Challenging interpretation of germline TP53 variants based on the experience of a national comprehensive cancer centre

Abstract TP53 variant interpretation is still challenging, especially in patients with attenuated Li–Fraumeni syndrome (LFS). We investigated the prevalence of pathogenic/likely pathogenic (P/LP) variants and LFS disease in the Hungarian population of cancer patients. By testing 893 patients with mu...

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Main Authors: Henriett Butz, Anikó Bozsik, Vince Grolmusz, Erika Szőcs, János Papp, Attila Patócs
格式: 文件
语言:English
出版: Nature Portfolio 2023-08-01
丛编:Scientific Reports
在线阅读:https://doi.org/10.1038/s41598-023-41481-y