A quantitative model to predict pathogenicity of missense variants in the TP53 gene

Germline pathogenic variants in the TP53 gene cause Li‐Fraumeni syndrome, a condition that predisposes individuals to a wide range of cancer types. Identification of individuals carrying a TP53 pathogenic variant is linked to clinical management decisions, such as the avoidance of radiotherapy and u...

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Veröffentlicht in:	Human mutation Jg. 40; H. 6; S. 788 - 800
Hauptverfasser:	Fortuno, Cristina, Cipponi, Arcadi, Ballinger, Mandy L., Tavtigian, Sean V., Olivier, Magali, Ruparel, Vatsal, Haupt, Ygal, Haupt, Sue, Study, International Sarcoma Kindred, Tucker, Kathy, Spurdle, Amanda B., Thomas, David M., James, Paul A.
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	United States John Wiley & Sons, Inc 01.06.2019
Schlagworte:	Algorithms Computational Biology - methods Computer Simulation Genetic Predisposition to Disease Humans Li-Fraumeni Syndrome - genetics Li‐Fraumeni syndrome Models, Genetic Mutation, Missense p53 Protein Pathogenicity quantitative Radiation therapy TP53 Tumor Suppressor Protein p53 - genetics variant classification variant classification TP53 quantitative Li-Fraumeni syndrome
ISSN:	1059-7794, 1098-1004, 1098-1004
Online-Zugang:	Volltext
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