Danielle Braun

This paper performs a meta-analysis of breast cancer risk associated with PALB2 pathogenic variants, finding an overall risk of 12.80% by age 50 and 48.47% by age 80.

The paper extends Mendelian risk prediction models to incorporate variant-specific penetrances, improving cancer risk predictions for BRCA1/2 pathogenic variants.

The paper evaluates the disease spectrum of breast cancer susceptibility genes by analyzing multiple genetic resources and confirms gene-disease associations.

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.