The potential benefit of encorafenib plus cetuximab with chemotherapy compared with standard of care in people with BRAF V600E-mutant metastatic colorectal cancer in the BREAKWATER study: a plain language summary

Authors: Kopetz, Scott, Yoshino, Takayuki, Van Cutsem, Eric, Eng, Cathy, Kim, Tae Won, Wasan, Harpreet Singh, Desai, Jayesh, Ciardiello, Fortunato, Yaeger, Rona, Maughan, Timothy S., Beyzarov, Elena, Zhang, Xiaoxi, Ferrier, Graham, Zhang, Xiaosong, Tabernero, Josep

Contributors: Institut Català de la Salut, [Kopetz S] University of Texas MD Anderson Cancer Center, Houston, TX, USA. [Yoshino T] National Cancer Center Hospital East, Kashiwa, Japan. [Van Cutsem E] University Hospitals Gasthuisberg Leuven and KU Leuven, Leuven, Belgium. [Eng C] Vanderbilt-Ingram Cancer Center, Nashville, TN, USA. [Kim TW] Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea. [Wasan HS] Hammersmith Hospital, Division of Cancer, Imperial College London, London, UK. [Tabernero J] Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. University of Vic – Central University of Catalonia, Vic, Spain, Vall d'Hebron Barcelona Hospital Campus

Source: Future Oncol
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname

Subject Terms: FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Other subheadings::Other subheadings::Other subheadings::/drug therapy, Anticossos monoclonals - Ús terapèutic, DISEASES::Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Intestinal Neoplasms::Colorectal Neoplasms, Other subheadings::Other subheadings::/therapeutic use, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapéutica::farmacoterapia::protocolos antineoplásicos::terapéutica::farmacoterapia::protocolos de quimioterapia antineoplásica combinada, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Therapeutics::Drug Therapy::Antineoplastic Protocols::Therapeutics::Drug Therapy::Antineoplastic Combined Chemotherapy Protocols, CHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Proteins::Blood Proteins::Immunoproteins::Immunoglobulins::Antibodies::Antibodies, Monoclonal, Otros calificadores::Otros calificadores::/uso terapéutico, Quimioteràpia combinada, Còlon - Càncer - Tractament, Anomalies cromosòmiques, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias intestinales::neoplasias colorrectales, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, COMPUESTOS QUÍMICOS Y DROGAS::aminoácidos, péptidos y proteínas::proteínas::proteínas sanguíneas::inmunoproteínas::inmunoglobulinas::anticuerpos::anticuerpos monoclonales, Recte - Càncer - Tractament, Plain Language Summary of Publication

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/40391894
http://hdl.handle.net/11351/13399

A plain language summary of the molecular changes in the tumors of people with BRAF V600E–mutant colorectal cancer in the BEACON study

Authors: Kopetz, Scott, Murphy, Danielle A., Pu, Jie, Ciardiello, Fortunato, Desai, Jayesh, Van Cutsem, Eric, Wasan, Harpreet Singh, Yoshino, Takayuki, Saffari, Hedieh, Zhang, Xiaosong, Hamilton, Phineas, Xie, Tao, Yaeger, Rona, Tabernero, Josep

Contributors: Institut Català de la Salut, [Kopetz S] University of Texas MD Anderson Cancer Center, Houston, TX, USA. [Murphy DA] Formerly Pfizer, La Jolla, CA, USA. [Pu J] Formerly Pfizer, New York, NY, USA. [Ciardiello F] University of Campania Luigi Vanvitelli, Naples, Italy. [Desai J] Peter MacCallum Cancer Centre, Melbourne, VIC, Australia. [Van Cutsem E] University Hospitals Gasthuisberg Leuven and KU Leuven, Leuven, Belgium. [Tabernero J] Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. University of Vic – Central University of Catalonia, Vic, Spain, Vall d'Hebron Barcelona Hospital Campus

