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Missense but mis-spliced: germline TP53 variant c.671A > C (p.E224A) and the path from uncertainty to pathogenicity

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By Irena Velkova, Serena Cappato, Daniela Rivera, Ferruccio Romano, Renata Bocciardi, Anna Reymer, Pierre Hainaut, Patrizia De Marco, Viviana Gismondi, Gabriella Cirmena, Marzia Ognibene, Alberto Garaventa, Carla Manzitti, Yari Ciribilli, Alessandra Bisio, Elisa Marcaccini, Francesca Faravelli, Paola Menichini, Valeria Capra, Paola Monti, Deborah Schönneger, Ludovica Menta, Samuele Brugnara, Paolo Malatesta
| Nature Verified
Abstract The TP53 gene encodes the well-known p53 tumor suppressor protein, which plays a crucial role in preventing cancer development. Germline TP53 variants cause Li–Fraumeni Syndrome (LFS), an autosomal dominant disorder associated with early-onset cancers, including breast cancer, brain tumors, leukemias, bone cancers, and soft tissue sarcomas.
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