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13 results on '"Boni, Jacopo"'

1. Systematic proximal mapping of the classical RAD51 paralogs unravel functionally and clinically relevant interactors for genome stability

Author

Simo Cheyou, Estelle, primary, Boni, Jacopo, additional, Boulais, Jonathan, additional, Pinedo-Carpio, Edgar, additional, Malina, Abba, additional, Sherill-Rofe, Dana, additional, Luo, Vincent M., additional, Goncalves, Christophe, additional, Bagci, Halil, additional, Maters, Alexandra, additional, Cuella-Martin, Raquel, additional, Tabach, Yuval, additional, del Rincon, Sonia, additional, Côté, Jean-Francois, additional, Rivera, Barbara, additional, and Orthwein, Alexandre, additional

Published
2022
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2. Study of breast cancer incidence in patients of lymphangioleiomyomatosis

Author

Nuñez, Olivier, Román, Antonio, Johnson, Simon R., Inoue, Yoshikazu, Hirose, Masaki, Casanova, Álvaro, de Garibay, Gorka Ruiz, Herranz, Carmen, Bueno-Moreno, Gema, Boni, Jacopo, Mateo, Francesca, Petit, Anna, Climent, Fina, Soler, Teresa, Vidal, August, Sánchez-Mut, José Vicente, Esteller, Manel, López, José Ignacio, García, Nadia, Gumà, Anna, Ortega, Raúl, Plà, María Jesús, Campos, Miriam, Ansótegui, Emilio, Molina-Molina, María, Valenzuela, Claudia, Ussetti, Piedad, Laporta, Rosalía, Ancochea, Julio, Xaubet, Antoni, Pollán, Marina, and Pujana, Miguel Angel

Published
2016
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3. A decade of RAD51C and RAD51D germline variants in cancer

Author

Boni, Jacopo, primary, Idani, Aida, additional, Roca, Carla, additional, Feliubadaló, Lidia, additional, Tomiak, Eva, additional, Weber, Evan, additional, Foulkes, William D., additional, Orthwein, Alexandre, additional, El Haffaf, Zaki, additional, Lazaro, Conxi, additional, and Rivera, Barbara, additional

Published
2021
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6. A decade of RAD51C and RAD51D germline variants in cancer.

Author

Boni, Jacopo, Idani, Aida, Roca, Carla, Feliubadaló, Lidia, Tomiak, Eva, Weber, Evan, Foulkes, William D., Orthwein, Alexandre, El Haffaf, Zaki, Lazaro, Conxi, and Rivera, Barbara

Abstract

Defects in DNA repair genes have been extensively associated with cancer susceptibility. Germline pathogenic variants (GPV) in genes involved in homologous recombination repair pathways predispose to cancers arising mainly in the breast and ovary, but also other tissues. The RAD51 paralogs RAD51C and RAD51D were included in this group 10 years ago when germline variants were associated with non‐BRCA1/2 familial ovarian cancer. Here, we have reviewed the landscape of RAD51C and RAD51D germline variants in cancer reported in the literature during the last decade, integrating this list with variants identified by in‐house patient screening. A comprehensive catalog of 341 variants that have been classified applying ACMG/AMP criteria has been generated pinpointing the existence of recurrent variants in both genes. Recurrent variants have been extensively discussed compiling data on population frequencies and functional characterization if available, highlighting variants that have not been fully characterized yet to properly establish their pathogenicity. Finally, we have complemented this data with relevant information regarding the conservation of mutated residues among RAD51 paralogs and modeling of putative hotspot areas, which contributes to generating an exhaustive update on these two cancer predisposition genes. [ABSTRACT FROM AUTHOR]

Published
2022
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7. DYRK1A in cancer: good or evil? : Defining properties of DYRK1A kinase as a novel tumor driver

Author

Boni, Jacopo, 1987, La Luna, Susana de, and Universitat Pompeu Fabra. Departament de Ciències Experimentals i de la Salut

