Simone Feurstein

TL;DR: Standardized variant curation is essential for clinical care recommendations for patients with inherited disorders and the application of RUNX1-specific criteria resulted in a reduction in CONF and VUS variants by 33%, emphasizing the benefit of gene- specific criteria and sharing internal laboratory data.

TL;DR: It is demonstrated that NGS-based prognostic panels may identify individuals at risk for HHMs despite not being designed for this purpose, and variants known to cause Li-Fraumeni syndrome as well as known pathogenic variants in genes such as DDX41 and GATA2 are especially likely to be of germ line origin.

TL;DR: Current developments in clinical translation include techniques detailing the acquisition of appropriate germline material for patient work-ups, methods for genetic testing, and nuances essential for the treatment and clinical management of patients with a genetic predisposition to hematologic malignancies.

TL;DR: The role of ETV6 in hematopoiesis, especially in myeloid differentiation and maturation, is focused upon, and the functional effects of mutant ETV 6 are described.