Genomic profiling reveals the variant landscape of sporadic parathyroid adenomas in Chinese population.

Our study expanded the pathogenic variant spectrum of PA, and indicated that KMT2D might be a novel candidate driver gene and to be considered as a diagnostic biomarker for PA. Meanwhile, CDC73 mutations might be an early developmental event from PA to PC. The results provided insights into elucidating the pathogenesis of parathyroid tumorigenesis and a certain basis for clinical diagnosis and treatment.