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

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 multiplex o...

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Detalles Bibliográficos
Autores principales: Butz, Henriett, Bozsik, Anikó, Grolmusz, Vince, Szőcs, Erika, Papp, János, Patócs, Attila
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10471726/
https://www.ncbi.nlm.nih.gov/pubmed/37653074
http://dx.doi.org/10.1038/s41598-023-41481-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10471726/
https://www.ncbi.nlm.nih.gov/pubmed/37653074
http://dx.doi.org/10.1038/s41598-023-41481-y

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