Autor: Andersson, A. N., Byrjalsen, A., Tuxen, I. E. V., Andersen, M. K., Hansen, T. v. O., Wadt, K. A. W.
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Interpreting TP53 variants: somatic mosaicism and ERCC6L2-driven clonal evolution
We present two illustrative cases highlighting diagnostic, surveillance and management complexities of TP53 pathogenic variants (PVs). Case 1 describes a 24-year-old female with early-onset breast cancer and a somatic mosaic TP53 PV with a variant alle…
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Interpreting TP53 variants: somatic mosaicism and ERCC6L2-driven clonal evolution
We present two illustrative cases highlighting diagnostic, surveillance and management complexities of TP53 pathogenic variants (PVs). Case 1 describes a 24-year-old female with early-onset breast cancer and a somatic mosaic TP53 PV with a variant alle…