Genetic, structural, and functional characterization of POLE polymerase proofreading variants allows cancer risk prediction.

Nadim HamzaouiFlora AlarconNicolas LeulliotRosine GuimbaudBruno BuecherChrystelle ColasCarole CorsiniGregory NuelBenoît TerrisPierre Laurent-PuigStanislas ChaussadeMarion DhoogeClément MadruEric Clauser

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

The risk estimates derived from this study provide a rational basis on which to provide genetic counseling to POLE variant carriers.

Keyphrases

copy number
genome wide
papillary thyroid
squamous cell
dna methylation
gene expression
young adults
childhood cancer
hiv testing