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Targeted sequencing using a 47 gene multiple myeloma mutation panel (M(3) P) in -17p high risk disease

Item Type:Article
Title:Targeted sequencing using a 47 gene multiple myeloma mutation panel (M(3) P) in -17p high risk disease
Creators Name:Kortüm, K.M., Langer, C., Monge, J., Bruins, L., Egan, J.B., Zhu, Y.X., Shi, C.X., Jedlowski, P., Schmidt, J., Ojha, J., Bullinger, L., Liebisch, P., Kull, M., Champion, M.D., Van Wier, S., Ahmann, G., Rasche, L., Knop, S., Fonseca, R., Einsele, H., Stewart, A.K. and Braggio, E.
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.
Keywords:Myeloma, Cancer Genetics, DNA Mutation, DRUG Resistance, Genetic Analysis
Source:British Journal of Haematology
ISSN:0007-1048
Publisher:Wiley-Blackwell
Volume:168
Number:4
Page Range:507-510
Date:February 2015
Official Publication:https://doi.org/10.1111/bjh.13171
PubMed:View item in PubMed

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