Methods and characteristics for the diagnosis of acute lymphoblastic leukemia

摘要

Methods for identification of leukemia or a genetic predisposition to leukemia are provided that are particularly applicable to acute lymphoblastic leukemia (ALL). A novel heterozygous germline variant, c.547G>A (p.Gly183Ser) in the octapeptide domain of PAX5, is used to identify those individuals with an enhanced risk or predisposition to ALL.