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2. Clinical, histological, and molecular differences in melanoma due to different TERT promoter mutations subtypes. A retrospective cross‐sectional study in 684 melanoma patients.

Author

Manrique‐Silva, Esperanza, David, Millán‐Esteban, Maider, Aguerralde‐Martin, García‐Casado, Zaida, Moro, Ruggero, Requena, Celia, Través, Victor, Virós, Amaya, Kumar, Rajiv, and Nagore, Eduardo

Subjects
MELANOMA, CROSS-sectional method, DISCRIMINANT analysis, RETROSPECTIVE studies, SURVIVAL rate
Abstract

Differences in survival according to the pTERT mutation subtypes (−124C > T, −146C > T, and tandem −138_139CC > TT) have been observed. The present study aimed to describe the clinical as the histopathological and molecular cutaneous melanoma features according to the presence of the three most prevalent pTERT mutation subtypes (−124C > T, −146C > T, and tandem −138_139CC > TT). A retrospective cross‐sectional study including 684 patients was designed, and a Partial Least‐Squares Discriminant Analysis (PLS‐DA) was performed. After the PSL‐DA, it was observed that the tandem −138_139CC > TT subtype differs from the other subtypes. The model demonstrated that the −124C > T and the −138_139 CC > TT subtypes were associated with fast‐growing melanomas (OR 0.5, CI 0.29–0.86, p =.012) and with Breslow >2 mm (OR 0.6, CI 0.37–0.97, p =.037), compared to the −146C > T mutation. Finally, the −124C > T appeared to be more associated with the presence of TILs (non‐brisk) than the −146C > T (OR 0.6, CI 0.40–1.01, p =.05). These findings confirmed that the −124C > T and the tandem −138_139 CC > TT subtypes are both highly associated with the presence of features of aggressiveness; however, only the −124C > T was highly associated with TILs. This difference could explain the worse survival rate associated with the tandem −138_139CC > TT mutations. Research Highlights: This study suggests that the −124C > T and the −138_139 CC > TT are highly associated with features of aggressiveness, for example with fast growing melanomas and with Breslow >2 mm. Although, only the −124C > T appeared to be more associated with the presence of TILs. If validated, the determination of the pTERT mutation subtypes can enter clinical practice and allow the identification of patients at higher risk of developing metastatic disease. [ABSTRACT FROM AUTHOR]

Published
2024
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3. Molecular Profile of Subungual Melanoma: A MelaNostrum Consortium Study of 68 Cases Reporting BRAF, NRAS, KIT, and TERT Promoter Status

Author

Millan-Esteban, David, primary, García-Casado, Zaida, additional, Macià, Anna, additional, de la Rosa, Inés, additional, Torrecilla-Vall-llossera, Clara, additional, Penin, Rosa Maria, additional, Manrique - Silva, Esperanza, additional, Pellegrini, Stefania, additional, Biasin, Maria Raffaella, additional, Rizzolo, Piera, additional, Gavillero, Alicia, additional, Di Stefani, Alessandro, additional, Pellegrini, Cristina, additional, Requena, Celia, additional, Fargnoli, Maria Concetta, additional, Peris, Ketty, additional, Cota, Carlo, additional, Menin, Chiara, additional, Landi, Maria Teresa, additional, and Nagore, Eduardo, additional

Published
2023
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4. Phase II Trial Evaluating Olaparib Maintenance in Patients with Metastatic Castration-Resistant Prostate Cancer Responsive or Stabilized on Docetaxel Treatment: SOGUG-IMANOL Study

Author

Juan Fita, María José, primary, Anido Herranz, Urbano, additional, Mendez-Vidal, María José, additional, Gironés-Sarrió, Regina, additional, Muñoz-Langa, José, additional, Sepúlveda-Sánchez, Juan, additional, Mellado, Begoña, additional, Alvarez-Fernandez, Carlos, additional, Heras López, Lucía, additional, López-Guerrero, José Antonio, additional, García-Casado, Zaida, additional, Calatrava, Ana, additional, and Ángel Climent, Miguel, additional

Published
2023
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6. A shared origin from a common ancestor: A case report of two histologically different tumors

Author

Varea-Martínez, Maria, primary, García-Valero, Eva, additional, López-Reig, Raquel, additional, Romero, Ignacio, additional, Machado, Isidro, additional, Gómez-Ferrer, Álvaro, additional, Aliaga, Jessica, additional, Claramunt-Alonso, Reyes, additional, Fernández-Serra, Antonio, additional, Marenco-Jiménez, José L., additional, García-Casado, Zaida, additional, and López-Guerrero, José Antonio, additional

