Publications by authors named "Matilde Navarro"

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Tumor analysis of MMR genes in Lynch-like syndrome: Challenges associated with results interpretation.
Paula Rofes, Núria Dueñas, Jesús Del Valle, Matilde Navarro, Judith Balmaña

Cancer Med· April 2024

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Wnt genes in colonic polyposis predisposition.
Isabel Quintana, Mariona Terradas, Pilar Mur, Iris B A W Te Paske, Sophia Peters, Matilde Navarro

Genes Dis· May 2023

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Lessons learnt from the implementation of a colorectal cancer screening programme for lynch syndrome in a tertiary public hospital.
Nuria Dueñas, Matilde Navarro, Xavier Sanjuán, Núria Ruiz, Silvia Iglesias, Silvia Navarro

Cancer Epidemiol· February 2023

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Quality of Colonoscopy Is Associated With Adenoma Detection and Postcolonoscopy Colorectal Cancer Prevention in Lynch Syndrome.
Ariadna Sánchez, Victorine H Roos, Matilde Navarro, Marta Pineda, Berta Caballol

Clin Gastroenterol Hepatol· March 2022

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Potential Involvement of , and in the Genetic Predisposition to Colorectal Cancer.
Isabel Quintana, Pilar Mur, Mariona Terradas, Sandra García-Mulero, Gemma Aiza, Matilde Navarro

Cancers (Basel)· January 2022

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Paired Somatic-Germline Testing of 15 Polyposis and Colorectal Cancer-Predisposing Genes Highlights the Role of APC Mosaicism in de Novo Familial Adenomatous Polyposis.
Paula Rofes, Sara González, Matilde Navarro, José Marcos Moreno-Cabrera, Ares Solanes

J Mol Diagn· November 2021

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Non-Lynch Familial and Early-Onset Colorectal Cancer Explained by Accumulation of Low-Risk Genetic Variants.
Pilar Mur, Nuria Bonifaci, Anna Díez-Villanueva, Elisabet Munté, Maria Henar Alonso, Matilde Navarro

Cancers (Basel)· July 2021

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, a gene for colorectal cancer predisposition in the absence of Li-Fraumeni-associated phenotypes.
Mariona Terradas, Pilar Mur, Sami Belhadj, Emma R Woodward, George J Burghel, Matilde Navarro

Gut· June 2021

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No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in and : A Prospective Lynch Syndrome Database Study.
Mev Dominguez-Valentin, John-Paul Plazzer, Julian R Sampson, Christoph Engel, Stefan Aretz, Matilde Navarro

J Clin Med· June 2021

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Correction: Dueñas et al. Assessing Effectiveness of Colonic and Gynecological Risk Reducing Surgery in Lynch Syndrome Individuals. 2020, , 3419.
Nuria Dueñas, Matilde Navarro, Àlex Teulé, Ares Solanes, Mònica Salinas

Cancers (Basel)· June 2021

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Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Toni T Seppälä, Mev Dominguez-Valentin, Emma J Crosbie, Christoph Engel, Stefan Aretz, Matilde Navarro

Eur J Cancer· May 2021

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Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants: a Prospective Lynch Syndrome Database report.
Mev Dominguez-Valentin, Emma J Crosbie, Christoph Engel, Stefan Aretz, Finlay Macrae, Matilde Navarro

Genet Med· April 2021

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Characteristics of Adrenocortical Carcinoma Associated With Lynch Syndrome.
Marta Domènech, Elia Grau, Ares Solanes, Angel Izquierdo, Jesús Del Valle, Matilde Navarro

J Clin Endocrinol Metab· January 2021

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Role of POLE and POLD1 in familial cancer.
Pilar Mur, Sandra García-Mulero, Jesús Del Valle, Lorena Magraner-Pardo, August Vidal, Matilde Navarro

Genet Med· December 2020

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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, Matilde Navarro

Hum Mutat· December 2020

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Assessing Effectiveness of Colonic and Gynecological Risk Reducing Surgery in Lynch Syndrome Individuals.
Nuria Dueñas, Matilde Navarro, Àlex Teulé, Ares Solanes, Mònica Salinas

Cancers (Basel)· November 2020

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Candidate genes for hereditary colorectal cancer: Mutational screening and systematic review.
Sami Belhadj, Mariona Terradas, Pau M Munoz-Torres, Gemma Aiza, Matilde Navarro

Hum Mutat· September 2020

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Correction: Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Mev Dominguez-Valentin, Julian R Sampson, Toni T Seppälä, Sanne W Ten Broeke, John-Paul Plazzer, Matilde Navarro

Genet Med· September 2020

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Complete Loss of EPCAM Immunoexpression Identifies Deletion Carriers in MSH2-Negative Colorectal Neoplasia.
Míriam Cuatrecasas, Iñigo Gorostiaga, Cristina Riera, Esteban Saperas, Gemma Llort, Matilde Navarro

Cancers (Basel)· September 2020

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Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals.
Estela Dámaso, Maribel González-Acosta, Gardenia Vargas-Parra, Matilde Navarro, Judith Balmaña

Cancers (Basel)· July 2020

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Risk-Reducing Gynecological Surgery in Lynch Syndrome: Results of an International Survey from the Prospective Lynch Syndrome Database.
Mev Dominguez-Valentin, Toni T Seppälä, Christoph Engel, Stefan Aretz, Finlay Macrae, Matilde Navarro

J Clin Med· July 2020

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High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.
Maribel González-Acosta, Fátima Marín, Benjamin Puliafito, Nuria Bonifaci, Anna Fernández, Matilde Navarro

J Med Genet· April 2020

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Breast Cancer Patient with Li-Fraumeni Syndrome: A Case Report Highlighting the Importance of Multidisciplinary Management.
Beatriz Cirauqui, Teresa Morán, Anna Estival, Vanesa Quiroga, Olatz Etxaniz, Matilde Navarro

Case Rep Oncol· February 2020

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Cancer risks by gene, age, and gender in 6350 carriers of pathogenic mismatch repair variants: findings from the Prospective Lynch Syndrome Database.
Mev Dominguez-Valentin, Julian R Sampson, Toni T Seppälä, Sanne W Ten Broeke, John-Paul Plazzer, Matilde Navarro

Genet Med· January 2020

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Survival by colon cancer stage and screening interval in Lynch syndrome: a prospective Lynch syndrome database report.
Mev Dominguez-Valentin, Toni T Seppälä, Julian R Sampson, Finlay Macrae, Ingrid Winship, Matilde Navarro

Hered Cancer Clin Pract· October 2019

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