Mutational landscape of MCPyV-positive and MCPyV-negative Merkel cell carcinomas with implications for immunotherapy

@article{Goh2016MutationalLO,
  title={Mutational landscape of MCPyV-positive and MCPyV-negative Merkel cell carcinomas with implications for immunotherapy},
  author={G. Goh and Trent Walradt and V. Markarov and A. Blom and N. Riaz and Ryan F Doumani and K. Stafstrom and A. Moshiri and Lola Yelistratova and Jonathan L. Levinsohn and T. Chan and P. Nghiem and R. Lifton and Jaehyuk Choi},
  journal={Oncotarget},
  year={2016},
  volume={7},
  pages={3403 - 3415}
}
  • G. Goh, Trent Walradt, +11 authors Jaehyuk Choi
  • Published 2016
  • Medicine
  • Oncotarget
  • Merkel cell carcinoma (MCC) is a rare but highly aggressive cutaneous neuroendocrine carcinoma, associated with the Merkel cell polyomavirus (MCPyV) in 80% of cases. To define the genetic basis of MCCs, we performed exome sequencing of 49 MCCs. We show that MCPyV-negative MCCs have a high mutation burden (median of 1121 somatic single nucleotide variants (SSNVs) per-exome with frequent mutations in RB1 and TP53 and additional damaging mutations in genes in the chromatin modification (ASXL1… CONTINUE READING
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