Published
2023
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7. The Scarface Score: Deciphering Response to DNA Damage Agents in High-Grade Serous Ovarian Cancer—A GEICO Study

Author

Fernández-Serra, Antonio, primary, López-Reig, Raquel, additional, Márquez, Raúl, additional, Gallego, Alejandro, additional, de Sande, Luís Miguel, additional, Yubero, Alfonso, additional, Pérez-Segura, Cristina, additional, Ramchandani-Vaswani, Avinash, additional, Barretina-Ginesta, María Pilar, additional, Mendizábal, Elsa, additional, Esteban, Carmen, additional, Gálvez, Fernando, additional, Sánchez-Heras, Ana Beatriz, additional, Guerra-Alía, Eva María, additional, Gaba, Lydia, additional, Quindós, María, additional, Palacio, Isabel, additional, Alarcón, Jesús, additional, Oaknin, Ana, additional, Aliaga, Jessica, additional, Ramírez-Calvo, Marta, additional, García-Casado, Zaida, additional, Romero, Ignacio, additional, and López-Guerrero, José Antonio, additional

Published
2023
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8. Chronic lymphocytic leukemia with isochromosome 17q: An aggressive subgroup associated with TP53 mutations and complex karyotypes

Author

Collado, Rosa, Puiggros, Anna, López-Guerrero, José Antonio, Calasanz, M<ce:sup loc='post">a</ce:sup> José, Larráyoz, M<ce:sup loc='post">a</ce:sup> José, Ivars, David, García-Casado, Zaida, Abella, Eugènia, Orero, M<ce:sup loc='post">a</ce:sup> Teresa, Talavera, Elisabet, Oliveira, Ana Carla, Hernández-Rivas, Jesús M<ce:sup loc='post">a</ce:sup>, Hernández-Sánchez, María, Luño, Elisa, Valiente, Alberto, Grau, Javier, Portal, Inmaculada, Gardella, Santiago, Salgado, Anna Camino, Giménez, M<ce:sup loc='post">a</ce:sup> Teresa, Ardanaz, M<ce:sup loc='post">a</ce:sup> Teresa, Campeny, Andrea, Hernández, José Julio, Álvarez, Sara, Espinet, Blanca, and Carbonell, Félix

Published
2017
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10. Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS)

Author

Ramírez-Calvo, Marta, García-Casado, Zaida, Fernández-Serra, Antonio, de Juan, Inmaculada, Palanca, Sarai, Oltra, Silvestre, Soto, José Luis, Castillejo, Adela, Barbera, Víctor M, Juan-Fita, Ma José, Segura, Ángel, Chirivella, Isabel, Sánchez, Ana Beatriz, Tena, Isabel, Chaparro, Carolina, Salas, Dolores, and López-Guerrero, José Antonio

Published
2019
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11. Molecular Profile of Subungual Melanoma: A MelaNostrum Consortium Study of 68 Cases Reporting BRAF, NRAS, KIT, and TERT Promoter Status.

Author

Millan-Esteban, David, García-Casado, Zaida, Macià, Anna, de la Rosa, Inés, Torrecilla-Vall-llossera, Clara, Penin, Rosa Maria, Manrique - Silva, Esperanza, Pellegrini, Stefania, Biasin, Maria Raffaella, Rizzolo, Piera, Gavillero, Alicia, Di Stefani, Alessandro, Pellegrini, Cristina, Requena, Celia, Fargnoli, Maria Concetta, Peris, Ketty, Cota, Carlo, Menin, Chiara, Landi, Maria Teresa, and Nagore, Eduardo

Subjects
BRAF genes, NUCLEOTIDE sequencing, PROMOTERS (Genetics), NAIL diseases, MELANOMA, GENETIC mutation
Abstract

