Understanding exceptional response: The role of MINDY1 SNP in CDK4/6 inhibitor therapy for ER⁺, HER2^- advanced breast cancer.

ABSTRACT: Exceptional responders to targeted cancer therapies offer a unique opportunity to uncover molecular determinants of drug sensitivity. In this study, we aimed to identify genomic alterations associated with exceptional response to cyclin-dependent kinase inhibitors (CDKi) combined with endocrine therapy in individuals with estrogen receptor (ER)-positive, human epidermal growth factor receptor 2 (HER2)-negative advanced breast cancer. Sixteen people who achieved prolonged complete or partial responses were retrospectively analyzed using whole-exome sequencing. Among these, six individuals provided high-quality tumor and matched normal blood samples suitable for downstream variant analysis. This cohort exhibited a diverse landscape of germline, somatic, and loss of heterozygosity variants, s

SUBMITTER: Balla E 

PROVIDER: S-EPMC12818251 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature