title: Successful whole-exome sequencing from a prostate cancer bone metastasis biopsy.
abstract: BACKGROUND
  Comprehensive molecular characterization of cancer that has metastasized to bone has proved challenging, which may limit the diagnostic and potential therapeutic opportunities for patients with bone-only metastatic disease.
  
  
  METHODS
  We describe successful tissue acquisition, DNA extraction, and whole-exome sequencing from a bone metastasis of a patient with metastatic, castration-resistant prostate cancer (PCa).
  
  
  RESULTS
  The resulting high-quality tumor sequencing identified plausibly actionable somatic genomic alterations that dysregulate the phosphoinostide 3-kinase pathway, as well as a theoretically actionable germline variant in the BRCA2 gene.
  
  
  CONCLUSIONS
  We demonstrate the feasibility of diagnostic bone metastases profiling and analysis that will be required for the widespread application of prospective 'precision medicine' to men with advanced PCa.
authors.affiliation: 1] Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA [2] Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
authors.forename: E M
authors.initials: EM
authors.lastname: Van Allen
authors.affiliation: Department of Medicine, UCSF Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA.
authors.forename: A
authors.initials: A
authors.lastname: Foye
authors.affiliation: 1] Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA [2] Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
authors.forename: N
authors.initials: N
authors.lastname: Wagle
authors.affiliation: Department of Medicine, UCSF Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA.
authors.forename: W
authors.initials: W
authors.lastname: Kim
authors.affiliation: Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
authors.forename: S L
authors.initials: SL
authors.lastname: Carter
authors.affiliation: 1] Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA [2] Department of Genome Sciences, University of Washington, Seattle, WA, USA.
authors.forename: A
authors.initials: A
authors.lastname: McKenna
authors.affiliation: 1] Department of Urology, UCSF Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA [2] Department of Pathology, UCSF Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA [3] Department of Radiation Oncology, UCSF Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA.
authors.forename: J P
authors.initials: JP
authors.lastname: Simko
authors.affiliation: 1] Department of Medical Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA, USA [2] Cancer Program, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
authors.forename: L A
authors.initials: LA
authors.lastname: Garraway
authors.affiliation: 1] Department of Medicine, UCSF Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA [2] Department of Urology, UCSF Helen Diller Family Comprehensive Cancer Center, San Francisco, CA, USA.
authors.forename: P G
authors.initials: PG
authors.lastname: Febbo
mesh_terms: D001706:Biopsy; D001859:Bone Neoplasms / Q000000981:diagnostic imaging / Q000473:pathology / Q000556:secondary*; D059472:Exome; D018095:Germ-Line Mutation; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D011471:Prostatic Neoplasms / Q000235:genetics* / Q000473:pathology*; D064129:Prostatic Neoplasms, Castration-Resistant / Q000235:genetics / Q000473:pathology; D011859:Radiography