MCL1 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @reddyGeneticFunctionalDrivers2017, @dunsCharacterizationDLBCLPMBL2021, @paneaWholeGenomeLandscape2019,
Overview
MCL1 (Myeloid Cell Leukemia 1) is a member of the BCL2 family of proteins that play a critical role in inhibiting apoptosis. It is frequently overexpressed and sometimes mutated in DLBCL.[@dunsCharacterizationDLBCLPMBL2021; @paneaWholeGenomeLandscape2019] Recurrent chromosomal gains and amplifications of the MCL1 locus occur are frequent in ABC-DLBCLs.[@dunsCharacterizationDLBCLPMBL2021] MCL1 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.
Relevance tier by entity
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 1.85 |
| BL | Thomas cohort | 2.10 |
| BL | Panea cohort | 2.00 |
| DLBCL | GAMBL genomes | 2.49 |
| DLBCL | Schmitz cohort | 3.62 |
| DLBCL | Reddy cohort | 4.70 |
| DLBCL | Chapuy cohort | 3.42 |
Mutation pattern and selective pressure estimates
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr1 | 150550814 | 150552135 | intron | NA |
include:tables/browser_MCL1.md
Expression
Representative Mutations
DLBCL
Rating
★ ★ ☆ ☆ ☆
Rating
★ ★ ★ ☆ ☆
All Mutations
Reddy_2074T Reddy_2114T Reddy_2124T Reddy_2148T Reddy_2150T Reddy_2153T Reddy_2156T Reddy_2215T Reddy_2233T Reddy_2476T Reddy_2478T Reddy_2482T Reddy_2525T Reddy_2540T Reddy_2542T Reddy_2554T Reddy_2649T Reddy_2706T Reddy_2713T Reddy_2727T Reddy_2819T Reddy_2832T Reddy_2874T Reddy_2948T Reddy_2952T Reddy_3385T Reddy_3454T Reddy_3468T Reddy_3471T Reddy_3476T Reddy_3527T Reddy_3547T Reddy_3593T Reddy_3602T Reddy_3622T Reddy_3664T Reddy_3667T Reddy_3766T Reddy_3777T Reddy_3782T Reddy_3811T Reddy_3817T Reddy_3825T Reddy_3829T Reddy_3837T Reddy_3927T Reddy_3952T Reddy_3965T Reddy_3966T Reddy_3984T Reddy_689T Reddy_830T
include:tables/mermaid_MCL1.md