CARD11 - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @yanBCRTLRSignaling2012, @wuGeneticHeterogeneityPrimary2016, @lenzOncogenicCARD11Mutations2008, @morinFrequentMutationHistonemodifying2011,
Overview
Mutations in CARD11 were initially described as enriched in the ABC subgroup of DLBCL.[@lenzOncogenicCARD11Mutations2008] More recent data contradicts this association and has implicated CARD11 in FL and additional B-cell lymphomas including FL and MCL.[@morinFrequentMutationHistonemodifying2011; @wuGeneticHeterogeneityPrimary2016]
Experimental Evidence
The functional effect of CARD11 mutations in DLBCL was explored in the original study.[@lenzOncogenicCARD11Mutations2008]
Relevance tier by entity
include:tables/table1_CARD11.md
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
include:tables/DLBCL_CARD11.md
MCL
FL
Mutation pattern and selective pressure estimates
CARD11 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr7 | 2979522 | T>C | E242G |
| chr7 | 2979521 | T>A | E242D |
| chr7 | 2979513 | A>G | L245P |
| chr7 | 2979508 | T>C | R247G |
| chr7 | 2979501 | T>G | Q249P |
| chr7 | 2979499 | A>G | S250P |
| chr7 | 2979495 | A>G | L251P |
| chr7 | 2979493 | T>A | K252* |
| chr7 | 2979486 | T>C | K254R |
| chr7 | 2979481 | C>T | D256N |
| chr7 | 2977614 | T>C | D357G |
| chr7 | 2977614 | T>A | D357V |
| chr7 | 2977604 | C>A | M360I |
| chr7 | 2977602 | T>G | Y361S |
| chr7 | 2977602 | T>C | Y361C |
include:tables/browser_CARD11.md
Expression
include:tables/mermaid_CARD11.md