Table of Contents

Overview

Somatic mutations in FBXO11 are common in BL1 and appear in a small number of DLBCLs.2 This gene has some recurrent sites of mutations (hot spots). Mutations lead to stabilization of BCL6, an important transcriptional repressor involved in lymphomagenesis. These mutations present a potential novel target for therapeutic intervention, particularly through strategies aimed at degrading BCL6 or inhibiting its function.

Experimental Evidence

Driver mutations affecting this gene in DLBCL/BL have been experimentally demonstrated to cause a reduction or loss of function (LOF).3

Relevance tier by entity

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Mutation incidence in large patient cohorts (GAMBL reanalysis)

DLBCL

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BL

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Mutation pattern and selective pressure estimates

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FBXO11 hot spots

Chromosome Coordinate Mutation HGVSp
chr2 48040426 T>A N725I
chr2 48040427 T>C N725D
chr2 48040427 T>G N725H
chr2 48040427 T>A N725Y
chr2 48040488 TA>GC I704S
chr2 48040489 A>C I704R
chr2 48040495 T>A N702I
chr2 48040495 T>C N702S
chr2 48040496 T>C N702D
chr2 48040496 T>A N702Y
chr2 48040500 T>A E700D
chr2 48040500 T>G E700D
chr2 48040501 T>A E700V
chr2 48040510 C>T G697D
chr2 48040511 C>G G697R

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Expression

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References

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