Whole Genome Sequencing Identifies Homozygous BRCA2 Deletion Guiding Treatment in De-Differentiated Prostate Cancer
Downloaded from molecularcasestudies.cshlp.org on September 28, 2021 - Published by Cold Spring Harbor Laboratory Press Whole Genome Sequencing identifies homozygous BRCA2 deletion guiding treatment in de-differentiated prostate cancer Karin Purshouse1~, Anna Schuh2~, Benjamin P Fairfax1, 5, Sam Knight3, Pavlos Antoniou2, Helene Dreau2, Niko Popitsch3, Kevin Gatter4, Ian Roberts5, Lisa Browning6, Zoe Traill7, David Kerr1, Clare Verrill6, Mark Tuthill1, Jenny C Taylor2,3*, Andrew Protheroe1* ~ joint first authors * Joint senior authors 1 - Oxford Cancer and Haematology Centre, Churchill Hospital, Headington, Oxford, OX3 7LE, UK. 2- Oxford National Institute for Health Research, Biomedical Research Centre/NHS Translational Diagnostics Centre, The Joint Research Office, Block 60, The Churchill Hospital, Old Road, Headington, Oxford, OX3 7LE, UK 3- Wellcome Trust Centre for Human Genetics, University of Oxford, Roosevelt Drive, Oxford, OX3 7BN, UK 4- Nuffield Division of Clinical Laboratory Sciences, Radcliffe Department of Medicine, University of Oxford, John Radcliffe Hospital, Oxford, OX3 9DU, UK. 5- Molecular Oncology and Haematology Unit, Weatherall Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, OX3 9DS, UK 6- Department of Cellular Pathology, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK. 7- Department of Radiology, John Radcliffe Hospital, Oxford University Hospitals NHS Foundation Trust, Oxford, OX3 9DU, UK. Downloaded from molecularcasestudies.cshlp.org on September 28, 2021 - Published by Cold Spring Harbor Laboratory Press Abstract Whole genome sequencing (WGS) has transformed the understanding of the genetic drivers of cancer and is increasingly being used in cancer medicine to identify personalised therapies. Here we describe a case where the application of WGS identified a tumoural BRCA2 deletion in a patient with aggressive dedifferentiated prostate cancer that was repeat biopsied after disease progression.
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