Revista de Medicina de Laboratorio 00039 / http://dx.doi.org/10.20960/revmedlab.00039

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Revisiones - Metaanálisis

Utilidad de los algoritmos de priorización de variantes con significado clínico desconocido en el síndrome de cáncer de mama y ovario hereditario

Verónica Castillo Guardiola, M.ª Desamparados Sarabia Meseguer, Laura Rosado Jiménez, Miguel Marín Vera, José Antonio Macías Cerrolaza, Encarnación Cuevas Tortosa, Francisco Ruiz Espejo, José Antonio Noguera Velasco

Prepublicado: 2021-03-08

Publicado: 2021-04-28

VOLUMEN 2, NÚM. 1, enero-abril (2021), PAG. 21-29

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La aparición de la secuenciación de nueva generación ha supuesto una revolución en el estudio genético del síndrome de cáncer de mama y ovario hereditario (SCMOH), ya que ha permitido la incorporación a la práctica clínica de paneles de genes, o incluso de exomas y genomas completos. El gran aumento de la información que se obtiene de un estudio genético ha ido unido a un incremento de la incertidumbre debido al mayor número de variantes con significado desconocido (VUS) halladas. En consecuencia, recientemente se ha acuñado el concepto de VUS priorizada, que hace referencia a aquellas variantes con significado clínico desconocido que, según la bibliografía disponible, presentan un mayor riesgo de ser deletéreas. En esta revisión se pretende mostrar la evolución de las guías de clasificación clínica de variantes, destacar la necesidad del desarrollo de algoritmos de priorización para seleccionar estas VUS priorizadas que permitan optimizar la realización de estudios complementarios, así como advertir de la importancia de realizar un correcto proceso de asesoramiento genético que haga entender al paciente las posibles consecuencias de dicho análisis.

Palabras Clave: Síndrome de cáncer de mama y ovario hereditario. Priorización. Variante con significado clínico desconocido.

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Bibliografía
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Publicado: 2020-04-22 / http://dx.doi.org/10.20960/revmedlab.00024

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