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8 results on '"González-Acosta, Maribel"'

1. Quality of Colonoscopy Is Associated With Adenoma Detection and Postcolonoscopy Colorectal Cancer Prevention in Lynch Syndrome

Author

Sánchez, Ariadna, Roos, Victorine H., Navarro, Matilde, Pineda, Marta, Caballol, Berta, Moreno, Lorena, Carballal, Sabela, Rodríguez-Alonso, Lorena, Ramon y Cajal, Teresa, Llort, Gemma, Piñol, Virginia, López-Fernández, Adrià, Salces, Inmaculada, Picó, Maria Dolores, Rivas, Laura, Bujanda, Luis, Garzon, Marta, Pizarro, Angeles, Martinez de Castro, Eva, López-Arias, Maria Jesus, Poves, Carmen, Garau, Catalina, Rodriguez-Alcalde, Daniel, Herraiz, Maite, Alvarez-Urrutia, Cristina, Dacal, Andres, Carrillo-Palau, Marta, Cid, Lucia, Ponce, Marta, Barreiro-Alonso, Eva, Saperas, Esteban, Aguirre, Elena, Romero, Cristina, Bastiaansen, Barbara, Gonzalez-Acosta, Maribel, Morales-Romero, Blai, Ocaña, Teresa, Rivero-Sánchez, Liseth, Jung, Gerhard, Bessa, Xavier, Cubiella, Joaquin, Jover, Rodrigo, Rodríguez-Moranta, Francisco, Balmaña, Judith, Brunet, Joan, Castells, Antoni, Dekker, Evelien, Capella, Gabriel, Serra-Burriel, Miquel, Moreira, Leticia, Pellise, Maria, and Balaguer, Francesc

Published
2022
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3. Elucidating the clinical significance of two PMS2 missense variants coexisting in a family fulfilling hereditary cancer criteria

Author

González-Acosta, Maribel, del Valle, Jesús, Navarro, Matilde, Thompson, Bryony A., Iglesias, Sílvia, Sanjuan, Xavier, Paúles, María José, Padilla, Natàlia, Fernández, Anna, Cuesta, Raquel, Teulé, Àlex, Plotz, Guido, Cadiñanos, Juan, de la Cruz, Xavier, Balaguer, Francesc, Lázaro, Conxi, Pineda, Marta, and Capellá, Gabriel

Published
2017
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4. Elucidating the molecular basis of MSH2‐deficient tumors by combined germline and somatic analysis

Author

Vargas‐Parra, Gardenia M., González‐Acosta, Maribel, Thompson, Bryony A., Gómez, Carolina, Fernández, Anna, Dámaso, Estela, Pons, Tirso, Morak, Monika, del Valle, Jesús, Iglesias, Silvia, Velasco, Àngela, Solanes, Ares, Sanjuan, Xavier, Padilla, Natàlia, de la Cruz, Xavier, Valencia, Alfonso, Holinski‐Feder, Elke, Brunet, Joan, Feliubadaló, Lídia, Lázaro, Conxi, Navarro, Matilde, Pineda, Marta, and Capellá, Gabriel

Published
2017
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5. Comprehensive Constitutional Genetic and Epigenetic Characterization of Lynch-Like Individuals

Author

Dámaso, Estela, primary, González-Acosta, Maribel, additional, Vargas-Parra, Gardenia, additional, Navarro, Matilde, additional, Balmaña, Judith, additional, Ramon y Cajal, Teresa, additional, Tuset, Noemí, additional, Thompson, Bryony A., additional, Marín, Fátima, additional, Fernández, Anna, additional, Gómez, Carolina, additional, Velasco, Àngela, additional, Solanes, Ares, additional, Iglesias, Sílvia, additional, Urgel, Gisela, additional, López, Consol, additional, del Valle, Jesús, additional, Campos, Olga, additional, Santacana, Maria, additional, Matias-Guiu, Xavier, additional, Lázaro, Conxi, additional, Valle, Laura, additional, Brunet, Joan, additional, Pineda, Marta, additional, and Capellá, Gabriel, additional

Published
2020
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6. High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers

