e397925435477acb2e2ba453138aa85d71ef0ec2
FBXW7.md
| ... | ... | @@ -7,9 +7,9 @@ link-citations: true |
| 7 | 7 | |
| 8 | 8 | ## Overview |
| 9 | 9 | FBXW7 mutations are found in a range of lymphoid malignancies, including B-cell lymphomas. These mutations often include missense mutations, deletions, frameshift mutations and splice-site mutations. |
| 10 | -Overall, these mutations are relatively rare in DLBCL and occur more frequently in other solid tumors as well as T-cell acute lymphocytic leukemia.<sup>1</sup> |
|
| 11 | -The most commonly observed mutations in those cancers are the hot spots R465 and R479.<sup>1</sup> |
|
| 12 | -In leukemias, FBXW7 mutations enhance the activity of leukemia-initiating cells by stabilizing oncogenic MYC.<sup>2</sup> Whether they have this role in DLBCL remains to be determined. |
|
| 10 | +Overall, these mutations are relatively rare in DLBCL and occur more frequently in other solid tumors as well as T-cell acute lymphocytic leukemia.<sup>[@akhoondiFBXW7HCDC4General2007]</sup> |
|
| 11 | +The most commonly observed mutations in those cancers are the hot spots R465 and R479.<sup>[@akhoondiFBXW7HCDC4General2007]</sup> |
|
| 12 | +In leukemias, FBXW7 mutations enhance the activity of leukemia-initiating cells by stabilizing oncogenic MYC.<sup>[@kingUbiquitinLigaseFBXW72013]</sup> Whether they have this role in DLBCL remains to be determined. |
|
| 13 | 13 | |
| 14 | 14 | |
| 15 | 15 | ## Relevance tier by entity |
| ... | ... | @@ -36,7 +36,6 @@ In leukemias, FBXW7 mutations enhance the activity of leukemia-initiating cells |
| 36 | 36 | [[include:mermaid_FBXW7.md]] |
| 37 | 37 | |
| 38 | 38 | ## References |
| 39 | -1. *Akhoondi, S., Sun, D., Lehr, N., Apostolidou, S., Klotz, K., Maljukova, A., Cepeda, D., Fiegl, H., Dafou, D., Marth, C., Mueller-Holzner, E., Corcoran, M., Dagnell, M., Nejad, S., Nayer, B., Zali, M., Hansson, J., Egyhazi, S., Petersson, F., Sangfelt, P., Nordgren, H., Grandér, D., Reed, S., Widschwendter, M., Sangfelt, O., & Spruck, C. (2007). FBXW7/hCDC4 is a general tumor suppressor in human cancer.. Cancer research, 67 19, 9006-12 . https://doi.org/10.1158/0008-5472.CAN-07-1320.* |
|
| 40 | -2. *King, B., Trimarchi, T., Reavie, L., Xu, L., Mullenders, J., Ntziachristos, P., Aranda-Orgilles, B., Pérez-García, A., Shi, J., Vakoc, C., Sandy, P., Shen, S., Ferrando, A., & Aifantis, I. (2013). The Ubiquitin Ligase FBXW7 Modulates Leukemia-Initiating Cell Activity by Regulating MYC Stability. Cell, 153, 1552-1566. https://doi.org/10.1016/j.cell.2013.05.041.* |
|
| 39 | + |
|
| 41 | 40 | <!-- ORIGIN: zhangGeneticHeterogeneityDiffuse2013 --> |
| 42 | 41 | <!-- DLBCL: zhangGeneticHeterogeneityDiffuse2013 --> |