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The complex genetic landscape of familial MDS and AML reveals pathogenic germline variants

25 Feb 2020

Abstract excerpt

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...

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PMID: 32098966
DOI: 10.1038/s41467-020-14829-5

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