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 BRCA2 deletion in a patient with aggress...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2017
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5411692/
https://www.ncbi.nlm.nih.gov/pubmed/28487881
http://dx.doi.org/10.1101/mcs.a001362
Descripción
Sumario: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 BRCA2 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.

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