|Publication Type||Journal Article|
|Year of Publication||2014|
|Authors||Van Allen, EM, Foye, A, Wagle, N, Kim, W, Carter, SL, McKenna, A, Simko, JP, Garraway, LA, Febbo, PG|
|Journal||Prostate Cancer Prostatic Dis|
|Date Published||2014 Mar|
|Keywords||Biopsy, 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 Journal||Prostate Cancer Prostatic Dis.|
|PubMed Central ID||PMC4364998|
|Grant List||T32 CA009172 / CA / NCI NIH HHS / United States |
U01 CA157703 / CA / NCI NIH HHS / United States
5 U01 CA157703 / CA / NCI NIH HHS / United States