Characterizing the non-coding cancer genome

Date: This event took place on April 30, 2021

While much attention has been paid to cancer driver mutations in protein coding genes, these represent less than 2% of the human genome. Characterizing alterations in non-coding and regulatory elements, such as non-coding RNAs, enhancers, or epigenetic modifications, and their impact on gene dysregulation is thus essential to a full understanding of the mechanisms underlying tumorigenesis.

Increasingly comprehensive catalogues of whole cancer genomes and advances in sequencing technologies have improved the detection of mutations in non-coding regions. A current focus for the field is in determining the effects of these alterations, through the use of functional genomics approaches and the integration of DNA sequencing with other techniques such as RNA sequencing and ATAC-seq to evaluate transcriptomic and epigenomic features. Beyond insights into cancer biology, such studies may reveal new vulnerabilities that can be targeted therapeutically, or clinically relevant diagnostic or prognostic biomarkers.

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  • Mathieu Lupien, Princess Margaret Cancer Centre

    Mathieu Lupien, Princess Margaret Cancer Centre

    Dr. Mathieu Lupien is a Senior Scientist at the Princess Margaret Cancer Centre (PM), an Associate Professor at the University of Toronto (Canada) and holds a cross-appointment with the Ontario Institute for Cancer Research (OICR). Dr. Lupien’s research in chromatin & epigenetics has pioneered the study of the noncoding genome and accelerated the development of chromatin & epigenetic-based precision medicine against cancer.

    Dr. Lupien earned his Ph.D. in experimental medicine at McGill University and carried out postdoctoral training in medical oncology as an Era of Hope Fellow at the Dana-Farber Cancer Institute with Myles Brown. He joined the Princess Margaret Cancer Centre and the University of Toronto in 2012.

    Among other honours, Dr. Lupien is a recipient of the Investigator Award from the OICR, the Canadian Cancer Society Bernard and Francine Dorval Award for Excellence and is a two times recipient of the Till and McCulloch Discovery of the Year award.

  • Bradley Bernstein, Mass General Hospital and Broad Institute

    Bradley Bernstein, Mass General Hospital and Broad Institute

    Bradley Bernstein, MD, PhD is the Director of the Gene Regulation Observatory at the Broad Institute, and a Professor of Pathology at Mass General Hospital and Harvard Medical School. Bernstein’s research focuses on epigenetic gene regulation. His lab studies how gene activity is controlled by noncoding regulatory elements such as ‘enhancers’, and by the way the genes are packaged into chromatin. He is a leader of the NIH’s ENCODE project that is mapping the locations and functions of all noncoding elements in the human genome. His work is notable for the identification of chromatin structures that underlie stem cell pluripotency, the annotation of enhancers associated with autoimmunity and other diseases, and the characterization of epigenetic aberrations that turn on oncogenes and drive tumors.

    Bernstein holds the Bernard and Mildred Kayden Endowed MGH Research Institute Chair and is an Investigator in Harvard’s Ludwig Institute. He received his B.S. from Yale University and his M.D. and Ph.D. from the University of Washington, before completing a residency in clinical pathology and postdoctoral research at Harvard University. Honors include an Early Career Scientist Award from the Howard Hughes Medical Institute, an Elizabeth and Michael Ruane Endowed Scholar Award in Endocrine Pathology, a Career Award in the Biomedical Sciences from the Burroughs Wellcome Fund, the NIH Director’s Pioneer Award, an American Cancer Society Professorship and the Paul Marks Prize for Cancer Research.

  • Julia Simundza, Nature Cancer

    Moderator: Julia Simundza, Nature Cancer

    Julia joined Nature Cancer upon its launch in April 2019. She completed her PhD at the New York University Sackler Institute of Biomedical Sciences in 2015, where she studied lineage markers in mammary gland development and breast cancer. Julia is based in the New York office and handles manuscripts in many areas of cancer with a focus on cancer genomics.