Publications by authors named "Eva Tornero"

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TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.
Paula Rofes, Carmen Castillo-Manzano, Mireia Menéndez, Álex Teulé, Sílvia Iglesias, Eva Tornero

Genome Med· January 2025

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vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.
Elisabet Munté, Lidia Feliubadaló, Marta Pineda, Eva Tornero, Maribel Gonzalez

Bioinformatics· March 2023

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Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.
Gardenia Vargas-Parra, Jesús Del Valle, Paula Rofes, Mireia Gausachs, Agostina Stradella, Eva Tornero

Hum Mutat· December 2020

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Improving Genetic Testing in Hereditary Cancer by RNA Analysis: Tools to Prioritize Splicing Studies and Challenges in Applying American College of Medical Genetics and Genomics Guidelines.
Paula Rofes, Mireia Menéndez, Sara González, Eva Tornero, Carolina Gómez

J Mol Diagn· December 2020

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Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia.
Anna Marie De Asis Tuazon, Paul Lott, Mabel Bohórquez, Jennyfer Benavides, Carolina Ramirez, Eva Tornero

Breast Cancer Res· October 2020

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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Michael T Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Eva Tornero

Hum Mutat· September 2019

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Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?
Agostina Stradella, Jesús Del Valle, Paula Rofes, Lídia Feliubadaló, Èlia Grau Garces, Eva Tornero

J Med Genet· August 2019

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Tumor xenograft modeling identifies an association between TCF4 loss and breast cancer chemoresistance.
Gorka Ruiz de Garibay, Francesca Mateo, Agostina Stradella, Rafael Valdés-Mas, Luis Palomero, Eva Tornero

Dis Model Mech· May 2018

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Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.
Lídia Feliubadaló, Raúl Tonda, Mireia Gausachs, Jean-Rémi Trotta, Elisabeth Castellanos, Eva Tornero

Sci Rep· January 2017

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A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.
Elisabeth Castellanos, Bernat Gel, Inma Rosas, Eva Tornero, Sheila Santín

Sci Rep· January 2017

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Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA.
Francisco Quiles, Mireia Menéndez, Eva Tornero, Jesús del Valle, Àlex Teulé

Breast Cancer Res Treat· January 2016

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Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.
Ignacio Blanco, Karoline Kuchenbaecker, Daniel Cuadras, Xianshu Wang, Daniel Barrowdale, Eva Tornero

PLoS One· December 2015

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ICO amplicon NGS data analysis: a Web tool for variant detection in common high-risk hereditary cancer genes analyzed by amplicon GS Junior next-generation sequencing.
Adriana Lopez-Doriga, Lídia Feliubadaló, Mireia Menéndez, Sergio Lopez-Doriga, Francisco D Morón-Duran, Eva Tornero

Hum Mutat· March 2014

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Functional and structural analysis of C-terminal BRCA1 missense variants.
Francisco Quiles, Juana Fernández-Rodríguez, Roberto Mosca, Lídia Feliubadaló, Eva Tornero

PLoS One· November 2013

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Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.
Lídia Feliubadaló, Adriana Lopez-Doriga, Ester Castellsagué, Jesús del Valle, Mireia Menéndez, Eva Tornero

Eur J Hum Genet· August 2013

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Assessing the RNA effect of 26 DNA variants in the BRCA1 and BRCA2 genes.
Mireia Menéndez, Joan Castellsagué, Marc Mirete, Eva Pros, Lídia Feliubadaló, Eva Tornero

Breast Cancer Res Treat· April 2012

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Characterization of BRCA1 and BRCA2 splicing variants: a collaborative report by ENIGMA consortium members.
Mads Thomassen, Ana Blanco, Marco Montagna, Thomas V O Hansen, Inge S Pedersen, Eva Tornero

Breast Cancer Res Treat· April 2012

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Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.
Susan J Ramus, Antonis C Antoniou, Karoline B Kuchenbaecker, Penny Soucy, Jonathan Beesley, Eva Tornero

Hum Mutat· April 2012

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Identification of a new complex rearrangement affecting exon 20 of BRCA1.
Jesús Del Valle, Olga Campos, Angela Velasco, Esther Darder, Mireia Menéndez, Eva Tornero

Breast Cancer Res Treat· November 2011

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Identification and comprehensive characterization of large genomic rearrangements in the BRCA1 and BRCA2 genes.
Jesús del Valle, Lídia Feliubadaló, Marga Nadal, Alex Teulé, Rosa Miró, Eva Tornero

Breast Cancer Res Treat· August 2010

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