Rare variants affecting the Fanconi Anemia/homologous recombination DNA repair gene network confer increased risk for AML and are associated with abnormal karyotype. Homo sapiens

This study was to compare gene expression profiles of human AMLs that either carry or lack potentially deleterious variants in genes of the Fanconi Anemia-Homologous Recombination DNA repair network” . Variants were identified by whole exome sequencing of the relevant genes. Overall design: In total, 145 AML Diagnosis Samples were arrayed with no duplicates. CD34+ cells were used as normal controls. CML and normal Mono-nuclear cells (MNC) samples were not used for analysis. Adelaide Samples were sourced from the South Australian Cancer Research Biobank, ALLG Samples were sourced from the Australian Leukaemia an Lymphoma Group