FBXO11.md
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# FBXO11
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## Overview
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-Somatic mutations in FBXO11 are common in BL<sup>1,2</sup> and appear in a small number of DLBCLs.<sup>3</sup> Mutations lead to stabilization of BCL6, an important transcriptional repressor involved in lymphomagenesis.<sup>4</sup> These mutations present a potential novel target for therapeutic intervention, particularly through strategies aimed at degrading BCL6 or inhibiting its function.<sup>4</sup>
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+Somatic mutations in FBXO11 are common in BL<sup>1,2</sup> and appear in a small number of DLBCLs.<sup>3</sup> This gene has some recurrent sites of mutations (hot spots). Mutations lead to stabilization of BCL6, an important transcriptional repressor involved in lymphomagenesis.<sup>4</sup> These mutations present a potential novel target for therapeutic intervention, particularly through strategies aimed at degrading BCL6 or inhibiting its function.<sup>4</sup>
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## Relevance tier by entity
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> [!NOTE]
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> First described in BL in 2015 by Pighi et al<sup>1</sup> and described in DLBCL in 2021 by Hübschmann et al.<sup>5</sup>
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+## FBXO11 hot spots
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+|Chromosome|Coordinate|Mutation|HGVSp|
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+|:-:|:-:|:-:|:-:|
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+|chr2|48040426|T>A|N725I|
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+|chr2|48040427|T>C|N725D|
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+|chr2|48040427|T>G|N725H|
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+|chr2|48040427|T>A|N725Y|
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+|chr2|48040488|TA>GC|I704S|
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+|chr2|48040489|A>C|I704R|
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+|chr2|48040495|T>A|N702I|
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+|chr2|48040495|T>C|N702S|
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+|chr2|48040496|T>C|N702D|
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+|chr2|48040496|T>A|N702Y|
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+|chr2|48040500|T>A|E700D|
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+|chr2|48040500|T>G|E700D|
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+|chr2|48040501|T>A|E700V|
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+|chr2|48040510|C>T|G697D|
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+|chr2|48040511|C>G|G697R|
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View coding variants in ProteinPaint [hg19](https://morinlab.github.io/LLMPP/GAMBL/FBXO11_protein.html) or [hg38](https://morinlab.github.io/LLMPP/GAMBL/FBXO11_protein_hg38.html)
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