, we will discuss the advances in our understanding of how SMARCB1 is disrupted in RMCs. In the second part, we will discuss the current reliance upon nuclear loss of SMARCB1 by immunohistochemistry and the extent by which deep mutational scanning may provide clarity to variants of unknown significance.
Host: Dr. Ali Shilatifard, Chairman, Department of Biochemistry and Molecular Genetics
Linda Jackson
Email