{"database":"EGA","file_versions":[],"scores":null,"additional":{"omics_type":["Genomics"],"study_type":["Exome Sequencing"],"full_dataset_link":["https://ega-archive.org/studies/EGAS00001006276"],"host":["EGA"],"description":["EGA study EGAS00001006276"],"dataset_title":["Germline variant analysis in childhood AML"],"repository":["EGA"],"category":["restricted"],"pubmed_title":["Childhood acute myeloid leukemia shows a high level of germline predisposition."],"pubmed_authors":["Samaraweera Saumya E SE, Wang Paul P S PPS, Li Ka Leung KL, Casolari Debora A DA, Feng Jinghua J, Pinese Mark M, Maung Kyaw Ze Ya KZY, Leo Paul P, Cowley Mark M, Perkins Kelly K, Smith Amanda M AM, Ellis Jonathan J, Wee Amilia A, Hiwase Devendra K DK, Scott Hamish S HS, Schreiber Andreas W AW, Brown Anna L AL, Deans Andrew J AJ, Ross David M DM, Moore Andrew S AS, Gonda Thomas J TJ, Hahn Christopher N CN, D'Andrea Richard J RJ"],"additional_accession":[]},"is_claimable":false,"name":"Germline variant analysis in childhood AML","description":"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.","dates":{"updated":"2022-06-29 12:10:32"},"accession":"EGAS00001006276","cross_references":{"TAXONOMY":["9606"],"pubmed":["34521114"],"EGA":["EGAD00001008783","EGAC00001002686"]}}