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rdmorin edited this page May 22, 2024 · 24 revisions

KRAS

Overview

KRAS mutations are rare but occur in some cases of DLBCL.1 These often affect the most common KRAS hotspot sites that are mutated in other solid cancers (G12 and G13).

Relevance tier by entity

Entity Tier Description
DLBCL 1 high-confidence DLBCL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
DLBCL GAMBL genomes 1.91
DLBCL Schmitz cohort 3.62
DLBCL Reddy cohort 1.70
DLBCL Chapuy cohort 2.56

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 27.314 0
DLBCL No No 5.336 0
FL No No 9.959 0

Note

First described in DLBCL in 2012 by Lohr JG

KRAS Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr12 25398285 C>A G12C
chr12 25398284 C>T G12D
chr12 25398284 C>A G12V
chr12 25398282 C>A G13C
chr12 25398281 C>T G13D

View coding variants in ProteinPaint hg19 or hg38

image

View all variants in GenomePaint hg19 or hg38

image

References

  1. Lohr JG, Stojanov P, Lawrence MS, Auclair D, Chapuy B, Sougnez C, Cruz-Gordillo P, Knoechel B, Asmann YW, Slager SL, Novak AJ, Dogan A, Ansell SM, Link BK, Zou L, Gould J, Saksena G, Stransky N, Rangel-Escareño C, Fernandez-Lopez JC, Hidalgo-Miranda A, Melendez-Zajgla J, Hernández-Lemus E, Schwarz-Cruz y Celis A, Imaz-Rosshandler I, Ojesina AI, Jung J, Pedamallu CS, Lander ES, Habermann TM, Cerhan JR, Shipp MA, Getz G, Golub TR. Discovery and prioritization of somatic mutations in diffuse large B-cell lymphoma (DLBCL) by whole-exome sequencing. Proc Natl Acad Sci U S A. 2012 Mar 6;109(10):3879-84. doi: 10.1073/pnas.1121343109. Epub 2012 Feb 17. PMID: 22343534; PMCID: PMC3309757.

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