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Prostate Cancer Prostatic Dis DOI:10.1038/pcan.2013.37

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

Publication TypeJournal Article
Year of Publication2014
AuthorsVan Allen, EM, Foye, A, Wagle, N, Kim, W, Carter, SL, McKenna, A, Simko, JP, Garraway, LA, Febbo, PG
JournalProstate Cancer Prostatic Dis
Date Published2014 Mar
KeywordsBiopsy, Bone Neoplasms, Exome, Germ-Line Mutation, High-Throughput Nucleotide Sequencing, Humans, Male, Middle Aged, Mutation, Prostatic Neoplasms, Prostatic Neoplasms, Castration-Resistant, Radiography

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.


Alternate JournalProstate Cancer Prostatic Dis.
PubMed ID24366412
PubMed Central IDPMC4364998
Grant ListT32 CA009172 / CA / NCI NIH HHS / United States
U01 CA157703 / CA / NCI NIH HHS / United States
5 U01 CA157703 / CA / NCI NIH HHS / United States