Site-saturation functional screens identify PALB2 missense variants associated with increased breast cancer risk
Rick A.C.M. Boonen, Sabine Knaup, Roberta Menafra, Merel E. Braspenning et autres
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 …
nl, cz, us (code pays fourni par la source)
0 citations
Nature Communications