Recurrent somatic JAK-STAT pathway variants within a RUNX1-mutated pedigree.
Tawana K, Wang J, Király PA, Kállay K, Benyó G, Zombori M, Csomor J, Al Seraihi A, Rio-Machin A, Matolcsy A, Chelala C, Cavenagh J, Fitzgibbon J, Bödör C.
Tawana K, et al. Among authors: chelala c.
Eur J Hum Genet. 2017 Aug;25(8):1020-1024. doi: 10.1038/ejhg.2017.80. Epub 2017 May 17.
Eur J Hum Genet. 2017.
PMID: 28513614
Free PMC article.
We report a new RUNX1 family where three sisters harboring a germline nonsense RUNX1 variant, c.601C>T (p.(Arg201*)), developed acute myelomonocytic leukemia (AML) at 5 years of age. ...
We report a new RUNX1 family where three sisters harboring a germline nonsense RUNX1 variant, c.601C>T (p.(Arg201*)), developed ac …