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Successful whole-exome sequencing from a prostate cancer bone metastasis biopsy.


ABSTRACT: 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.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).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.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.

SUBMITTER: Van Allen EM 

PROVIDER: S-EPMC4364998 | biostudies-literature | 2014 Mar

REPOSITORIES: biostudies-literature

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Successful whole-exome sequencing from a prostate cancer bone metastasis biopsy.

Van Allen E M EM   Foye A A   Wagle N N   Kim W W   Carter S L SL   McKenna A A   Simko J P JP   Garraway L A LA   Febbo P G PG  

Prostate cancer and prostatic diseases 20131224 1


<h4>Background</h4>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.<h4>Methods</h4>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).<h4>Results</h4>The resulting high-quality tumor sequencing  ...[more]

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