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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