Distinct and convergent effects of <i>SF3B1</i> mutations in human breast cancer.

ABSTRACT: Tumor genomic profiling has uncovered many cancer drivers whose implications in terms of tumor biology and therapeutic actionability remain understudied. Hotspot mutations in SF3B1 induce widespread transcriptomic alterations and occur across multiple cancer types. Despite this, the biological and clinical consequences of SF3B1 mutations remain elusive. Characterization of the largest SF3B1 mutant breast cancer clinical cohort to date identifies SF3B1 driver mutations in approximately 2.5% of HR+ HER2- breast cancer, with strong enrichment of K700E substitutions, substantial variation in variant allele fraction (VAF), and significantly improved overall survival due to enrichment in Luminal A disease. In vitro and in vivo studies in representative cell models sug

SUBMITTER: Bergman RE 

PROVIDER: S-EPMC12541443 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature