Functional characterization of 84 PALB2 variants of uncertain significance.

Timothy WiltshireMandy DucyTzeh Keong FooChunling HuKun Y LeeAnil Belur NagarajAmélie RodrigueThiago T GomesJacques SimardAlvaro N A MonteiroBing XiaMarcelo A CarvalhoJean-Yves MassonFergus J Couch

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2019)

These findings show that the HDR assay is an effective method for screening the influence of inherited variants on PALB2 function, that four missense variants impact PALB2 function and may influence cancer risk and response to therapy, and suggest that few inherited PALB2 missense variants disrupt PALB2 function in DNA repair.

Keyphrases

dna repair
copy number
dna damage
intellectual disability
high throughput
gene expression
stem cells
oxidative stress
dna damage response
mesenchymal stem cells