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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.

Original publication




Journal article


Cold Spring Harb Mol Case Stud

Publication Date





malignant genitourinary tract tumor, prostate cancer, BRCA2 Protein, Biopsy, Germ-Line Mutation, Homozygote, Humans, Male, Middle Aged, Mutation, Poly(ADP-ribose) Polymerase Inhibitors, Poly(ADP-ribose) Polymerases, Precision Medicine, Prostatic Neoplasms, Sequence Deletion, Whole Genome Sequencing