Article
Noncoding genetic variation in GATA3 increases acute lymphoblastic leukemia risk through local and global changes in chromatin conformation.
Nature genetics - 1 Feb 2022
Yang Hongbo, Zhang Hui, Luan Yu, Liu Tingting, Yang Wentao, Roberts Kathryn G, Qian Mao-Xiang, Zhang Bo, Yang Wenjian, Perez-Andreu Virginia, Xu Jie, Iyyanki Sriranga, Kuang Da, Stasiak Lena A, Reshmi Shalini C, Gastier-Foster Julie, Smith Colton, Pui Ching-Hon, Evans William E, Hunger Stephen P, Platanias Leonidas C, Relling Mary V, Mullighan Charles G, Loh Mignon L, Yue Feng, Yang Jun J
Abstract excerpt
Inherited noncoding genetic variants confer significant disease susceptibility to childhood acute lymphoblastic leukemia (ALL) but the molecular processes linking germline polymorphisms with somatic lesions in this cancer are poorly understood. Through targeted sequencing in 5,008 patients, we identified a key regulatory germline variant in GATA3 associated with Philadelphia chromosome-like ALL (Ph-like ALL)....
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