FBXW7 - morinlab/LLMPP GitHub Wiki

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @kingUbiquitinLigaseFBXW72013, @hubschmannMutationalMechanismsShaping2021, @akhoondiFBXW7HCDC4General2007, @reddyGeneticFunctionalDrivers2017, @zhangGeneticHeterogeneityDiffuse2013,

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.[@akhoondiFBXW7HCDC4General2007] The most commonly observed mutations in those cancers are the hot spots R465 and R479.[@akhoondiFBXW7HCDC4General2007] In leukemias, FBXW7 mutations enhance the activity of leukemia-initiating cells by stabilizing oncogenic MYC.[@kingUbiquitinLigaseFBXW72013] Whether they have this role in DLBCL remains to be determined.

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@saffieFBXW7TriggersDegradation2020]