Eva Tornero

Barcelona, CT 08908, Spain

Last Updated: 09/26/2026

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Found 15 publications

TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.

TP53 germline testing and hereditary cancer: how somatic events and clinical criteria affect variant detection rate.

Journal: Genome medicine

Published: August 13, 2024

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines.

Journal: Bioinformatics (Oxford, England)

Published: November 07, 2022

Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.

Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients.

Journal: Human mutation

Published: May 22, 2020

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.

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.

Journal: The Journal of molecular diagnostics : JMD

Published: May 03, 2020

Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia.

Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia.

Journal: Breast cancer research : BCR

Published: April 01, 2020

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.

Journal: Human mutation

Published: January 30, 2019

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

Does multilocus inherited neoplasia alleles syndrome have severe clinical expression?

Journal: Journal of medical genetics

Published: September 03, 2018

Tumor xenograft modeling identifies an association between TCF4 loss and breast cancer chemoresistance.

Tumor xenograft modeling identifies an association between TCF4 loss and breast cancer chemoresistance.

Journal: Disease models & mechanisms

Published: September 29, 2017

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.

A comprehensive custom panel design for routine hereditary cancer testing: preserving control, improving diagnostics and revealing a complex variation landscape.

Journal: Scientific reports

Published: May 31, 2016

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Journal: Scientific reports

Published: May 31, 2016

Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA.

Investigating the effect of 28 BRCA1 and BRCA2 mutations on their related transcribed mRNA.

Journal: Breast cancer research and treatment

Published: October 08, 2015

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.

Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers.

Journal: PloS one

Published: June 25, 2014

Showing 1-12 of 15

Last Updated: 09/26/2026