Background: Subungual melanoma (SM) is an unusual type of melanocytic tumor affecting the nail apparatus. The mutational prevalence of the most prominently mutated genes in melanoma has been reported in small cohorts of SM, with unclear conclusions on whether SM is different from the rest of melanomas arising in acral locations or not. Hence, the molecular profile of a large series of SM is yet to be described. Objectives: The aim of this study was to describe the molecular characteristics of a large series of SM and their association with demographic and histopathological features. Methods: Patients diagnosed with SM between 2001 and 2021 were identified from six Spanish and Italian healthcare centers. The mutational status for BRAF, NRAS, KIT, and the promoter region of TERT (TERTp) were determined either by Sanger sequencing or next-generation sequencing. Clinical data were retrieved from the hospital databases to elucidate potential associations. Results: A total of 68 SM cases were included. Mutations were most common in BRAF (10.3%) and KIT (10%), followed by NRAS (7.6%), and TERTp (3.8%). Their prevalence was similar to that of non-subungual acral melanoma but higher in SM located on the hand than on the foot. Conclusions: To date, this study represents the largest cohort of SM patients with data on the known driver gene mutations. The low mutation rate supports a different etiopathogenic mechanism for SM in comparison of non-acral cutaneous melanoma, particularly for SM of the foot. [ABSTRACT FROM AUTHOR]

Published
2024
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13. Identification of miR-187 and miR-182 as Biomarkers of Early Diagnosis and Prognosis in Patients with Prostate Cancer Treated with Radical Prostatectomy

Author

Casanova-Salas, Irene, Rubio-Briones, José, Calatrava, Ana, Mancarella, Caterina, Masiá, Esther, Casanova, Juan, Fernández-Serra, Antonio, Rubio, Luis, Ramírez-Backhaus, Miguel, Armiñán, Ana, Domínguez-Escrig, José, Martínez, Francisco, García-Casado, Zaida, Scotlandi, Katia, Vicent, María J., and López-Guerrero, José Antonio

Published
2014
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14. Adult Pancreatoblastoma: Report of 3 new Cases With Genetic Diversity and Autopsy Findings.

Author

Machado, Isidro, López-Guerrero, José Antonio, Fernandez, Antonio, López, Raquel, García Casado, Zaida, Ferrandez, Antonio, Llombart-Bosch, Antonio, and Charville, Gregory W.

Subjects
AUTOPSY, GENETIC variation, NEUROENDOCRINE tumors, ADULTS, PANCREATIC tumors, CHYMOTRYPSIN
Abstract

We report the histopathological, immunohistochemical (IHC), and molecular findings in 3 patients with adult pancreatoblastoma, including 2 with autopsy features. The tumors were located in the tail and body of the pancreas, and the 2 autopsy examinations revealed liver and lung metastases. Histopathologically the neoplasms were composed of solid epithelial elements with nested or trabecular growth patterns, fibrous stroma, and squamoid clusters. Keratin 19 was positive mainly in squamoid corpuscles, and trypsin or chymotrypsin was positive in the acinar component. Neuroendocrine differentiation was observed in all tumors, and nuclear β-catenin expression in 2 tumors. Despite nuclear β-catenin expression, CTNNB1 mutation was found only in tumor 2. APC mutation was detected in tumor 1, and SMAD4 as well as MEN1 mutations in tumor 3. This last tumor also revealed chromosomal instability with many chromosomal losses and gains. The follow-up showed regional or distant metastases in all patients. Two patients died of disease after 3 and 26 months of follow-up and 1 patient is alive with no evidence of disease 6 years and 2 months after surgery. Adult pancreatoblastoma can display genetic heterogeneity, diverse histological appearance, and overlapping IHC findings. As a result, the differential diagnosis with other adult pancreatic tumors, such as acinar cell carcinoma, neuroendocrine neoplasm, solid pseudopapillary neoplasm, and mixed tumors may be challenging, especially when dealing with limited tumor tissue. The identification of squamoid corpuscles is essential for diagnosis. Although molecular findings might provide useful information, the integration of clinical, radiological, and histopathological findings is essential in pancreatoblastoma diagnosis. [ABSTRACT FROM AUTHOR]

Published
2023
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15. Relationship of immunohistochemistry, copy number aberrations and epigenetic disorders with BRCAness pattern in hereditary and sporadic breast cancer

Author

Murria Estal, Rosa, Palanca Suela, Sarai, de Juan Jiménez, Inmaculada, Alenda Gonzalez, Cristina, Egoavil Rojas, Cecilia, García-Casado, Zaida, López Guerrero, Jose Antonio, Juan Fita, María José, Sánchez Heras, Ana Beatriz, Segura Huerta, Ángel, Santaballa Bertrán, Ana, Chirivella González, Isabel, Llop García, Marta, Pérez Simó, Gema, Barragán González, Eva, and Bolufer Gilabert, Pascual

