MYC - morinlab/LLMPP GitHub Wiki
bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @dunsCharacterizationDLBCLPMBL2021, @jalladesExomeSequencingIdentifies2017, @johnstonCmycHypermutationBurkitt1992, @pasqualucciHypermutationMultipleProtooncogenes2001
Overview
MYC 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.
Experimental Evidence
Driver mutations affecting this gene in DLBCL/FL/BL have been experimentally demonstrated to cause a gain of function (GOF).[@freieGermlinePointMutation2024]
Relevance tier by entity
Mutation incidence in large patient cohorts (GAMBL reanalysis)
DLBCL
FL
BL
Mutation pattern and selective pressure estimates
aSHM regions
| chr_name | hg19_start | hg19_end | region | regulatory_comment |
|---|---|---|---|---|
| chr8 | 128748352 | 128749427 | TSS | active_promoter |
MYC Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr8 | 128750677 | C>A | P72T |
| chr8 | 128750677 | C>G | P72A |
| chr8 | 128750677 | C>T | P72S |
| chr8 | 128750677 | CC>TT | P72F |
| chr8 | 128750678 | C>G | P72R |
| chr8 | 128750678 | C>T | P72L |
| chr8 | 128750680 | A>G | T73A |
| chr8 | 128750681 | C>A | T73N |
| chr8 | 128750681 | C>T | T73I |
| chr8 | 128750681 | CC>AT | T73N |
| chr8 | 128750681 | CC>GT | T73S |
| chr8 | 128750681 | CC>TA | T73I |
| chr8 | 128750681 | CC>TG | T73M |
| chr8 | 128750681 | CC>TT | T73I |
| chr8 | 128750683 | C>G | P74A |
| chr8 | 128750683 | C>T | P74S |
| chr8 | 128750684 | C>T | P74L |
| chr8 | 128750686 | C>A | P75T |
| chr8 | 128750686 | C>G | P75A |
| chr8 | 128750686 | C>T | P75S |
| chr8 | 128750686 | CC>TT | P75F |
| chr8 | 128750687 | C>A | P75H |
| chr8 | 128750687 | C>G | P75R |
| chr8 | 128750692 | T>C | S77P |
| chr8 | 128750692 | T>G | S77A |
| chr8 | 128750693 | C>G | S77C |
| chr8 | 128750695 | C>T | P78S |
| chr8 | 128750696 | C>G | P78R |
Expression
