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rdmorin edited this page May 19, 2024 · 42 revisions

BTG2 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.

Mutation tier

Entity Tier Description
BL 2-a aSHM target; Although recurrent, the relevance of mutations in BL is tenuous
DLBCL 1-a aSHM target and high-confidence DLBCL gene
FL 1-a aSHM target and high-confidence FL gene

Mutation incidence

Entity source frequency (%)
BL GAMBL genomes+capture 4.85
BL Thomas cohort 4.20
BL Panea cohort 9.90
DLBCL GAMBL genomes 13.38
DLBCL Schmitz cohort 17.23
DLBCL Reddy cohort 9.21
DLBCL Chapuy cohort 5.98
FL GAMBL genomes 4.39

Mutation pattern

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL Yes No 6.152 42.280
DLBCL Yes Yes 3.562 10.265
FL Yes No 6.073 0.000

aSHM regions

chr_name hg19_start hg19_end region regulatory_comment
chr1 203274698 203275778 intron active_promoter

Note

First described in BL in 2019 by Panea RI. First described in DLBCL in 2011 by Morin RD. First described in FL in 2011 by Morin RD

View coding variants in ProteinPaint hg19 or hg38

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View all variants in GenomePaint hg19 or hg38

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