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Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS).

Marta Ramirez-CalvoZaida García-CasadoAntonio Fernández-SerraInmaculada de JuanSarai PalancaSilvestre OltraJosé Luis SotoAdela CastillejoVíctor M BarberaMa José Juan-FitaÁngel SeguraIsabel ChirivellaAna Beatriz SánchezIsabel TenaCarolina ChaparroDolores SalasJosé Antonio López-Guerrero
Published in: Hereditary cancer in clinical practice (2019)
Overall, our findings reclassify several index cases into different HCS, and change the mutational status of 14 cases from non-informative to gene mutation carriers. In conclusion, we highlight the necessity of incorporating validated multi-gene NGS panels into the HCSs diagnostic routine to increase the performance of genetic diagnosis.
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