Article
Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk.
Nature communications - 19 Jan 2026
Boonen Rick A C M, Knaup Sabine C, Menafra Roberta, Braspenning Merel E, Rother Magdalena B, Kleiblova Petra, Janatova Marketa, Ruano Dina, Hu Chunling, Huang Huaizhi, Joseph Vijai, Conry Michael, Heijl Stephan, Vroling Bas, Goeman Jelle J, Varga Matthew, Richardson Marcy E, Kloet Susan L, Couch Fergus J, Vreeswijk Maaike P G, van Attikum Haico
Abstract excerpt
Loss-of-function variants in PALB2 give rise to defects in DNA damage repair by homologous recombination (HR), increasing the risk of breast cancer in female carriers. However, genetic testing frequently reveals missense variants of uncertain significance (VUS) for which the impact on protein function and cancer risk are unclear. Here we assay 84% of all possible missense variants in 11 out of 13 PALB2 exons...
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