Journal of Carcinogenesis & Mutagenesis

Caitlin F Connelly

Publications

• Research Article
  Genetic Alterations and Tumor Mutation Burden of Poorly Differentiated Small Cell Euro-endocrine Carcinomas are Similar in Lung Lesions and Distant Metastatic Foci
  Author(s): Omid S Tehrani, Philip J Stephens, Garrett M Frampton, Caitlin F Connelly, Ethan S Sokol, Jeffrey S Ross, Vincent A Miller and Jackie MoriartyOmid S Tehrani, Philip J Stephens, Garrett M Frampton, Caitlin F Connelly, Ethan S Sokol, Jeffrey S Ross, Vincent A Miller and Jackie Moriarty
  
  Objective: Studying the genetic alterations of poorly differentiated small cell neuroendocrine carcinomas to improve the understanding of the biology of these aggressive cancers. Methods: Next generation sequencing was performed on the DNA extracted samples, using the Illumina HiSeq2000/4000 on 315 cancer related genes and tumor mutation burden was reported. Results: In 914 small cell lung cancer (SCLC) and 115 small cell of undefined primary (SCUP), there were similar and close rates of genetic alterations in lung lesions and distant metastatic foci in SCLC and SCUP. Also, the majority of tumors, both lung lesions and distant metastatic foci, did not carry a high tumor mutation burden. Multiple potentially targetable driver genes were identified. Despite common involvement of transmembrane signaling pathways and transcr.. View More»
  DOI: 10.4172/2157-2518.1000328

  Abstract PDF