Search Results - "Macías Cerrolaza, José Antonio"

Variantes genéticas recurrentes y priorización de variantes de significado clínico desconocido asociadas al síndrome de cáncer de mama y ovario hereditario en familias de la Región de Murcia by Rosado-Jiménez, Laura, Mestre-Terkemani, Younes, García-Aliaga, Ángeles, Marín-Vera, Miguel, Macías-Cerrolaza, José Antonio, Sarabia-Meseguer, María Desamparados, García-Hernández, María Rosario, Zafra-Poves, Marta, Sánchez-Henarejos, Pilar, Ayala de la Peña, Francisco, Alonso-Romero, José Luis, Noguera-Velasco, José Antonio, Ruiz-Espejo, Francisco

“…El síndrome de cáncer de mama y ovario hereditario (SCMOH) presenta un patrón de herencia autosómica dominante en genes de susceptibilidad al cáncer y su…”
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Recurrent genetic variants and prioritization of variants of uncertain clinical significance associated with hereditary breast and ovarian cancer in families from the Region of Murcia by Rosado-Jiménez, Laura, Mestre-Terkemani, Younes, García-Aliaga, Ángeles, Marín-Vera, Miguel, Macías-Cerrolaza, José Antonio, Sarabia-Meseguer, María Desamparados, García-Hernández, María Rosario, Zafra-Poves, Marta, Sánchez-Henarejos, Pilar, Ayala de la Peña, Francisco, Alonso-Romero, José Luis, Noguera-Velasco, José Antonio, Ruiz-Espejo, Francisco

“…Hereditary breast and ovarian cancer (HBOC) follows an autosomal dominant inheritance pattern of cancer susceptibility genes. The risk of developing this…”
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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 by Castillo-Guardiola, Verónica, Rosado-Jiménez, Laura, Sarabia-Meseguer, María Desamparados, Marín-Vera, Miguel, Macías-Cerrolaza, José Antonio, García-Hernández, Rosario, Zafra-Poves, Marta, Sánchez-Henarejos, Pilar, Moreno-Locubiche, María Ángeles, Cuevas-Tortosa, Encarnación, Arnaldos-Carrillo, María, Ayala de la Peña, Francisco, Alonso-Romero, José Luis, Noguera-Velasco, José Antonio, Ruiz-Espejo, Francisco

“…BRCA1 and BRCA2 are the two main genes causing hereditary breast and ovarian cancer (HBOC). However, thanks to the development of Next Generation Sequencing…”
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Mutational analysis of RAD51C and RAD51D genes in hereditary breast and ovarian cancer families from Murcia (southeastern Spain) by Sánchez-Bermúdez, Ana Isabel, Sarabia-Meseguer, Ma Desamparados, García-Aliaga, Ángeles, Marín-Vera, Miguel, Macías-Cerrolaza, José Antonio, Henaréjos, Pilar Sánchez, Guardiola-Castillo, Verónica, Peña, Francisco Ayala-de la, Alonso-Romero, José Luis, Noguera-Velasco, José Antonio, Ruiz-Espejo, Francisco

“…RAD51C and RAD51D have been defined as susceptibility genes for hereditary breast and ovarian cancer syndrome in several studies. In the present study, a…”
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Molecular characterization and clinical interpretation of BRCA1/BRCA2 variants in families from Murcia (south-eastern Spain) with hereditary breast and ovarian cancer: clinical–pathological features in BRCA carriers and non-carriers by Gabaldó Barrios, Xavier, Sarabia Meseguer, Mª Desamparados, Marín Vera, Miguel, Sánchez Bermúdez, Ana Isabel, Macías Cerrolaza, José Antonio, Sánchez Henarejos, Pilar, Zafra Poves, Marta, García Hernández, Mª Rosario, Cuevas Tortosa, Encarna, Aliaga Baño, Ángeles, Castillo Guardiola, Verónica, Martínez Hernández, Pedro, Tovar Zapata, Isabel, Martínez Barba, Enrique, Ayala de la Peña, Francisco, Alonso Romero, José Luis, Noguera Velasco, José Antonio, Ruiz Espejo, Francisco

“…This is the first study performed in Murcia (south-eastern Spain) in which 592 families with hereditary breast and ovarian cancer were identified thanks to…”
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