Associate Professor of Pathology
Director, Penn Oral Pathology Services
The roles of ribosome biogenesis and telomere maintenance in the pathogenesis of oral cancer are poorly understood. The dyskeratosis congenita 1 gene (DKC1) has important roles in both of these molecular pathways. While germline mutations in DKC1 may precipitate cancer development, in the vast majority of individuals with sporadic cancers, the gene is not mutated. Instead, DKC1 is frequently upregulated. We have recently shown that DKC1 is a direct transcriptional target of the c-MYC oncoprotein. c-MYC is one of the most important cellular proteins; it directly and indirectly regulates many of our most fundamental biological functions. Upregulation of c-MYC has been implicated in the pathogenesis of several different cancer types, including oral cancer. We are currently investigating the role of DKC1 in influencing some of these c-MYC-related functions, including cellular proliferation, genomic stability and cellular transformation.