Carolina Gomez

Av. Gran Via 199-203
L'hospitalet De Llobregat, CT 08908, Spain

Last Updated: 09/26/2026

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Found 13 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

Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.

Splicing analyses for variants in MMR genes: best practice recommendations from the European Mismatch Repair Working Group.

Journal: European journal of human genetics : EJHG

Published: September 25, 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

Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis.

Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis.

Journal: The Journal of molecular diagnostics : JMD

Published: May 03, 2021

ERCC3, a new ovarian cancer susceptibility gene?

ERCC3, a new ovarian cancer susceptibility gene?

Journal: European journal of cancer (Oxford, England : 1990)

Published: July 31, 2020

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.

Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.

Journal: Cancers

Published: May 04, 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

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

Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

Elucidating the molecular basis of MSH2-deficient tumors by combined germline and somatic analysis.

Journal: International journal of cancer

Published: December 07, 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

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.

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.

Journal: Human mutation

Published: August 26, 2013

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.

Next-generation sequencing meets genetic diagnostics: development of a comprehensive workflow for the analysis of BRCA1 and BRCA2 genes.

Journal: European journal of human genetics : EJHG

Published: July 09, 2012

Showing 1-12 of 13

Last Updated: 09/26/2026