CDC73 and bone marrow failure syndrome: PVs in CDC73 cause ‘hyperparathyroidism-jaw tumor syndrome’ and parathyroid carcinoma,[48] and have been linked with hematologic cancer in mouse models.[49] RNA sequencing of leukemic cells from these patients showed no LOH, making a causal association less likely but not impossible.[50] Furthermore, we identified two patients with heterozygous deleterious variants in ERCC6L2, a gene linked to a bone marrow failure syndrome.[51] These patients were diagnosed with T-lineage acute lymphoblastic leukemia (ALL) and rhabdomyosarcoma, respectively.