Article
Functional Analysis Identifies Damaging CHEK2 Missense Variants Associated with Increased Cancer Risk.
Cancer research - 15 Feb 2022
Boonen Rick A C M, Wiegant Wouter W, Celosse Nandi, Vroling Bas, Heijl Stephan, Kote-Jarai Zsofia, Mijuskovic Martina, Cristea Simona, Solleveld-Westerink Nienke, van Wezel Tom, Beerenwinkel Niko, Eeles Rosalind, Devilee Peter, Vreeswijk Maaike P G, Marra Giancarlo, van Attikum Haico
Abstract excerpt
Heterozygous carriers of germline loss-of-function variants in the tumor suppressor gene checkpoint kinase 2 (CHEK2) are at an increased risk for developing breast and other cancers. While truncating variants in CHEK2 are known to be pathogenic, the interpretation of missense variants of uncertain significance (VUS) is challenging. Consequently, many VUS remain unclassified both functionally and clinically. Here...
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