Department of Physics, Chemistry and Biology (IFM)

In present thesis,

•  We identified activating mutation of Notch1 in 6.7% of CLL patient material at diagnosis.
• Overall survival (OS) of Notch1 mutated patients is significantly lower and hence, the Notch1 mutational activation is of crucial importance for disease progression.
•  We found frequent loss of Notch1 allele which also relate with poor prognosis. Therefore, we suggests for further investigations of the role Notch1.
•  No mutations were observed in investigated region of Notch2 and no significant result was observed for CNV.