Subjects
Quinasa, Mutación somática, Tumor driver
Abstract

DYRK (dual-specificity tyrosine-regulated kinases) is an evolutionary conserved family of protein kinases involved in the regulation of cellular processes, such as proliferation and survival, which play pivotal role in tumor development. In this Thesis work, the potential role of DYRK genes as tumor drivers has been explored through an extensive analysis of The Cancer Genome Atlas data. DYRKs were found altered in tumor samples at different levels. In particular, the dosage sensitive member DYRK1A emerged as a potential tumor driver. Functional screens on DYRK1A cancer somatic mutations showed that most of the mutants analyzed have a strong impact on the catalytic activity and/or stability of the protein, suggesting that DYRK1A loss-of-function is positively selected in cancer. Reversion, by a CRISPR/Cas9 strategy, of a DYRK1A mutant allele to wt in an endometrial cancer cell line strongly impaired tumor cell growth. The DYRK1A tumor suppressive role was confirmed in vivo using mouse tumor xenografts. Finally, an integrated transcriptomic, proteomic and phospho-proteomic analysis has uncovered potential molecular mechanisms underlying the DYRK1A-mediated tumor driver function. Las proteínas quinasas DYRK (dual-specificity tyrosine-regulated kinases) son una familia evolutivamente conservada que participan en la regulación de procesos celulares con funciones fundamentales en la transformación maligna. En este trabajo de tesis, el papel de los genes DYRK como conductores (drivers) de tumores se ha explorado mediante un extenso análisis de los datos de The Cancer Genome Atlas. El análisis encontró alterados los genes DYRK en muestras de tumores a diferentes niveles, e identificó al miembro de la familia DYRK1A como un potencial gen conductor en un grupo de tumores. Mediante ensayos funcionales se ha demostrado que las mutaciones somáticas de DYRK1A en cáncer investigadas tienen un fuerte impacto en la actividad catalítica y/o la estabilidad de la proteína, lo que sugiere que la perdida de función de DYRK1A se selecciona positivamente en la célula tumoral. La corrección, mediante la técnica CRISPR/Cas9, de una línea celular de cáncer de endometrio mutada en DYRK1A tiene un fuerte impacto en el crecimiento de estas células tumorales, sugiriendo un papel para DYRK1A como supresor de tumores en cáncer de endometrio, que se ha confirmado in vivo en modelos tumorales de xenoinjerto en ratón. Finalmente, un análisis transcriptómico, proteómico y fosfo-proteómico integrado ha desvelado posibles mecanismos moleculares que participan en la función de DYRK1A como supresor tumoral.

Published
2019

8. DYRK1A modulates c-MET in pancreatic ductal adenocarcinoma to drive tumour growth

Author

Agencia Estatal de Investigación (España), Ministerio de Economía y Competitividad (España), Ministerio de Ciencia, Innovación y Universidades (España), Generalitat de Catalunya, Instituto de Salud Carlos III, European Commission, European Cooperation in Science and Technology, Luna, Jeroni, Boni, Jacopo, Cuatrecasas, Miriam, Bofill-De Ros, Xavier, Núñez-Manchón, Estela, Gironella, Meritxell, Vaquero, Eva C., Arbones, Maria L., Luna, Susana de la, Fillat, Cristina, Agencia Estatal de Investigación (España), Ministerio de Economía y Competitividad (España), Ministerio de Ciencia, Innovación y Universidades (España), Generalitat de Catalunya, Instituto de Salud Carlos III, European Commission, European Cooperation in Science and Technology, Luna, Jeroni, Boni, Jacopo, Cuatrecasas, Miriam, Bofill-De Ros, Xavier, Núñez-Manchón, Estela, Gironella, Meritxell, Vaquero, Eva C., Arbones, Maria L., Luna, Susana de la, and Fillat, Cristina

