Constitutional mutations of the CHEK2 gene are a risk factor for MDS, but not for de novo AML

The CHEK2 is a tumor suppressor gene (locus 22q12.1), that encodes the cell cycle G2 checkpoint kinase, which plays a key role in cell response to DNA damage (DDR) induced by replication stress and double strand DNA breaks. After ATM (ataxia telangiectasia mutated gene) - mediated activation, CHEK2 can phosphorylate several substrates involved in cell cycle regulation, DNA repair (e.g. BRCA1-breast cancer susceptibility gene 1), TP53 signaling, as well as induction and regulation of apoptosis [1,2].

Source: Leukemia Research - June 3, 2018 Category: Hematology Authors: Hanna Janiszewska, Aneta B ąk, Katarzyna Skonieczka, Anna Jaśkowiec, Marek Kiełbiński, Anna Jachalska, Maria Czyżewska, Bożena Jaźwiec, Małgorzata Kuliszkiewicz-Janus, Jarosław Czyż, Kazimierz Kuliczkowski, Olga Haus Tags: Research paper Source Type: research