A calibrated cell-based functional assay to aide classification of MLH1 DNA mismatch repair gene variants
A. Rath, A. A. Radecki, K. Rahman, R. B. Gilmore, J. R. Hudson, M. Cenci, S. V. Tavtigian, J. P. Grady, C. D. Heinen
The paper develops a CRISPR-based functional assay to classify MLH1 gene variants by testing their impact on protein function and DNA damage response, generating pathogenicity scores for variants of uncertain significance.
bioRxiv · Dec 14, 2021Cancer Biology