Table of Contents
Experimental Evidence
Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a gain of function (GOF).1
Relevance tier by entity
| Entity | Tier | Description |
|---|---|---|
| 1 | High-confidence DLBCL gene | |
| 1 | High-confidence MCL gene | |
| 1 | High-confidence MZL gene |
Mutation incidence in large patient cohorts (GAMBL reanalysis)
MCL
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DLBCL
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Mutation pattern and selective pressure estimates
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NOTCH2 Hotspots
| Chromosome | Coordinate (hg19) | ref>alt | HGVSp |
|---|---|---|---|
| chr1 | 120458147 | G>A | R2400* |
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Expression
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References
1.
Lee
SY, Kumano K, Nakazaki K, Sanada M, Matsumoto A, Yamamoto G, Nannya Y,
Suzuki R, Ota S, Ota Y, Izutsu K, Sakata-Yanagimoto M, Hangaishi A,
Yagita H, Fukayama M, Seto M, Kurokawa M, Ogawa S, Chiba S.
Gain-of-function mutations and copy number increases of
Notch2 in diffuse large B-cell
lymphoma. Cancer Sci. 2009 May;100(5):920–926.
2.
Beà
S, Valdés-Mas R, Navarro A, Salaverria I, Martín-Garcia D, Jares P, Giné
E, Pinyol M, Royo C, Nadeu F, Conde L, Juan M, Clot G, Vizán P, Croce
LD, Puente DA, López-Guerra M, Moros A, Roue G, Aymerich M, Villamor N,
Colomo L, Martínez A, Valera A, Martín-Subero JI, Amador V, Hernández L,
Rozman M, Enjuanes A, Forcada P, Muntañola A, Hartmann EM, Calasanz MJ,
Rosenwald A, Ott G, Hernández-Rivas JM, Klapper W, Siebert R, Wiestner
A, Wilson WH, Colomer D, López-Guillermo A, López-Otín C, Puente XS,
Campo E. Landscape of
somatic mutations and clonal evolution in mantle cell lymphoma.
PNAS. 2013;110(45):18250–18255.
3.
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
4.
Zhang J, Grubor V, Love CL, Banerjee A,
Richards KL, Mieczkowski PA, Dunphy C, Choi W, Au WY, Srivastava G,
Lugar PL, Rizzieri DA, Lagoo AS, Bernal-Mizrachi L, Mann KP, Flowers C,
Naresh K, Evens A, Gordon LI, Czader M, Gill JI, Hsi ED, Liu Q, Fan A,
Walsh K, Jima D, Smith LL, Johnson AJ, Byrd JC, Luftig MA, Ni T, Zhu J,
Chadburn A, Levy S, Dunson D, Dave SS. Genetic heterogeneity of diffuse
large B-cell lymphoma. Proceedings of the
National Academy of Sciences of the United States of America.
2013;110:1398–1403. PMCID: PMC3557051