Author

J. Balmaña

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Open access Jul 2026

Impact of BRCA2 pathogenic variants on outcomes to first-line CDK4/6 inhibitors plus endocrine therapy in HR-positive/HER2-negative metastatic breast cancer

BRCA2 PVs were independently associated with poorer outcomes to first-line CDK4/6i plus ET in HR-positive/HER2-negative MBC compared with controls, especially relevant among patients with endocrine-sensitive disease.

M. Cruellas, A. Rodriguez-Hernandez, L. Carità et al. · ESMO Open · 0 citations

Aug 2026

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.

The Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) research consortium conducted a comprehensive study to characterize spliceogenic variants in BRCA1 exon 18, indicating the degree of splice perturbation required to impair BRCA1 function may depend on the nature of the resulting non-f...

Joanna Domènech-Vivó, Hélène Tubeuf, Romy L. S. Mesman et al. · American Journal of Human Ge... · 0 citations