Article
Ultrasensitive Detection of NOTCH1 c.7544_7545delCT Mutations in Chronic Lymphocytic Leukemia by Droplet Digital PCR Reveals High Frequency of Subclonal Mutations and Predicts Clinical Outcome in Cases with Trisomy 12.
The Journal of molecular diagnostics : JMD - 1 Apr 2020
Hoofd Catherine, Huang Steven J, Gusscott Samuel, Lam Sonya, Wong Rachel, Johnston Alexa, Ben-Neriah Susana, Steidl Christian, Scott David W, Bruyere Helene, Gillan Tanya L, Toze Cynthia L, Gerrie Alina S, Weng Andrew P
Abstract excerpt
NOTCH1 is recurrently mutated in chronic lymphocytic leukemia (CLL), most commonly as a 2-bp frameshift deletion (c.7541_7542delCT). This mutated allele encodes a truncated form of the receptor (p.P2514Rfs∗4) lacking the C-terminal proline, glutamic acid, serine, and threonine (PEST) degradation domain that increases NOTCH1 signaling duration. NOTCH1 mutation has been associated with poor clinical outcomes in...
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