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

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 s...

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Detalles Bibliográficos
Autores principales: 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
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Association for Cancer Research 2022
Materias:
Molecular Cell Biology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9359737/
https://www.ncbi.nlm.nih.gov/pubmed/34903604
http://dx.doi.org/10.1158/0008-5472.CAN-21-1845

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