Published
2016
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17. Laboratory cross-comparison and ring test trial for tumor BRCA testing in a multicenter epithelial ovarian cancer series: The BORNEO GEICO 60-0 study

Author

AstraZeneca, García-Casado, Zaida, Oaknin, Ana, Mendiola, Marta, Alkorta-Aranburu, Gorka, Antúnez-López, José Ramón, Moreno-Bueno, Gema, Palacios Calvo, José, Yubero, Alfonso, Márquez, Raúl, Gallego, Alejandro, Sánchez-Heras, Ana Beatriz, López-Guerrero, José Antonio, Pérez-Segura, Cristina, Barretina-Ginesta, Pilar, Alarcón, Jesús, Gaba, Lydia, Márquez, Antonia, Matito, Judit, Cueva, Juan, Palacio, Isabel, Iglesias, María, Arcusa, Angels, Sánchez-Lorenzo, Luisa, Guerra-Alia, Eva, Romero, Ignacio, Vivancos, Ana, AstraZeneca, García-Casado, Zaida, Oaknin, Ana, Mendiola, Marta, Alkorta-Aranburu, Gorka, Antúnez-López, José Ramón, Moreno-Bueno, Gema, Palacios Calvo, José, Yubero, Alfonso, Márquez, Raúl, Gallego, Alejandro, Sánchez-Heras, Ana Beatriz, López-Guerrero, José Antonio, Pérez-Segura, Cristina, Barretina-Ginesta, Pilar, Alarcón, Jesús, Gaba, Lydia, Márquez, Antonia, Matito, Judit, Cueva, Juan, Palacio, Isabel, Iglesias, María, Arcusa, Angels, Sánchez-Lorenzo, Luisa, Guerra-Alia, Eva, Romero, Ignacio, and Vivancos, Ana

Abstract

Germline and tumor BRCA testing constitutes a valuable tool for clinical decision-making in the management of epithelial ovarian cancer (EOC) patients. Tissue testing is able to identify both germline (g) and somatic (s) BRCA variants, but tissue preservation methods and the widespread implementation of NGS represent pre-analytical and analytical challenges that need to be managed. This study was carried out on a multicenter prospective GEICO cohort of EOC patients with known gBRCA status in order to determine the inter-laboratory reproducibility of tissue sBRCA testing. The study consisted of two independent experimental approaches, a bilateral comparison between two reference laboratories (RLs) testing 82 formalin-paraffin-embedded (FFPE) EOC samples each, and a Ring Test Trial (RTT) with five participating clinical laboratories (CLs) evaluating the performance of tissue BRCA testing in a total of nine samples. Importantly, labs employed their own locally adopted next-generation sequencing (NGS) analytical approach. BRCA mutation frequency in the RL sub-study cohort was 23.17%: 12 (63.1%) germline and 6 (31.6%) somatic. Concordance between the two RLs with respect to BRCA status was 84.2% (gBRCA 100%). The RTT study distributed a total of nine samples (three commercial synthetic human FFPE references, three FFPE, and three OC DNA) among five CLs. The median concordance detection rate among them was 64.7% (range: 35.3–70.6%). Analytical discrepancies were mainly due to the minimum variant allele frequency thresholds, bioinformatic pipeline filters, and downstream variant interpretation, some of them with consequences of clinical relevance. Our study demonstrates a wide range of concordance in the identification and interpretation of BRCA sequencing data, highlighting the relevance of establishing standard criteria for detecting, interpreting, and reporting BRCA variants.

Published
2022

20. sj-pptx-2-ijs-10.1177_10668969221133351 - Supplemental material for Adult Pancreatoblastoma: Report of 3 new Cases With Genetic Diversity and Autopsy Findings

Author

Machado, Isidro, López-Guerrero, José Antonio, Fernandez, Antonio, López, Raquel, García Casado, Zaida, Ferrandez, Antonio, Llombart-Bosch, Antonio, and Charville, Gregory W.

