Whole-genome sequencing identifies homozygous BRCA2 deletion guiding treatment in dedifferentiated prostate cancer

Whole-genome sequencing (WGS) has transformed the understanding of the genetic drivers of cancer and is increasingly being used in cancer medicine to identify personalized therapies. Here we describe a case in which the application of WGS identified a tumoral deletion in a patient with aggressive de...

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Bibliographic Details
Published in:Cold Spring Harbor molecular case studies 2017-05, Vol.3 (3), p.a001362
Main Authors: Purshouse, Karin, Schuh, Anna, Fairfax, Benjamin P, Knight, Sam, Antoniou, Pavlos, Dreau, Helene, Popitsch, Niko, Gatter, Kevin, Roberts, Ian, Browning, Lisa, Traill, Zoe, Kerr, David, Verrill, Clare, Tuthill, Mark, Taylor, Jenny C, Protheroe, Andrew
Format: Article
Language:English
Subjects:
Biopsy - methods
BRCA2 Protein - genetics
BRCA2 Protein - metabolism
Germ-Line Mutation
Homozygote
Humans
Male
Middle Aged
Mutation
Poly(ADP-ribose) Polymerase Inhibitors - therapeutic use
Poly(ADP-ribose) Polymerases - genetics
Poly(ADP-ribose) Polymerases - therapeutic use
Precision Medicine
Prostatic Neoplasms - genetics
Prostatic Neoplasms - therapy
Research Report
Sequence Deletion
Whole Genome Sequencing - methods
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Summary:Whole-genome sequencing (WGS) has transformed the understanding of the genetic drivers of cancer and is increasingly being used in cancer medicine to identify personalized therapies. Here we describe a case in which the application of WGS identified a tumoral deletion in a patient with aggressive dedifferentiated prostate cancer that was repeat-biopsied after disease progression. This would not have been detected by standard BRCA testing, and it led to additional treatment with a maintenance poly ADP ribose polymerase (PARP) inhibitor following platinum-based chemotherapy. This case demonstrates that repeat biopsy upon disease progression and application of WGS to tumor samples has meaningful clinical utility and the potential to transform outcomes in patients with cancer.
ISSN:2373-2873
2373-2865
2373-2873
DOI:10.1101/mcs.a001362