Germline variant analysis in childhood AML

Analysis of rare germline variants in childhood AML in a large panel of cancer predisposition genes (n=216) compiled from literature review, and including genes involved in familial hematological malignancies (HM) and bone marrow failure (BMF) syndromes. The prevalence of extremely rare variants in the combined childhood AML cohort (n=72) was compared to that in the Medical Genome Reference Bank (MGRB; n=2570) comprising individuals aged at least 70 years with no history of cardiovascular disease, dementia or cancer. This showed a significant increase of rare alleles in childhood AML for 100% of subset comparisons. Next additional stringent filtering was applied to determine predicted damaging germline predisposition variants. Overall, 21% of the Australian cohort and 25% of the TARGET cohort presented germline variants predicted to be damaging predisposition variants.

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

1 Dataset 1 Publication

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001008783	This dataset contains one vcf file with variants from whole exome sequencing of 24 paediatric AML samples at diagnosis.		1

Publications	Citations
Childhood acute myeloid leukemia shows a high level of germline predisposition. Samaraweera SE, Wang PPS, Li KL, Casolari DA, Feng J, Pinese M, Maung KZY, Leo P, Cowley M, Perkins K, Smith AM, Ellis J, Wee A, Hiwase DK, Scott HS, Schreiber AW, Brown AL, Deans AJ, Ross DM, Moore AS, Gonda TJ, Hahn CN, D'Andrea RJ. Blood 138: 2021 2293-2298	7