NOTCH1

Overview

The relevance of NOTCH1 mutations in various malignancies has been well established. However, due to minimal support in the original primary data and very few mutations reported in subsequent BL studies, this gene is very unlikely to be relevant in BL.

The variants reported in this gene in BL failed QC

History

%%{init: { 'logLevel': 'debug', 'theme': 'dark' } }%% timeline title Publication timing 2011-07-31 : Pasqualucci : DLBCL 2012-08-27 : Rossi : MZL 2012-12-01 : Love : BL 2013-11-05 : Bea : MCL

Relevance tier by entity

Entity Tier Description
MZL 1 high-confidence MZL gene1
BL 3 Retired, Failed QC2
DLBCL 1 high-confidence DLBCL gene
MCL 1 high-confidence MCL gene

Mutation incidence in large patient cohorts (GAMBL reanalysis)

Entity source frequency (%)
BL GAMBL genomes+capture 4.16
BL Thomas cohort NA
BL Panea cohort NA
DLBCL GAMBL genomes 3.44
DLBCL Schmitz cohort 8.94
DLBCL Reddy cohort 3.40
DLBCL Chapuy cohort 2.99
MCL GAMBL genomes 5.21

Mutation pattern and selective pressure estimates

Entity aSHM Significant selection dN/dS (missense) dN/dS (nonsense)
BL No No 1.031 0
DLBCL No No 0.792 0
FL No No 2.864 0

NOTCH1 Hotspots

Chromosome Coordinate (hg19) ref>alt HGVSp
chr9 139401207 C>T V1288I
chr9 139401199 G>C D1290E

View coding variants in ProteinPaint hg19 or hg38

View all variants in GenomePaint hg19 or hg38

NOTCH1 Expression

Representative Mutations

BL3

Rating ★ ☆ ☆ ☆ ☆

All Mutations

BL3

1061 1096 324 508 513

References

1.
Rossi D, Trifonov V, Fangazio M, Bruscaggin A, Rasi S, Spina V, Monti S, Vaisitti T, Arruga F, Famà R, Ciardullo C, Greco M, Cresta S, Piranda D, Holmes A, Fabbri G, Messina M, Rinaldi A, Wang J, Agostinelli C, Piccaluga PP, Lucioni M, Tabbò F, Serra R, Franceschetti S, Deambrogi C, Daniele G, Gattei V, Marasca R, Facchetti F, Arcaini L, Inghirami G, Bertoni F, Pileri SA, Deaglio S, Foà R, Dalla-Favera R, Pasqualucci L, Rabadan R, Gaidano G. The coding genome of splenic marginal zone lymphoma: Activation of NOTCH2 and other pathways regulating marginal zone development. J Exp Med. 2012 Aug 27;209(9):1537–1551. PMCID: PMC3428941
2.
Love C, Sun Z, Jima D, Li G, Zhang J, Miles R, Richards KL, Dunphy CH, Choi WWL, Srivastava G, Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers CR, Naresh KN, Evens AM, Chadburn A, Gordon LI, Czader MB, Gill JI, Hsi ED, Greenough A, Moffitt AB, McKinney M, Banerjee A, Grubor V, Levy S, Dunson DB, Dave SS. The genetic landscape of mutations in Burkitt lymphoma. Nat Genet. 2012 Dec;44(12):1321–1325. PMCID: PMC3674561

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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