FBXW7 - morinlab/LLMPP GitHub Wiki

FBXW7

Overview

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.

History

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timeline
    title Publication timing
      2013-01-01 : Zhang : DLBCL

Relevance tier by entity

Entity Tier Description
DLBCL 1 high-confidence DLBCL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 2.10
DLBCL Schmitz cohort 2.98
DLBCL Reddy cohort 1.30
DLBCL Chapuy cohort 1.71

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 3.846 0.000
DLBCL No No 2.734 10.734
FL No No 2.987 22.593

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

FBXW7 Expression

References

  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.
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