CASP8 - morinlab/LLMPP GitHub Wiki


bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true

CASP8

Overview

Caspase-8 mutations are relatively rare but have been documented in various non-Hodgkin lymphomas (NHLs). One study found no CASP8 mutations in gastrointestinal lymphomas, suggesting that these mutations may not be prevalent in all lymphoma types. Due to the rarity of these mutations, their role remains poorly understood. Loss of caspase-8 may promote lymphomagenesis by impairing cytokinesis and increasing chromosomal aberrations.

History

Mutations in this gene were first described in DLBCL in 2017 by Reddy et al.1

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timeline
    title Publication timing
      2017-10-10 : Reddy : DLBCL
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Relevance tier by entity

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

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 2.68
DLBCL Schmitz cohort 1.06
DLBCL Reddy cohort 1.20
DLBCL Chapuy cohort 1.28

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 12.972 0
DLBCL No No 6.371 0
FL No No 8.788 0

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

CASP8 Expression

References

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