This talk will tell us about the absolute risk (or penetrance) of DDX41 germline variants and their impact relative to other predisposing mutations in myeloid neoplasms, together with their genetics and other clinical impacts, such as unique co-mutation patterns and mutational trajectory from MDS to AML, and their effects on clinical outcomes.
- Saiki et al, Combined landscape of single-nucleotide variants and copy number alterations in clonal hematopoiesis. Nat Med 2021
- Fuji et al. Molecular classification and diagnostics of upper urinary tract urothelial carcinoma. Cancer Cell 2021
- Ochi Y et al. Combined Cohesin-RUNX1 Deficiency Synergistically Perturbs Chromatin Looping and Causes Myelodysplastic Syndromes. Cancer Discov. 2020
- Kakiuchi N et al. Frequent mutations that converge on the NFKBIZ pathway in ulcerative colitis. Nature2020;577:260
- Yokoyama A et al. Age-related remodelling of oesophageal epithelia by mutated cancer drivers. Nature2019;565:312
- Shiozawa Y et al. Aberrant splicing and defective mRNA production induced by somatic spliceosome mutations in myelodysplasia. Nat Commun2018;9:3649
- Seki M et al. Recurrent SPI1 (PU.1) fusions in high-risk pediatric T cell acute lymphoblastic leukemia. Nat Genet. 2017;49:1274
- Polpasert et al. Inherited and Somatic Defects in DDX41in Myeloid Neoplasms. Cancer Cell 2015 27:658
- Kataoka K et al.Integrated molecular analysis of adult T cell leukemia/lymphoma. NatureGenet 2015 47 1304
- Yoshizato T et al. Somatic Mutations and Clonal Hematopoiesis in Aplastic Anemia. N Engl J Med2015;373:35
- Yoshida K et al. Frequent pathway mutations of splicing machinery in myelodysplasia Nature2011;478:64
Invited by Michaela Fontenay.