FBXW7.md
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# FBXW7
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## Overview
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-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. 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> The most commonly observed mutations in those cancers are the hot spots R465 and R479.<sup>1</sup>
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+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. 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> The most commonly observed mutations in those cancers are the hot spots R465 and R479.<sup>1</sup> 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.
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## Relevance tier by entity
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## References
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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.*
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+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.*