Study

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

Study ID Alternative Stable ID Type
EGAS00001004273 Other

Study Description

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.

Study Datasets 1 dataset.

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Dataset ID Description Technology Samples
EGAD00001006010
This dataset consists of 20 fastq files in total from exome and myeloid gene panel sequencing of 15 carriers of germline RUNX1 mutations from 10 different families.
Illumina HiSeq 2500,Ion Torrent PGM,Ion Torrent Proton,NextSeq 500 16

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