BTG2 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @morinFrequentMutationHistonemodifying2011, @loveGeneticLandscapeMutations2012,
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.
Relevance tier by entity
Warnings
<<Warn("The variants reported in this gene in BL failed QC")>>
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
FL
Mutation pattern and selective pressure estimates
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr1 | 203274698 | 203275778 | intron | active_promoter |
include:tables/browser_BTG2.md
Expression
Representative Mutations
BL[@loveGeneticLandscapeMutations2012]
Rating
★ ★ ☆ ☆ ☆
All Mutations
BL[@loveGeneticLandscapeMutations2012]
include:tables/mermaid_BTG2.md