Mireia Menendez

Barcelona, CT, Spain

Last Updated: 09/26/2026

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Found 18 publications

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.

Journal: American journal of human genetics

Published: February 19, 2026

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

Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.

Cancer Risks Associated With TP53 Pathogenic Variants: Maximum Likelihood Analysis of Extended Pedigrees for Diagnosis of First Cancers Beyond the Li-Fraumeni Syndrome Spectrum.

Journal: JCO precision oncology

Published: February 27, 2024

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.

Clinical, splicing, and functional analysis to classify BRCA2 exon 3 variants: Application of a points-based ACMG/AMP approach.

Journal: Human mutation

Published: November 12, 2021

RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant.

RNA assay identifies a previous misclassification of BARD1 c.1977A>G variant.

Journal: Scientific reports

Published: September 22, 2021

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

High Prevalence of Somatic Oncogenic Driver Alterations in Patients With NSCLC and Li-Fraumeni Syndrome.

High Prevalence of Somatic Oncogenic Driver Alterations in Patients With NSCLC and Li-Fraumeni Syndrome.

Journal: Journal of thoracic oncology : official publication of the International Association for the Study of Lung Cancer

Published: December 28, 2019

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Computational Tools for Splicing Defect Prediction in Breast/Ovarian Cancer Genes: How Efficient Are They at Predicting RNA Alterations?

Journal: Frontiers in genetics

Published: May 23, 2018

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

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

Comprehensive annotation of splice junctions supports pervasive alternative splicing at the BRCA1 locus: a report from the ENIGMA consortium.

Journal: Human molecular genetics

Published: February 27, 2014

Showing 1-12 of 18

Last Updated: 09/26/2026