Walid S. Hamadou and colleagues conduct a study to determine whether JAK2, CBL, RUNX1, and NPM1 germline genes mutations are involved in familial hematological malignancies. They reported a heterozygous intronic c.1641+6T>C JAK2 variant (rs182123615) found in two independent familial cases diagnosed with gastric lymphoma and Hodgkin lymphoma and, an insertion 846 in. TGTT in exon 12 of NPM1 gene that may impact the normal reading frame.
Hamadou, Walid S. et al. Annals of Hematology.
"Alamut enables us to interrogate and manage our data with ease. It has an intuitive interface, which brings together a range of routinely used resources, saving a significant amount of time & ensuring a consistent approach to variant interrogation."
KATE THOMSON, FRCPath
Cardiac Service Oxford University Hospitals