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Published on: October 17, 2025
Genetic defects in hematopoietic transcription factors and predisposition to acute lymphoblastic leukemia
Yoshihiro Gocho1,2, Jun J Yang1,2,3
1Hematological Malignancies Program, Comprehensive Cancer Center.
Abstract:
Recent genome-wide studies have revealed a plethora of germline variants that significantly influence the susceptibility to acute lymphoblastic leukemia (ALL), thus providing compelling evidence for genetic inheritance of this blood cancer. In particular, hematopoietic transcription factors (eg, ETV6, PAX5, IKZF1) are most frequently implicated in familial ALL, and germline variants in these genes confer strong predisposition (albeit with incomplete penetrance). Studies of germline risk factors for ALL provide unique insights into the molecular etiology of this leukemia.
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