Article
Somatic Recombination Between an Ancient and a Recent NOTCH2 Gene Variant Is Associated with the NOTCH2 Gain-of-Function Phenotype in Chronic Lymphocytic Leukemia.
International journal of molecular sciences - 22 Nov 2024
Hubmann Rainer, Hilgarth Martin, Löwenstern Tamara, Lienhard Andrea, Sima Filip, Reisinger Manuel, Hobel-Kleisch Claudia, Porpaczy Edit, Haferlach Torsten, Hoermann Gregor, Laccone Franco, Jungbauer Christof, Valent Peter, Staber Philipp B, Shehata Medhat, Jäger Ulrich
Abstract excerpt
Constitutively active NOTCH2 signaling is a hallmark in chronic lymphocytic leukemia (CLL). The precise underlying defect remains obscure. Here we show that the mRNA sequence coding for the NOTCH2 negative regulatory region (NRR) is consistently deleted in CLL cells. The most common NOTCH2ΔNRR-DEL2 deletion is associated with two intronic single nucleotide variations (SNVs) which either create (CTTAT, G>A for...
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