Mutational processes in the human genome

How a cancer genome provides a unique opportunity to view the historic mutagenic activity that has occurred throughout the development of a tumour

Dr Serena Nik-Zainal, Wellcome Trust Intermediate Clinical Fellow & CDF Group Leader, Cancer Genome Project, Sanger Institute

  • Mon 19th Jun 2017
  • 19:30
  • Wolfson Lecture Theatre, Churchill College, Storey’s Way, Cambridge CB3 0DS

“At conception, the human genome formed from the amalgamation of egg and sperm needs to be copied thousands of times to form the multi-cellular human being that is you. That human genome does not stay immutable. It is constantly changing, or mutating, due to the forces of nature that are constantly acting upon our cells.

“A cancer genome provides a unique opportunity to view the historic mutagenic activity that has occurred throughout the development of a tumour. For a long time driver mutations believed to be causative for cancer were the main focus of research, but passenger mutational signatures - imprints of the mutational processes of DNA damage and DNA repair operating during tumorigenesis - are also biologically informative. In this lecture, I provide a synopsis of the concept of mutational processes in human cells, describe the insights that we have gained through combinations of computational analysis and experiments in human cell-based systems, and showcase how we have developed the concept into applications that we hope to translate into clinical utility in the near future”.Download poster

Add to calendar

The lecture will be proceeded by a short presentation by Teng Zhao, CSAR Student Award winner, on nano-architecture for batteries

Dr. Serena Nik-Zainal is a CRUK Advanced Clinician Scientist exploring patterns of mutations or mutational signatures that arise in human cells to understand how DNA damage and DNA repair processes contribute towards aging and cancer. She is also an Honorary Consultant in Clinical Genetics. Serena hunts for mutation signatures in large cancer datasets using computational approaches. She explores these signatures through cell-based model systems and runs a clinical project, Insignia (www.mutationsignatures.org), recruiting patients with DNA repair/replication defects, aging syndromes, neurodegeneration, and people exposed to environmental/occupational mutagens, to understand mutational phenomena in these patients. She is now focused on advancing the analytical frameworks of mutational signatures further and also translating them into clinical applications.