BTG2 - morinlab/LLMPP GitHub Wiki

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

BTG2

Overview

BTG2 is one of a number of genes affected by aberrant somatic hypermutation in B-cell lymphomas, which complicates the interpretation of mutations at this locus. Mutations in the BTG2 gene have been implicated in the pathogenesis of diffuse large B-cell lymphoma (DLBCL), contributing to the development and progression of the disease. These mutations are a feature of the MCD genetic subgroup of DLBCL. The biological function of BTG2 mutations and their role in lymphomagenesis remains poorly understood. Due to minimal support in the original primary data and very few mutations reported in subsequent studies, this gene is very unlikely to be relevant in BL.

<<Warn("The variants reported in this gene in BL failed QC")>>

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%%
timeline
    title Publication timing
2011-07-27 : Morin : DLBCL
      2012-12-01 : Love : BL
2017-10-10 : Reddy : DLBCL
2018-04-12 : Schmitz : DLBCL
2018-10-01 : Arthur : DLBCL
2021-05-05 : Hubschmann : DLBCL

Relevance tier by entity

Entity	Tier	Description
	3	Retired, Failed QC[@loveGeneticLandscapeMutations2012]
	1	aSHM target and high-confidence DLBCL gene [@morinFrequentMutationHistonemodifying2011]
	1	aSHM target and high-confidence FL gene [@morinFrequentMutationHistonemodifying2011]

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity	source	frequency (%)
BL	GAMBL genomes+capture	4.85
BL	Thomas cohort	4.20
BL	Panea cohort	9.90
DLBCL	GAMBL genomes	13.38
DLBCL	Schmitz cohort	17.23
DLBCL	Reddy cohort	9.21
DLBCL	Chapuy cohort	5.98
FL	GAMBL genomes	4.39