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

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 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.

SUBMITTER: Purshouse K 

PROVIDER: S-EPMC5411692 | biostudies-literature | 2017 May

REPOSITORIES: biostudies-literature

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Whole-genome sequencing identifies homozygous <i>BRCA2</i> deletion guiding treatment in dedifferentiated prostate cancer.

Purshouse Karin K   Schuh Anna A   Fairfax Benjamin P BP   Knight Sam S   Antoniou Pavlos P   Dreau Helene H   Popitsch Niko N   Gatter Kevin K   Roberts Ian I   Browning Lisa L   Traill Zoe Z   Kerr David D   Verrill Clare C   Tuthill Mark M   Taylor Jenny C JC   Protheroe Andrew A  

Cold Spring Harbor molecular case studies 20170501 3

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 <i>BRCA2</i> 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 ma  ...[more]

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