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 1
- M.ª Desamparados Sarabia Meseguer 2
- Laura Rosado Jiménez 2
- Miguel Marín Vera 3
- José Antonio Macías Cerrolaza 4
- Encarnación Cuevas Tortosa 3
- Francisco Ruiz Espejo 2
- José Antonio Noguera Velasco 2
- 1 1Laboratorio de Genómica. Servicio de Análisis Clínicos. Hospital Clínico Universitario Virgen de la Arrixaca. Murcia.
- 2 Laboratorio de Genómica. Servicio de Análisis Clínicos. Hospital Clínico Universitario Virgen de la Arrixaca. Murcia.
- 3 Servicio de Oncología Médica. Hospital Clínico Universitario Virgen de la Arrixaca. Murcia.
- 4 Servicio de Oncología Médica. Hospital General Universitario Morales Meseguer. Murcia
ISSN: 2660-7484, 2660-7638
Argitalpen urtea: 2021
Alea: 2
Zenbakia: 1
Orrialdeak: 21-29
Mota: Artikulua
Beste argitalpen batzuk: Revista de Medicina de Laboratorio
Laburpena
The incorporation of next-generation sequencing has been a revolution in the genetic study of hereditary breast and ovarian cancer (HBOC), as it has allowed the incorporation in clinical practice of multigene panel testing and even complete exomes and genomes. It has led an increase of information obtained in genetic studies. However, it has been accompanied by an uncertainty raise due to the higher number of variants with unknown significance (VUS) found. Consequently, the term prioritized VUS that refers to those variants with unknown significance that has a greater risk of being deleterious has been coined. This revision pretends to show the evolving of classification guidelines for the interpretation of variants, emphasize the importance of the development of prioritization algorithms that select prioritize and allows optimizing the complementary studies employed, as well as emphasize la importance of a correct genetic counselling that helps the patient understand the consequences of the analysis.