| 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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