Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia

Abstract excerpt

Somatic mutations affecting ETV6 often occur in acute lymphoblastic leukemia (ALL), the most common childhood malignancy. The genetic factors that predispose to ALL remain poorly understood. Here we identify a novel germline ETV6 p. L349P mutation in a kindred affected by thrombocytopenia and ALL. A second ETV6 p. N385fs mutation was identified in an unrelated kindred characterized by thrombocytopenia, ALL and...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Acute Lymphoblastic Leukemia research
• Share to Acute Myeloid Leukemia Research
• Share to Chronic Myeloid Leukemia Treatments