Germline alterations of acute myeloid leukemia

Germline variants may increase the risk of cancer. A systematic analysis was conducted of a consecutive series of primary and secondary adult acute myeloid leukemia (AML) patients. Exome sequencing was performed on leukemic blasts (somatic) and a skin biopsy (germline) followed by analysis on 35 acute myeloid leukemia or cancer predisposition candidate genes. Exome data were available from 68/80 (85%) patients, and full clinical history was available from all patients. The analysis revealed 34 rare single-nucleotide variants or short indels in 16 genes to be functionally adverse in silico.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset

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Dataset ID	Description	Technology	Samples
EGAD00001003894	The dataset (vcf files) consists of rare germline variants of 68 Finnish acute myeloid leukemia patients. We performed exome sequencing and filtered the germline variants against ExAC total MAF<0.01 in two gene panels. The 35 genes in the panels studied here have previously been associated with hematological malignancies and/or solid tumors. The dataset contains only variants of the two gene panels.		68