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RUNX1 mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML

We present the clinical phenotypes and genetic mutations detected in 10 novel RUNX1 mutated FPD-MM families. Genomic analyses on these families detected two partial gene deletions, three novel mutations and five recurrent mutations as the germline RUNX1 alterations leading to FPD-MM. On 15 individuals, across the 10 families, we performed additional whole exome or myeloid panel sequencing on blood or bone marrow to determine somatic mutations that co-exist with the germline RUNX1 mutation in tumour and pre-leukaemic states.

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Dataset ID Description Technology Samples
EGAD00001006010 Illumina HiSeq 2500 Ion Torrent PGM Ion Torrent Proton NextSeq 500 16
Publications Citations
RUNX1-mutated families show phenotype heterogeneity and a somatic mutation profile unique to germline predisposed AML.
Blood Adv 4: 2020 1131-1144
51