Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.

Rick A C M BoonenWouter W WiegantNandi CelosseBas VrolingStephan HeijlZsofia Kote-JaraiMartina MijuskovicSimona CristeaNienke Solleveld-WesterinkJ Tom van WezelNiko BeerenwinkelRosalind A Eeles Peter Devilee Maaike P G Vreeswijk Giancarlo Marra Haico van Attikum

Published in: Cancer research (2022)

Quantitative assessment of the functional consequences of CHEK2 variants of uncertain significance identifies damaging variants associated with increased cancer risk, which may aid in the clinical management of patients and carriers.

Keyphrases

copy number
genome wide
gene expression