Clinical trio genome sequencing facilitates the interpretation of variants in cancer predisposition genes in paediatric tumour patients

The prevalence of pathogenic and likely pathogenic (P/LP) variants in genes associated with cancer predisposition syndromes (CPS) is estimated to be 8-18% for paediatric cancer patients. In more than half of the carriers, the family history is unsuspicious for CPS. Therefore, broad genetic testing c...

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Detalles Bibliográficos
Autores principales: Schroeder, Christopher, Faust, Ulrike, Krauße, Luisa, Liebmann, Alexandra, Abele, Michael, Demidov, German, Schütz, Leon, Kelemen, Olga, Pohle, Alexandra, Gauß, Silja, Sturm, Marc, Roggia, Cristiana, Streiter, Monika, Buchert, Rebecca, Armenau-Ebinger, Sorin, Nann, Dominik, Beschorner, Rudi, Handgretinger, Rupert, Ebinger, Martin, Lang, Peter, Holzer, Ursula, Skokowa, Julia, Ossowski, Stephan, Haack, Tobias B., Mau-Holzmann, Ulrike A., Dufke, Andreas, Riess, Olaf, Brecht, Ines B.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545765/
https://www.ncbi.nlm.nih.gov/pubmed/37507557
http://dx.doi.org/10.1038/s41431-023-01423-8

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