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Targeted Sequencing Using A 47 Gene Multiple Myeloma Mutation Panel ((Mp)-P-3) In-17p High Risk Disease

BRITISH JOURNAL OF HAEMATOLOGY(2015)

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Abstract
We constructed a multiple myeloma (MM)-specific gene panel for targeted sequencing and investigated 72 untreated high-risk (del17p) MM patients. Mutations were identified in 78% of the patients. While the majority of studied genes were mutated at similar frequency to published literature, the prevalence of TP53 mutation was increased (28%) and no mutations were found in FAM46C. This study provides a comprehensive insight into the mutational landscape of del17p high-risk MM. Additionally, our work demonstrates the practical use of a customized sequencing panel, as an easy, cheap and fast approach to characterize the mutational profile of MM.
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Key words
myeloma, cancer genetics, DNA mutation, DRUG resistance, genetic analysis
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