Abstract

[Background and aims]: Pancreatic ductal adenocarcinoma (PDAC) is a very aggressive tumour with a poor prognosis using current treatments. Targeted therapies may offer a new avenue for more effective strategies. Dual-specificity tyrosine regulated kinase 1A (DYRK1A) is a pleiotropic kinase with contradictory roles in different tumours that is uncharacterised in PDAC. Here, we aimed to investigate the role of DYRK1A in pancreatic tumorigenesis. [Design]: We analysed DYRK1A expression in PDAC genetic mouse models and in patient samples. DYRK1A function was assessed with knockdown experiments in pancreatic tumour cell lines and in PDAC mouse models with genetic reduction of Dyrk1a dosage. Furthermore, we explored a mechanistic model for DYRK1A activity. [Results]: We showed that DYRK1A was highly expressed in PDAC, and that its protein level positively correlated with that of c-MET. Inhibition of DYRK1A reduced tumour progression by limiting tumour cell proliferation. DYRK1A stabilised the c-MET receptor through SPRY2, leading to prolonged activation of extracellular signal-regulated kinase signalling. [Conclusions]: These findings reveal that DYRK1A contributes to tumour growth in PDAC, at least through regulation of c-MET accumulation, suggesting that inhibition of DYRK1A could represent a novel therapeutic target for PDAC.

Published
2019

9. Correction: Lymphangioleiomyomatosis Biomarkers Linked to Lung Metastatic Potential and Cell Stemness

Author

Ruiz de Garibay, Gorka, primary, Herranz, Carmen, additional, Llorente, Alicia, additional, Boni, Jacopo, additional, Serra-Musach, Jordi, additional, Mateo, Francesca, additional, Aguilar, Helena, additional, Gómez-Baldó, Laia, additional, Petit, Anna, additional, Vidal, August, additional, Climent, Fina, additional, Hernández-Losa, Javier, additional, Cordero, Álex, additional, González-Suárez, Eva, additional, Sánchez-Mut, José Vicente, additional, Esteller, Manel, additional, Llatjós, Roger, additional, Varela, Mar, additional, López, José Ignacio, additional, García, Nadia, additional, Extremera, Ana I., additional, Gumà, Anna, additional, Ortega, Raúl, additional, Plà, María Jesús, additional, Fernández, Adela, additional, Pernas, Sònia, additional, Falo, Catalina, additional, Morilla, Idoia, additional, Campos, Miriam, additional, Gil, Miguel, additional, Román, Antonio, additional, Molina-Molina, María, additional, Ussetti, Piedad, additional, Laporta, Rosalía, additional, Valenzuela, Claudia, additional, Ancochea, Julio, additional, Xaubet, Antoni, additional, Casanova, Álvaro, additional, and Pujana, Miguel Angel, additional

Published
2018
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12. Lymphangioleiomyomatosis Biomarkers Linked to Lung Metastatic Potential and Cell Stemness

Author

Especialidades médico-quirúrgicas, Medikuntza eta kirurgia espezialitateak, Ruiz de Garibay, Gorka, Herranz, Carmen, Llorente, Alicia, Boni, Jacopo, Serra- Musach, Jordi, Mateo, Francesca, Aguilar, Helena, Gómez-Baldó, Laia, Petit, Anna, Vidal, August, Climent, Fina, Hernández-Losa, Javier, Cordero, Álex, González- Suárez, Eva, Sánchez-Mut, José Vicente, Esteller, Manel, Llatjós, Roger, Varela, Mar, López Fernández de Villaverde, José Ignacio, García, Nadia, Extremera, Ana I., Gumà, Anna, Ortega, Raúl, Plà, María Jesús, Fernández, Adela, Pernas, Sònia, Falo, Catalina, Morilla, Idoia, Campos, Miriam, Gil, Miguel, Román, Antonio, Molina-Molina, María, Ussetti, Piedad, Laporta, Rosalía, Valenzuela, Claudia, Ancochea, Julio, Xaubet, Antoni, Casanova, Álvaro, Pujana, Miguel Angel, Especialidades médico-quirúrgicas, Medikuntza eta kirurgia espezialitateak, Ruiz de Garibay, Gorka, Herranz, Carmen, Llorente, Alicia, Boni, Jacopo, Serra- Musach, Jordi, Mateo, Francesca, Aguilar, Helena, Gómez-Baldó, Laia, Petit, Anna, Vidal, August, Climent, Fina, Hernández-Losa, Javier, Cordero, Álex, González- Suárez, Eva, Sánchez-Mut, José Vicente, Esteller, Manel, Llatjós, Roger, Varela, Mar, López Fernández de Villaverde, José Ignacio, García, Nadia, Extremera, Ana I., Gumà, Anna, Ortega, Raúl, Plà, María Jesús, Fernández, Adela, Pernas, Sònia, Falo, Catalina, Morilla, Idoia, Campos, Miriam, Gil, Miguel, Román, Antonio, Molina-Molina, María, Ussetti, Piedad, Laporta, Rosalía, Valenzuela, Claudia, Ancochea, Julio, Xaubet, Antoni, Casanova, Álvaro, and Pujana, Miguel Angel

