Ontology highlight
ABSTRACT:
SUBMITTER: Rio-Machin A
PROVIDER: S-EPMC7042299 | biostudies-literature | 2020 Feb
REPOSITORIES: biostudies-literature
Nature communications 20200225 1
The inclusion of familial myeloid malignancies as a separate disease entity in the revised WHO classification has renewed efforts to improve the recognition and management of this group of at risk individuals. Here we report a cohort of 86 acute myeloid leukemia (AML) and myelodysplastic syndrome (MDS) families with 49 harboring germline variants in 16 previously defined loci (57%). Whole exome sequencing in a further 37 uncharacterized families (43%) allowed us to rationalize 65 new candidate l ...[more]