We present a site‑saturation functional screens of missense variants in the high-risk breast cancer susceptibility gene PALB2. Damaging missense variants confer a high risk of breast cancer! Thanks to all co-authors and to KWF for financially supporting our work!
www.nature.com/articles/s41...
nature.com
Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk - Nature Communications
The impact of variants of uncertain significance (VUS) on protein function and cancer risk remain unclear. Here, the authors focus on the functional impact of VUS of the PALB2 gene and identify defect...
