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

Entity Tier Description
PMBL 2 relevance in PMBL/cHL/GZL not firmly established1
MZL 2 relevance in MZL not firmly established2
BL 1-a aSHM target and high-confidence BL gene3
DLBCL 1-a aSHM target and high-confidence DLBCL gene4
FL 2-a aSHM target; Although recurrent, the relevance of mutations in FL is tenuous

Mutation incidence in large patient cohorts (GAMBL reanalysis)

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Cannot include /FL_MYC.md - does not exist yet

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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

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

MYC 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.

Citing

If you use the information or data from this site, please cite

Krysta Coyle, Kostiantyn Dreval, Daniel Hodson and Ryan D. Morin. Audit of B-cell cancer genes. Blood Adv (2025) 9 (8): 2019–2031.

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