1. Causative germline variant p.Y259C of DDX41 recurrently identified in acute lymphoblastic leukaemia.
- Author
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Huo, Li, Zhang, Zhibo, Zhou, Haixia, Xie, Jundan, Jiang, Airui, Wang, Qian, Ding, Zixuan, Dai, Haiping, Liu, Dandan, Wu, Ni, Qiu, Qiaocheng, Ma, Liang, Wang, Man, Wang, Wenjuan, Xue, Shengli, Chen, Zixing, Wu, Depei, Yao, Hong, Chen, Suning, and Shen, Hongjie
- Subjects
LYMPHOBLASTIC leukemia ,ACUTE leukemia ,GERM cells ,HEREDITARY nonpolyposis colorectal cancer ,SOMATIC mutation ,PRELEUKEMIA ,NUCLEOTIDE sequencing - Abstract
I DDX41 i mutations were detected in 0.6% (2/329) adult ALL patients of our cohorts comparable with a recent report.[10] Previous studies showed that I DDX41 i -mutated patients of MNs presented as male predominance and old age. Germline DDX41 mutations define a significant entity within adult MDS/AML patients. We found three variants in I DDX41 i (p.R525H, p.G530D and p.Y259C) and confirmed the germline origin of p.Y259C of I DDX41 i by Sanger sequencing. [Extracted from the article]
- Published
- 2023
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