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.
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Hamadou, Walid S. et al. Annals of Hematology.
"We have found Alamut to be an immensely useful tool, and would recommend Alamut to anyone looking for a powerful yet straightforward software program that is able to accurately catalogue and evaluate mutations."
JOHN GARCIA, Invitae
San Francisco, USA