Subjects
FOS: Clinical medicine, 110323 Surgery, 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified
Abstract

Supplemental material, sj-pptx-2-ijs-10.1177_10668969221133351 for Adult Pancreatoblastoma: Report of 3 new Cases With Genetic Diversity and Autopsy Findings by Isidro Machado, José Antonio López-Guerrero, Antonio Fernandez, Raquel López, Zaida García Casado, Antonio Ferrandez, Antonio Llombart-Bosch and Gregory W. Charville in International Journal of Surgical Pathology

Published
2022
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21. sj-pptx-4-ijs-10.1177_10668969221133351 - Supplemental material for Adult Pancreatoblastoma: Report of 3 new Cases With Genetic Diversity and Autopsy Findings

Author

Machado, Isidro, López-Guerrero, José Antonio, Fernandez, Antonio, López, Raquel, García Casado, Zaida, Ferrandez, Antonio, Llombart-Bosch, Antonio, and Charville, Gregory W.

Subjects
FOS: Clinical medicine, 110323 Surgery, 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified
Abstract

Supplemental material, sj-pptx-4-ijs-10.1177_10668969221133351 for Adult Pancreatoblastoma: Report of 3 new Cases With Genetic Diversity and Autopsy Findings by Isidro Machado, José Antonio López-Guerrero, Antonio Fernandez, Raquel López, Zaida García Casado, Antonio Ferrandez, Antonio Llombart-Bosch and Gregory W. Charville in International Journal of Surgical Pathology

Published
2022
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22. sj-pptx-3-ijs-10.1177_10668969221133351 - Supplemental material for Adult Pancreatoblastoma: Report of 3 new Cases With Genetic Diversity and Autopsy Findings

Author

Machado, Isidro, López-Guerrero, José Antonio, Fernandez, Antonio, López, Raquel, García Casado, Zaida, Ferrandez, Antonio, Llombart-Bosch, Antonio, and Charville, Gregory W.

Subjects
FOS: Clinical medicine, 110323 Surgery, 111599 Pharmacology and Pharmaceutical Sciences not elsewhere classified
Abstract

Supplemental material, sj-pptx-3-ijs-10.1177_10668969221133351 for Adult Pancreatoblastoma: Report of 3 new Cases With Genetic Diversity and Autopsy Findings by Isidro Machado, José Antonio López-Guerrero, Antonio Fernandez, Raquel López, Zaida García Casado, Antonio Ferrandez, Antonio Llombart-Bosch and Gregory W. Charville in International Journal of Surgical Pathology

Published
2022
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24. Distribution and clinical role of KIT gene mutations in melanoma according to subtype: a study of 492 Spanish patients

Author

Millán-Esteban, David, additional, García-Casado, Zaida, additional, Manrique-Silva, Esperanza, additional, Virós, Amaya, additional, Kumar, Rajiv, additional, Furney, Simon, additional, López-Guerrero, José Antonio, additional, Requena, Celia, additional, Bañuls, Jose, additional, Traves, Víctor, additional, and Nagore, Eduardo, additional

Published
2021
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26. Novel and recurrent BRCA1/BRCA2 mutations in early onset and familial breast and ovarian cancer detected in the Program of Genetic Counseling in Cancer of Valencian Community (eastern Spain). Relationship of family phenotypes with mutation prevalence

Author

de Juan Jiménez, Inmaculada, García Casado, Zaida, Palanca Suela, Sarai, Esteban Cardeñosa, Eva, López Guerrero, José Antonio, Segura Huerta, Ángel, Chirivella González, Isabel, Sánchez Heras, Ana Beatriz, Juan Fita, Mª José, Tena García, Isabel, Guillen Ponce, Carmen, Martínez de Dueñas, Eduardo, Romero Noguera, Ignacio, Salas Trejo, Dolores, Goicoechea Sáez, Mercedes, and Bolufer Gilabert, Pascual

Published
2013
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27. Mutational Characterization of Cutaneous Melanoma Supports Divergent Pathways Model for Melanoma Development

Author

Millán-Esteban, David, primary, Peña-Chilet, María, additional, García-Casado, Zaida, additional, Manrique-Silva, Esperanza, additional, Requena, Celia, additional, Bañuls, José, additional, López-Guerrero, Jose Antonio, additional, Rodríguez-Hernández, Aranzazu, additional, Traves, Víctor, additional, Dopazo, Joaquín, additional, Virós, Amaya, additional, Kumar, Rajiv, additional, and Nagore, Eduardo, additional

Published
2021
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29. Prevalence of MLH1 constitutional epimutations as a cause of Lynch syndrome in unselected versus selected consecutive series of patients with colorectal cancer

