Article
Whole exome sequencing reveals a C-terminal germline variant in CEBPA-associated acute myeloid leukemia: 45-year follow up of a large family.
Haematologica - 1 Jul 2016
Pathak Anand, Seipel Katja, Pemov Alexander, Dewan Ramita, Brown Christina, Ravichandran Sarangan, Luke Brian T, Malasky Michael, Suman Shalabh, Yeager Meredith, Gatti Richard A, Caporaso Neil E, Mulvihill John J, Goldin Lynn R, Pabst Thomas, McMaster Mary L, Stewart Douglas R
Abstract excerpt
Familial acute myeloid leukemia is rare and linked to germline mutations in RUNX1, GATA2 or CCAAT/enhancer binding protein-α (CEBPA). We re-evaluated a large family with acute myeloid leukemia originally seen at NIH in 1969. We used whole exome sequencing to study this family, and conducted in silico bioinformatics analysis, protein structural modeling and laboratory experiments to assess the impact of the...
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