Next step in molecular genetics of hereditary breast/ovarian cancer: Multigene panel testing in clinical actionably genes and prioritization algorithms in the study of variants of uncertain significance

Verónica Castillo-Guardiola,Laura Rosado-Jiménez,María Desamparados Sarabia-Meseguer,Miguel Marín-Vera,José Antonio Macías-Cerrolaza, Rosario García-Hernández,Marta Zafra-Poves,Pilar Sánchez-Henarejos, María Ángeles Moreno-Locubiche, Encarnación Cuevas-Tortosa,María Arnaldos-Carrillo,Francisco Ayala de la Peña,José Luis Alonso-Romero,José Antonio Noguera-Velasco,Francisco Ruiz-Espejo

European Journal of Medical Genetics（2022）

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摘要

•The implementation of a multigene panel in HBOC families improved the diagnostic yield.•The introduction of actionability is essential for the management of HBOC families.•A prioritization algorithm is needed to select variants in which further studies are needed.•The prioritization algorithm allowed the reduction of VUS carrier families from 51% to 19%.

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关键词

HBOC,Multigene panel testing,Prioritization algorithm,Clinical actionability

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