Article
Germline variant affecting p53β isoforms predisposes to familial cancer.
Nature communications - 18 Sept 2024
Schubert Stephanie A, Ruano Dina, Joruiz Sebastien M, Stroosma Jordy, Glavak Nikolina, Montali Anna, Pinto Lia M, Rodríguez-Girondo Mar, Barge-Schaapveld Daniela Q C M, Nielsen Maartje, van Nesselrooij Bernadette P M, Mensenkamp Arjen R, van Leerdam Monique E, Sharp Thomas H, Morreau Hans, Bourdon Jean-Christophe, de Miranda Noel F C C, van Wezel Tom
Abstract excerpt
Germline and somatic TP53 variants play a crucial role during tumorigenesis. However, genetic variations that solely affect the alternatively spliced p53 isoforms, p53β and p53γ, are not fully considered in the molecular diagnosis of Li-Fraumeni syndrome and cancer. In our search for additional cancer predisposing variants, we identify a heterozygous stop-lost variant affecting the p53β isoforms (p.*342Serext*17)...
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