Author

Castillejo, Adela, Hernández-Illán, Eva, Rodriguez-Soler, María, Pérez-Carbonell, Lucía, Egoavil, Cecilia, Barberá, Victor M, Castillejo, María-Isabel, Guarinos, Carla, Martínez-de-Dueñas, Eduardo, Juan, María-Jose, Sánchez-Heras, Ana-Beatriz, García-Casado, Zaida, Ruiz-Ponte, Clara, Brea-Fernández, Alejandro, Juárez, Miriam, Bujanda, Luis, Clofent, Juan, Llor, Xavier, Andreu, Montserrat, Castells, Antoni, Carracedo, Angel, Alenda, Cristina, Payá, Artemio, Jover, Rodrigo, and Soto, José-Luis

Published
2015
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31. MicroRNA signatures in hereditary breast cancer

Author

Murria Estal, Rosa, Palanca Suela, Sarai, de Juan Jiménez, Inmaculada, Egoavil Rojas, Cecilia, García-Casado, Zaida, Juan Fita, María José, Sánchez Heras, Ana Beatriz, Segura Huerta, Ángel, Chirivella González, Isabel, Sánchez-Izquierdo, Dolors, Llop García, Marta, Barragán González, Eva, and Bolufer Gilabert, Pascual

Published
2013
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32. Mutational Characterization of Cutaneous Melanoma Supports Divergent Pathways Model for Melanoma Development

Author

Ministerio de Ciencia e Innovación (España), Instituto de Salud Carlos III, Asociación Española Contra el Cáncer, European Academy of Dermatology and Venereology, Millán-Esteban, David, Peña-Chilet, María, García-Casado, Zaida, Manrique-Silva, Esperanza, Requena, Celia, Bañuls, José, López-Guerrero, José Antonio, Rodríguez-Hernández, Aranzazu, Traves, Víctor, Dopazo, Joaquín, Virós, Amaya, Kumar, Rajiv, Nagore, Eduardo, Ministerio de Ciencia e Innovación (España), Instituto de Salud Carlos III, Asociación Española Contra el Cáncer, European Academy of Dermatology and Venereology, Millán-Esteban, David, Peña-Chilet, María, García-Casado, Zaida, Manrique-Silva, Esperanza, Requena, Celia, Bañuls, José, López-Guerrero, José Antonio, Rodríguez-Hernández, Aranzazu, Traves, Víctor, Dopazo, Joaquín, Virós, Amaya, Kumar, Rajiv, and Nagore, Eduardo

Abstract

[Simple Summary] The divergent pathway model established at least two approaches for melanoma development. One was related to a propensity to melanocytic proliferation (nevogenic), and the other was associated with an accumulation of solar damage (CSD). We conducted a retrospective study to examine whether this model had a molecular support using sequencing and bioinformatic tools on a set of cutaneous melanomas corresponding to these two groups. We found that the nevogenic melanomas were associated with mutations in BRAF, while the CSD melanomas were associated with mutations in NF1, ROS1, GNA11, and RAC1. We concluded that nevogenic and CSD melanomas constitute two different biological entities., [Abstract] According to the divergent pathway model, cutaneous melanoma comprises a nevogenic group with a propensity to melanocyte proliferation and another one associated with cumulative solar damage (CSD). While characterized clinically and epidemiologically, the differences in the molecular profiles between the groups have remained primarily uninvestigated. This study has used a custom gene panel and bioinformatics tools to investigate the potential molecular differences in a thoroughly characterized cohort of 119 melanoma patients belonging to nevogenic and CSD groups. We found that the nevogenic melanomas had a restricted set of mutations, with the prominently mutated gene being BRAF. The CSD melanomas, in contrast, showed mutations in a diverse group of genes that included NF1, ROS1, GNA11, and RAC1. We thus provide evidence that nevogenic and CSD melanomas constitute different biological entities and highlight the need to explore new targeted therapies.

Published
2021

33. Inherited variation in the PARP1 gene and survival from melanoma

Author

Davies, John R., Jewell, Rosalyn, Affleck, Paul, Anic, Gabriella M., Randerson-Moor, Juliette, Ozola, Aija, Egan, Kathleen M., Elliott, Faye, García-Casado, Zaida, Hansson, Johan, Harland, Mark, Höiom, Veronica, Jian, Guan, Jönsson, Göran, Kumar, Rajiv, Nagore, Eduardo, Wendt, Judith, Olsson, Håkan, Park, Jong Y., Patel, Poulam, Pjanova, Dace, Puig, Susana, Schadendorf, Dirk, Sivaramakrishna Rachakonda, P., Snowden, Helen, Stratigos, Alexander J., Bafaloukos, Dimitrios, Ogbah, Zighereda, Sucker, Antje, Van den Oord, Joost J., Van Doorn, Remco, Walker, Christy, Okamoto, Ichiro, Wolter, Pascal, Barrett, Jennifer H., Timothy Bishop, D., and Newton-Bishop, Julia