Author

González-Acosta, Maribel, primary, Marín, Fátima, additional, Puliafito, Benjamin, additional, Bonifaci, Nuria, additional, Fernández, Anna, additional, Navarro, Matilde, additional, Salvador, Hector, additional, Balaguer, Francesc, additional, Iglesias, Silvia, additional, Velasco, Angela, additional, Grau Garces, Elia, additional, Moreno, Victor, additional, Gonzalez-Granado, Luis Ignacio, additional, Guerra-García, Pilar, additional, Ayala, Rosa, additional, Florkin, Benoît, additional, Kratz, Christian, additional, Ripperger, Tim, additional, Rosenbaum, Thorsten, additional, Januszkiewicz-Lewandowska, Danuta, additional, Azizi, Amedeo A, additional, Ragab, Iman, additional, Nathrath, Michaela, additional, Pander, Hans-Jürgen, additional, Lobitz, Stephan, additional, Suerink, Manon, additional, Dahan, Karin, additional, Imschweiler, Thomas, additional, Demirsoy, Ugur, additional, Brunet, Joan, additional, Lázaro, Conxi, additional, Rueda, Daniel, additional, Wimmer, Katharina, additional, Capellá, Gabriel, additional, and Pineda, Marta, additional

Published
2019
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7. High-sensitivity microsatellite instability assessment for the detection of mismatch repair defects in normal tissue of biallelic germline mismatch repair mutation carriers.

Author

González-Acosta, Maribel, Marín, Fátima, Puliafito, Benjamin, Bonifaci, Nuria, Fernández, Anna, Navarro, Matilde, Salvador, Hector, Balaguer, Francesc, Iglesias, Silvia, Velasco, Angela, Grau Garces, Elia, Moreno, Victor, Ignacio Gonzalez-Granado, Luis, Guerra-García, Pilar, Ayala, Rosa, Florkin, Benoît, Kratz, Christian, Ripperger, Tim, Rosenbaum, Thorsten, and Januszkiewicz-Lewandowska, Danuta

Abstract

Introduction Lynch syndrome (LS) and constitutional mismatch repair deficiency (CMMRD) are hereditary cancer syndromes associated with mismatch repair (MMR) deficiency. Tumours show microsatellite instability (MSI), also reported at low levels in non-neoplastic tissues. Our aim was to evaluate the performance of high-sensitivity MSI (hs-MSI) assessment for the identification of LS and CMMRD in non-neoplastic tissues. Materials and methods Blood DNA samples from 131 individuals were grouped into three cohorts: baseline (22 controls), training (11 CMMRD, 48 LS and 15 controls) and validation (18 CMMRD and 18 controls). Custom next generation sequencing panel and bioinformatics pipeline were used to detect insertions and deletions in microsatellite markers. An hs-MSI score was calculated representing the percentage of unstable markers. Results The hs-MSI score was significantly higher in CMMRD blood samples when compared with controls in the training cohort (p<0.001). This finding was confirmed in the validation set, reaching 100% specificity and sensitivity. Higher hs-MSI scores were detected in biallelic MSH2 carriers (n=5) compared with MSH6 carriers (n=15). The hs-MSI analysis did not detect a difference between LS and control blood samples (p=0.564). Conclusions The hs-MSI approach is a valuable tool for CMMRD diagnosis, especially in suspected patients harbouring MMR variants of unknown significance or non-detected biallelic germline mutations. [ABSTRACT FROM AUTHOR]

Published
2020
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8. Validation of an in VitroMismatch Repair Assay Used in the Functional Characterization of Mismatch Repair Variants

Author

González-Acosta, Maribel, Hinrichsen, Inga, Fernández, Anna, Lázaro, Conxi, Pineda, Marta, Plotz, Guido, and Capellá, Gabriel

Abstract

A significant proportion of DNA-mismatch repair (MMR) variants are classified as of unknown significance, precluding diagnosis. The in vitroMMR assay is used to assess their MMR capability, likely the most important function of an MMR protein. However, the robustness of the assay, crucial for its use in the clinical setting, has been rarely evaluated. The aim of the present work was to validate an in vitroMMR assay approach to the functional characterization of MMR variants, as a first step to meeting quality standards of diagnostic laboratories. The MMR assay was optimized by testing a variety of reagents and experimental conditions. Reference materials and standard operating procedures were established. To determine the intra- and interexperimental variability of the assay and its reproducibility among centers, independent transfections of six previously characterized MLH1variants were performed in two independent laboratories. Reagents and conditions optimal for performing the in vitroMMR assay were determined. The validated assay demonstrated no significant intra- or interexperimental variability and good reproducibility between centers. We set up a robust in vitroMMR assay that can provide relevant in vitrofunctional evidence for MMR variant pathogenicity assessment, eventually improving the molecular diagnosis of hereditary cancer syndromes associated with MMR deficiency.

Published
2024
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