BCOR - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @jalladesExomeSequencingIdentifies2017, @nadeuGenomicEpigenomicInsights2020,
Overview
BCOR acts as a co-repressor of BCL6, and mutations in BCOR could impair its binding affinity to BCL6 and other partners. Overall, protein-altering mutations in BCOR seem to be rare in DLBCL and MCL.[@jalladesExomeSequencingIdentifies2017],[@nadeuGenomicEpigenomicInsights2020] One study reported a much higher prevalence of a hot spot mutation in BCOR but this result has not been reproduced.[@jalladesExomeSequencingIdentifies2017]
Relevance tier by entity
Mutation incidence in large patient cohorts (GAMBL reanalysis)
MCL
BCOR Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chrX | 39921444 | T>C | N1459S |
include:tables/browser_BCOR.md
Expression
include:tables/mermaid_BCOR.md