Article
Constitutional mutations of the CHEK2 gene are a risk factor for MDS, but not for de novo AML.
Leukemia research - 1 Jul 2018
Janiszewska Hanna, Bąk Aneta, Skonieczka Katarzyna, Jaśkowiec Anna, Kiełbiński Marek, Jachalska Anna, Czyżewska Maria, Jaźwiec Bożena, Kuliszkiewicz-Janus Małgorzata, Czyż Jarosław, Kuliczkowski Kazimierz, Haus Olga
Abstract excerpt
CHEK2 plays a key role in cellular response to DNA damage, and also in regulation of mitosis and maintenance of chromosomal stability. In patients newly diagnosed with myelodysplastic syndrome (MDS, n = 107) or acute myeloid leukemia (AML, n = 117) congenital CHEK2 mutations (c.444 + 1G > A, c.1100delC, del5395, p.I157 T) were tested by PCR and sequencing analysis. The karyotype of bone marrow cells of each...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.