Table of Contents
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.
Relevance tier by entity
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Mutation incidence in large patient cohorts (GAMBL reanalysis)
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Mutation pattern and selective pressure estimates
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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 |
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Expression
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References
1.
Duns
G, Viganò E, Ennishi D, Sarkozy C, Hung SS, Chavez E, Takata K, Rushton
C, Jiang A, Ben-Neriah S, Woolcock BW, Slack GW, Hsi ED, Craig JW,
Hilton LK, Shah SP, Farinha P, Mottok A, Gascoyne RD, Morin RD, Savage
KJ, Scott DW, Steidl C. Characterization of
DLBCL with a PMBL gene expression
signature. Blood. 2021 Jul 15;138(2):136–148.
2.
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
3.
Johnston JM, Carroll WL. C-myc hypermutation in
Burkitt’s lymphoma. Leuk Lymphoma. 1992
Dec;8(6):431–439.
4.
Pasqualucci L, Neumeister P, Goossens T,
Nanjangud G, Chaganti RS, Küppers R, Dalla-Favera R. Hypermutation of multiple
proto-oncogenes in B-cell diffuse large-cell
lymphomas. Nature. 2001 Jul 19;412(6844):341–346.


