Frequency and Functional Characterization of <i>RUNX1</i> Germline Variants in Myeloid Neoplasms.

ABSTRACT: Current estimates suggest that up to 10% of patients with myeloid neoplasms (MN) harbor variants associated with a germline predisposition. A pathogenic variant in the runt-related transcription factor 1 gene (RUNX1) is a frequent cause of germline predisposition to MN. RUNX1 variants detected in tumor tissue at a VAF close to 50% are potentially germline and causative of RUNX1 familial platelet disorder with associated myeloid malignancies. Previous studies have found germline RUNX1 variants in 3% of patients with acute myeloid leukemia; however, the frequency of germline RUNX1 variants in less advanced myeloid neoplasms has not been examined. We screened 590 patients suspected of MN, excluding myeloproliferative neoplasms, for germline variants in RU

SUBMITTER: Nitschke NJ 

PROVIDER: S-EPMC11919008 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature