MYC
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.
History
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timeline
title Publication timing
1992-12-01 : Johnston : BL
2001-07-19 : Pasqualucci : DLBCL
2017-07-27 : Jallades : MZL
2021-07-15 : Duns : PMBL
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
 |
2 | relevance in PMBL/cHL/GZL not firmly establisheddunsCharacterizationDLBCLPMBL2021b? |
 |
2 | relevance in MZL not firmly established1 |
 |
1-a | aSHM target and high-confidence BL gene2 |
 |
1-a | aSHM target and high-confidence DLBCL genepasqualucciHypermutationMultipleProtooncogenes2001a? |
 |
2-a | aSHM target; Although recurrent, the relevance of mutations in FL is tenuous |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
| Entity | source | frequency (%) |
|---|---|---|
| BL | GAMBL genomes+capture | 61.89 |
| BL | Thomas cohort | 60.20 |
| BL | Panea cohort | 49.50 |
| DLBCL | GAMBL genomes | 10.90 |
| DLBCL | Schmitz cohort | 5.32 |
| DLBCL | Reddy cohort | 6.21 |
| DLBCL | Chapuy cohort | 6.41 |
| FL | GAMBL genomes | 0.92 |
Mutation pattern and selective pressure estimates
| Entity | aSHM | Significant selection | dN/dS (missense) | dN/dS (nonsense) |
|---|---|---|---|---|
| BL | Yes | Yes | 7.754 | 3.964 |
| DLBCL | Yes | Yes | 2.850 | 2.582 |
| FL | Yes | No | 4.998 | 0.000 |
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 |
View coding variants in ProteinPaint hg19 or hg38
View all variants in GenomePaint hg19 or hg38
MYC Expression
References
1.
Jallades L, Baseggio L, Sujobert P, Huet S,
Chabane K, Callet-Bauchu E, Verney A, Hayette S, Desvignes JP, Salgado
D, Levy N, Béroud C, Felman P, Berger F, Magaud JP, Genestier L, Salles
G, Traverse-Glehen A. Exome sequencing identifies recurrent
BCOR alterations and the absence of KLF2,
TNFAIP3 and MYD88 mutations in splenic diffuse
red pulp small B-cell lymphoma.
Haematologica. 2017 Oct;102(10):1758–1766. PMCID: PMC5622860
2.
Johnston JM, Carroll WL. C-myc hypermutation in
Burkitt’s lymphoma. Leuk Lymphoma. 1992
Dec;8(6):431–439.
