Revista de Medicina de Laboratorio 00024 / http://dx.doi.org/10.20960/revmedlab.00024

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RAD51C y RAD51D en el síndrome de cáncer de mama y ovario hereditario

Ana Isabel Sánchez Bermúdez, M.ª Desamparados Sarabia Meseguer, Verónica Castillo Guardiola, Francisco Ruiz Espejo, José Antonio Noguera Velasco

Prepublicado: 2020-12-29

Publicado: 2020-12-29

VOLUMEN 1, NÚM. 3, septiembre-diciembre (2020), PAG. 108-119

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El riesgo de cáncer de mama se duplica en parientes de primer grado de mujeres con cáncer de mama, mientras que el de cáncer de ovario se triplica con parientes afectas de esta enfermedad comparadas con mujeres sin antecedentes familiares. El síndrome más frecuente de predisposición hereditaria para estos tipos de cáncer es el síndrome de cáncer de mama y ovario hereditario. Este síndrome está relacionado principalmente con alteraciones germinales en los genes BRCA1 (breast cancer 1) y BRCA2 (breast cancer 2), pero el estudio de otros genes de susceptibilidad es actualmente un campo muy activo. Este trabajo se centra en la implicación de los genes RAD51C y RAD51D en el síndrome de cáncer de mama y ovario hereditario. El objetivo es conocer la relación molecular de estos genes con BRCA1 y BRCA2 mediante el mecanismo de recombinación homóloga y realizar análisis de prevalencia mutacional de RAD51C y RAD51D en trabajos publicados hasta ahora con el fin de aportar información sobre la relación genotipo-fenotipo dentro de las familias con síndrome de cáncer de mama y ovario hereditario. La prevalencia mutacional encontrada en RAD51C y RAD51D oscila entre 0 % y 2,9 % y entre 0,2 % y 2,1 %, respectivamente, variando notablemente en función de la población a estudio y el fenotipo familiar. La mayor prevalencia mutacional en ambos genes se encontró en familias en las que coexistían ambos tumores.

Palabras Clave: RAD51C. RAD51D. Síndrome de cáncer de mama y ovario hereditario. Recombinación homóloga.

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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

Publicado: 2020-07-31 / http://dx.doi.org/10.20960/revmedlab.00039

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