Genetic Defects in Hematopoietic Transcription Factors and Predisposition to Acute Lymphoblastic Leukemia

Yoshihiro Gocho and Jun J. Yang


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 (e.g., 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 of ALL would provide unique insight into the molecular etiology of this leukemia.

  • Submitted December 29, 2018.
  • Revision received July 12, 2019.
  • Accepted June 10, 2019.