BCL2 - morinlab/LLMPP GitHub Wiki

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @balSuperenhancerHypermutationAlters2022, @tanakaFrequentIncidenceSomatic1992, @sarkozyMutationalLandscapeGray2021, @burkhardtClinicalRelevanceMolecular2022

Overview

BCL2 mutations are frequently found in DLBCL, particularly in the germinal center B-cell (GCB) subtype, and are often located in the flexible loop domain and outside the BCL2-homology domains. These mutations are caused by the somatic hypermutation process. The presence of these mutations are strongly correlated with the presence of a translocation between BCL2 and one of the immunoglobulin loci. Selective pressure analysis did not identify this gene as significantly enriched for either missense or truncating mutations, indicating that many of these mutations may represent passengers. Although mutations may not be under positive selective pressure in the context of lymphomagenesis, some of these mutations may interfere with the function of BCL2 antagonists.

Relevance tier by entity

include:tables/table1_BCL2.md

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Mutation pattern and selective pressure estimates

include:tables/dnds_BCL2.md

aSHM regions

include:ashm_BCL2.md

BCL2 Hotspots

Chromosome	Coordinate (hg19)	ref>alt	HGVSp
chr18	60985854	T>C	M16V
chr18	60985854	T>A	M16L
chr18	60985853	A>T	M16K
chr18	60985852	C>T	M16I
chr18	60985849	C>G	K17N
chr18	60985842	G>A	H20Y
chr18	60985840	A>C	H20Q
chr18	60985838	T>G	Y21S
chr18	60985835	T>C	K22R
chr18	60985834	CT>TC	K22R

include:tables/browser_BCL2.md

Expression

include:tables/mermaid_BCL2.md