Published
2014
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34. An inherited variant in the gene coding for vitamin D-binding protein and survival from cutaneous melanoma: a BioGenoMEL study

Author

Davies, John R., Field, Sinead, Randerson-Moor, Juliette, Harland, Mark, Kumar, Rajiv, Anic, Gabriella M., Nagore, Eduardo, Hansson, Johan, Höiom, Veronica, Jönsson, Göran, Gruis, Nelleke A., Park, Jong Y., Guan, Jian, Rachakonda, P. Sivaramakrishna, Wendt, Judith, Pjanova, Dace, Puig, Susana, Schadendorf, Dirk, Okamoto, Ichiro, Olsson, Håkan, Affleck, Paul, García-Casado, Zaida, Puig-Butille, Joan Anton, Stratigos, Alexander J., Kodela, Elizabeth, Donina, Simona, Sucker, Antje, Hosen, Ismail, Egan, Kathleen M., Barrett, Jennifer H., van Doorn, Remco, Bishop, Timothy D., and Newton-Bishop, Julia

Published
2014
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38. Inherited variants in the MC1R gene and survival from cutaneous melanoma: a BioGenoMEL study

Author

Davies, John R., Randerson-Moor, Juliette, Kukalizch, Kairen, Harland, Mark, Kumar, Rajiv, Madhusudan, Srinivasan, Nagore, Eduardo, Hansson, Johan, Höiom, Veronica, Ghiorzo, Paola, Gruis, Nelleke A., Kanetsky, Peter A., Wendt, Judith, Pjanova, Dace, Puig, Susana, Saiag, Philippe, Schadendorf, Dirk, Soufir, Nadem, Okamoto, Ichiro, Affleck, Paul, García-Casado, Zaida, Ogbah, Zighereda, Ozola, Aija, Queirolo, Paola, Sucker, Antje, Barrett, Jennifer H., van Doorn, Remco, Bishop, Timothy D., and Newton-Bishop, Julia

Published
2012
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40. Additional file 2: of Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS)

Author

Ramírez-Calvo, Marta, García-Casado, Zaida, Fernández-Serra, Antonio, Juan, Inmaculada, Palanca, Sarai, Oltra, Silvestre, Soto, José, Castillejo, Adela, Barbera, Víctor M, Juan-Fita, Ma, Segura, Ángel, Chirivella, Isabel, Sánchez, Ana, Tena, Isabel, Chaparro, Carolina, Salas, Dolores, and López-Guerrero, José

Abstract

Table S2: Validation designed primer sequences. (DOCX 32 kb)

Published
2019
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41. Additional file 4: of Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS)

Author

Ramírez-Calvo, Marta, García-Casado, Zaida, Fernández-Serra, Antonio, Juan, Inmaculada, Palanca, Sarai, Oltra, Silvestre, Soto, José, Castillejo, Adela, Barbera, Víctor M, Juan-Fita, Ma, Segura, Ángel, Chirivella, Isabel, Sánchez, Ana, Tena, Isabel, Chaparro, Carolina, Salas, Dolores, and López-Guerrero, José

Abstract

Table S4: Detailed classification of variants per sample. (DOCX 46 kb)

Published
2019
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42. Additional file 3: of Implementation of massive sequencing in the genetic diagnosis of hereditary cancer syndromes: diagnostic performance in the Hereditary Cancer Programme of the Valencia Community (FamCan-NGS)

Author

Ramírez-Calvo, Marta, García-Casado, Zaida, Fernández-Serra, Antonio, Juan, Inmaculada, Palanca, Sarai, Oltra, Silvestre, Soto, José, Castillejo, Adela, Barbera, Víctor M, Juan-Fita, Ma, Segura, Ángel, Chirivella, Isabel, Sánchez, Ana, Tena, Isabel, Chaparro, Carolina, Salas, Dolores, and López-Guerrero, José

Abstract

Table S3: Sequencing metrics of analyzed samples. (DOCX 45 kb)

Published
2019
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44. Expression profiles of angiogenesis in two high grade chondrosarcomas: A xenotransplant experience in nude mice

