Jasmina Bojadzieva

The paper introduces Famdenovo, a model to predict de novo mutations in families with Li-Fraumeni syndrome, identifying 40 new carriers and showing high prediction accuracy.

The paper estimates penetrance for first and second primary cancer diagnoses in Li-Fraumeni syndrome families and validates a risk prediction model with an AUC of 0.77.

The paper estimates cancer-specific penetrance in Li-Fraumeni syndrome using a statistical model and validates it across multiple cohorts, showing age-dependent risk patterns for different cancer types.