Author

E. Macháčková

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Review Open access Aug 2026

Polygenic risk score and its role in cancer susceptibility.

This review summarizes the principles of PRS, the main sources of variability between models, and its potential applications in risk stratification and personalized cancer screening and addresses limitations in transferability, the need for calibration, and the currently limited evidence for improvements in hard clinic...

Adéla Mišove, E. Macháčková, Klára Nováková et al. · Klinicka onkologie · 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