Author

Giner, Francisco, López Guerrero, José Antonio, Machado, Isidro, García Casado, Zaida, Fernández Serra, Antonio, Peydró Olaya, Amando, and Llombart Bosch, Antonio

Subjects
Nude mice xenograft, 6 - Ciencias aplicadas::61 - Medicina::616 - Patología. Medicina clínica. Oncología [CDU], Chondrosarcoma, Angiogenesis, Chemokines
Abstract

Background. Chondrosarcomas (Chs) are malignant cartilage-forming tumors that represent the third most common malignant solid tumor of bone in adults. Angiogenesis is a major factor for tumor growth and metastasis. Our aim was to make a histological, immunohistochemical, ultrastructural and molecular characterization of the neovascularization established between xenotransplanted Chs and the host during the initial phases of growth in nude transfer, in order to find potential markers for distinguishing between high grades II and III Chs. Methods. two xenotransplanted high grade human Chs were evaluated. Tumor pieces were implanted subcutaneously on the backs of 14 athymic Balb-c nude mice. The animals were sacrificed 24, 48, and 96 hours; and 7, 14, 21 and 28 days after implantation. Two grade I Chs were also transferred in nude but did not grow. Results. Morphological differences were apparent between these two Chs during the early stages of neoplastic growth. Immunohistochemistry demonstrated overexpression of pro-angiogenic factors 24h-48h after tumor implantation. Additionally, neoplastic cells co-expressed chemokines (CXCL9, CXCL10 and GRO) and their receptors. Molecular studies showed two expression profiles, revealing an early and a late phase in the angiogenic process. Conclusion. High grade Chs demonstrated two different stages of induced angiogenesis, with an intimate association between structural and molecular events that might explain the different aggressive biological behavior of grade II and III Chs. The present model may be useful for testing the effect of anti-angiogenic drugs.

Published
2017

49. TERT promoter mutation subtypes and survival in stage I and II melanoma patients.

Author

Andrés‐Lencina, Juan J., Rachakonda, Sivaramakrishna, García‐Casado, Zaida, Srinivas, Nalini, Skorokhod, Alexander, Requena, Celia, Soriano, Virtudes, Kumar, Rajiv, and Nagore, Eduardo

Abstract

Mutations within the promoter of gene encoding telomerase reverse transcriptase subunit are frequent in many cancers including melanoma. Previously, the TERT promoter mutations were shown to associate with markers of poor outcome and reduced survival in patients with primary melanoma. In this study, we investigated the impact of the subtypes of TERT mutations on disease‐free and melanoma‐specific survival in 287 patients with stage I/II nonacral melanoma. Our results showed that of the three TERT promoter mutation subtypes, in multivariate models, the −138/−139 CC > TT tandem mutation associated with worst disease‐free and melanoma‐specific survival. In particular, in combination with BRAF/NRAS mutations, the −138/−139 CC > TT TERT promoter mutation associated with statistically significant poor disease‐free and melanoma‐specific survival with hazard ratios of 6.04 (95% CI 2.03–17.94, p = 0.001) and 12.59 (95% CI 2.18–72.70, p = 0.005), respectively. In contrast to the survival data, luciferase assays showed that the highest activity was observed in experiments with a promoter construct with −124 C > T mutation followed by the −138/−139 CC > TT and −146 C > T mutations, which showed similar activity. Based on previous reports, we speculate that the tandem mutation probably leads to greater genomic instability than the common TERT promoter mutations, hence the association with worst survival. However, the results from the study are only preliminary with limited patient data, therefore, require a cautious interpretation. The observations in this study, if confirmed, could have implications for melanoma patients treated with MAP‐kinase inhibitors. What's new? Mutations in the promoter of the telomerase reverse transcriptase (TERT) gene are associated with poor outcome and reduced survival in different cancers. Here, subtypes of these mutations were investigated for their impact on survival specifically in melanoma. Among patients with stage I/II melanoma, those with the −138/−139 CC > TT TERT alteration, which occurs primarily in skin cancers, showed the poorest disease‐free and melanoma‐specific survival. The impact on survival was significantly worsened when the −138/−139 CC > TT TERT alteration was combined with BRAF/NRAS mutations. The findings could have implications for melanoma patients treated with MAP‐kinase inhibitors, which interact with BRAF/NRAS signaling networks. [ABSTRACT FROM AUTHOR]

Published
2019
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