Occurrence of identical NOTCH1 mutation in non-twinned sisters with T-cell acute lymphoblastic leukemia.

摘要

Sporadic cases of hematological malignancies in children or young adults or embryonic tumors in sibling pairs have raised speculation that genetic susceptibility factors may be associated with these diseases. Recent genome-wide association studies in childhood acute lymphoblastic leukemia (ALL) have identified inherited gene variants associated with increased risk of disease. The excess of familial cancer occurrence may also be attributable to the fact that sibs share common environmental exposures, but studies to address this aspect are scarce.