A new missense mutation c.1240A & gt;G in fumarate hydratase gene leads to uterine leiomyoma associated hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome in Chinese

CONCLUSION: This research adds a novel missense mutation to the repertoire of FH gene variants, emphasizing its likely pathogenic nature based on a multidimensional analysis of phenotype, family history, and literature evidence. The findings enhance our understanding of the genetic landscape associated with FH and underscore the importance of thorough characterization for accurate variant classification.PMID:38663218 | DOI:10.1016/j.tranon.2024.101963
Source: Translational Oncology - Category: Cancer & Oncology Authors: Source Type: research