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Ulrike Faust

As seen in: Nature
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Evaluation of non-canonical p53 functions in DNA replication and recombination for variant classification - Cell Death & Disease

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By Helmut Pospiech, Christian Sutter, Wolfgang Janni, Rita K. Schmutzler, Jan Hauke, Andreas C. Joerger, Lisa Wiesmüller, Rebecca Jansche, Benedikt Heitmeir, Ulrike Faust, Christian Albig, Finja Hennig
| Nature Verified
Abstract Pathogenic germline TP53 variants predispose to diverse Li-Fraumeni syndrome (LFS) phenotypes and a broad cancer spectrum, whereby carriers of hypomorphic variants cluster in a cohort with attenuated disease onset and an overrepresentation of breast cancer (BC). Recently, functional assays have gained importance among the criteria used to predict the pathogenicity of hereditary breast and ovarian cancer (HBOC) risk-gene variants.
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