Abstract

Lymphangioleiomyomatosis (LAM) is a rare lung-metastasizing neoplasm caused by the proliferation of smooth muscle-like cells that commonly carry loss-of-function mutations in either the tuberous sclerosis complex 1 or 2 (TSC1 or TSC2) genes. While allosteric inhibition of the mechanistic target of rapamycin (mTOR) has shown substantial clinical benefit, complementary therapies are required to improve response and/or to treat specific patients. However, there is a lack of LAM biomarkers that could potentially be used to monitor the disease and to develop other targeted therapies. We hypothesized that the mediators of cancer metastasis to lung, particularly in breast cancer, also play a relevant role in LAM. Analyses across independent breast cancer datasets revealed associations between low TSC1/2 expression, altered mTOR complex 1 (mTORC1) pathway signaling, and metastasis to lung. Subsequently, immunohistochemical analyses of 23 LAM lesions revealed positivity in all cases for the lung metastasis mediators fascin 1 (FSCN1) and inhibitor of DNA binding 1 (ID1). Moreover, assessment of breast cancer stem or luminal progenitor cell biomarkers showed positivity in most LAM tissue for the aldehyde dehydrogenase 1 (ALDH1), integrin-beta 3 (ITGB3/CD61), and/or the sex-determining region Y-box 9 (SOX9) proteins. The immunohistochemical analyses also provided evidence of heterogeneity between and within LAM cases. The analysis of Tsc2-deficient cells revealed relative over-expression of FSCN1 and ID1; however, Tsc2-deficient cells did not show higher sensitivity to ID1-based cancer inhibitors. Collectively, the results of this study reveal novel LAM biomarkers linked to breast cancer metastasis to lung and to cell stemness, which in turn might guide the assessment of additional or complementary therapeutic opportunities for LAM.

Published
2015

13. Lymphangioleiomyomatosis Biomarkers Linked to Lung Metastatic Potential and Cell Stemness

Author

Ruiz de Garibay, Gorka, primary, Herranz, Carmen, additional, Llorente, Alicia, additional, Boni, Jacopo, additional, Serra-Musach, Jordi, additional, Mateo, Francesca, additional, Aguilar, Helena, additional, Gómez-Baldó, Laia, additional, Petit, Anna, additional, Vidal, August, additional, Climent, Fina, additional, Hernández-Losa, Javier, additional, Cordero, Álex, additional, González-Suárez, Eva, additional, Sánchez-Mut, José Vicente, additional, Esteller, Manel, additional, Llatjós, Roger, additional, Varela, Mar, additional, López, José Ignacio, additional, García, Nadia, additional, Extremera, Ana I., additional, Gumà, Anna, additional, Ortega, Raúl, additional, Plà, María Jesús, additional, Fernández, Adela, additional, Pernas, Sònia, additional, Falo, Catalina, additional, Morilla, Idoia, additional, Campos, Miriam, additional, Gil, Miguel, additional, Román, Antonio, additional, Molina-Molina, María, additional, Ussetti, Piedad, additional, Laporta, Rosalía, additional, Valenzuela, Claudia, additional, Ancochea, Julio, additional, Xaubet, Antoni, additional, Casanova, Álvaro, additional, and Pujana, Miguel Angel, additional

Published
2015
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