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.

doi:10.1007/s10689-017-9985-x

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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.

Familial cancer - 1 Oct 2017

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

Abstract excerpt

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 Genetic Counselling Units from this area over 6 years. Diagnostic performance was 18.1% and 194 different genetic variants were obtained. Variants with uncertain significance accounted for only 5.6% of the total number of reports, so our population has been...

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PMID: 28477318
DOI: 10.1007/s10689-017-9985-x

Genes

BRCA1
BRCA2

Variants

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