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.¹ The most commonly observed mutations in those cancers are the hot spots R465 and R479.¹ In leukemias, FBXW7 mutations enhance the activity of leukemia-initiating cells by stabilizing oncogenic MYC.² Whether they have this role in DLBCL remains to be determined.

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
    title Publication timing
2013-01-01 : Zhang : DLBCL
2017-10-10 : Reddy : DLBCL
2021-05-05 : Hubschmann : DLBCL

Entity	Tier	Description
	1	high-confidence DLBCL gene[@zhangGeneticHeterogeneityDiffuse2013; @reddyGeneticFunctionalDrivers2017; @hubschmannMutationalMechanismsShaping2021b]

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

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.
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.