Dr. Nickolas Papadopoulos is internationally known as a co-discoverer of the genetic basis of the predisposition to hereditary nonpolyposis colon cancer (HNPCC), one of the most common hereditary forms of cancer. His discovery that mutations in the mismatch repair genes (MSH2, MLH1, MSH6, and PMS2) predispose to HNPCC had important ramifications for the understanding and molecular classification of cancers that have a very high rate of certain type of mutations. These discoveries lead to the development of diagnostic tests for the presymptomatic diagnosis of individuals with HNPCC, invaluable information for the management of the families with HNPCC.

He is well renowned for his development of diagnostic tests and he is considered an expert in cancer diagnostics. He not only developed diagnostics at the bench, but as a Chief Scientific Officer of a startup diagnostics company he lead a team in the development and commercialization of a novel diagnostic method applicable to any gene tic disease.

His current focus is on cancer genomics. He was part of the interdisciplinary team that was first to sequence all of the protein coding genes and determine genetic alterations and construct expression profiles in multiple tumors of four different common human cancers. Most recent efforts have involved the identification of genetic alterations that drive tumorigenesis using a new generation of sequencing technologies. A noteworthy discovery he has made in the recent year include the identification of novel, signature mutations in ovarian clear cell carcinomas and pancreatic neuroendocrine tumors. These mutations are in genes that control epigenetic changes in the cell, thus, developing the paradigm that epigenetic changes in cancer cells are controlled by genetic changes. This work has provided new insights into the pathogenesis of these tumor types as well as new diagnostic strategies. Currently, he is focused on translating the genetic information derived from c ancer genome analyses to clinical applications in early detection, diagnosis and monitoring of cancer.

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