Source: Future Oncol
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname

Subject Terms: Còlon - Càncer - Tractament, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Anomalies cromosòmiques, Other subheadings::Other subheadings::Other subheadings::/drug therapy, DISEASES::Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Intestinal Neoplasms::Colorectal Neoplasms, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias intestinales::neoplasias colorrectales, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Recte - Càncer - Tractament, Plain Language Summary of Publication

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/40340632
http://hdl.handle.net/11351/13370

Amivantamab Plus Lazertinib in Patients With EGFR-Mutant NSCLC After Progression on Osimertinib and Platinum-Based Chemotherapy: Results From CHRYSALIS-2 Cohort A

Authors: Benjamin Besse, Koichi Goto, Yongsheng Wang, Se-Hoon Lee, Melina E. Marmarelis, Yuichiro Ohe, Reyes Bernabe Caro, Dong-Wan Kim, Jong-Seok Lee, Sophie Cousin, Eiki Ichihara, Yongsheng Li, Luis Paz-Ares, Akira Ono, Rachel E. Sanborn, Naohiro Watanabe, Maria Jose de Miguel, Carole Helissey, Catherine A. Shu, Alexander I. Spira, Pascale Tomasini, James Chih-Hsin Yang, Yiping Zhang, Enriqueta Felip, Frank Griesinger, Saiama N. Waqar, Antonio Calles, Joel W. Neal, Christina S. Baik, Pasi A. Jänne, S. Martin Shreeve, Joshua C. Curtin, Bharvin Patel, Michael Gormley, Xuesong Lyu, Jun Chen, Pei-Ling Chu, Janine Mahoney, Leonardo Trani, Joshua M. Bauml, Meena Thayu, Roland E. Knoblauch, Byoung Chul Cho

Contributors: Institut Català de la Salut, [Besse B] Paris-Saclay University, Institut Gustave Roussy, Villejuif, France. [Goto K] National Cancer Center Hospital East, Kashiwa, Japan. [Wang Y] Institute of Clinical Trial Center and Cancer Center, West China Hospital, Sichuan University, Chengdu, People's Republic of China. [Lee SH] Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Republic of Korea. [Marmarelis ME] University of Pennsylvania, Perelman School of Medicine, Philadelphia, Pennsylvania. [Ohe Y] National Cancer Center Hospital, Tokyo, Japan. [Felip E] Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus

Source: Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname

Subject Terms: Pulmons - Càncer - Prognosi, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Other subheadings::Other subheadings::Other subheadings::/drug therapy, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapéutica::farmacoterapia::protocolos antineoplásicos::terapéutica::farmacoterapia::protocolos de quimioterapia antineoplásica combinada, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Therapeutics::Drug Therapy::Antineoplastic Protocols::Therapeutics::Drug Therapy::Antineoplastic Combined Chemotherapy Protocols, DISEASES::Neoplasms::Neoplasms by Site::Thoracic Neoplasms::Respiratory Tract Neoplasms::Lung Neoplasms::Bronchial Neoplasms::Carcinoma, Bronchogenic::Carcinoma, Non-Small-Cell Lung, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias torácicas::neoplasias del tracto respiratorio::neoplasias pulmonares::neoplasias de los bronquios::carcinoma broncogénico::carcinoma de pulmón de células no pequeñas, Quimioteràpia combinada, Anomalies cromosòmiques, ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::progresión de la enfermedad, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Pulmons - Càncer - Tractament, DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Progression

File Description: application/pdf

Access URL: http://hdl.handle.net/11351/13380

Actionable NSCLC Mutation Identification by Comprehensive Genomic Profiling for Clinical Trial Enrollment: The European Program for the Routine Testing of Patients With Advanced Lung Cancer (EPROPA)

Authors: Passiglia, Francesco, Listì, Angela, Bironzo, Paolo, Merlini, Alessandra, Benso, Federica, Napoli, Francesca, Barbu, Francesca Alice, Zambelli, Vanessa, Tabbò, Fabrizio, Reale, Maria Lucia, Sini, Claudio, Roca, Elisa, Taveggia, Paola Adriana, Simionato, Francesca, Buffoni, Lucio, Mazilu, Laura, Barbieri, Vito, Pignataro, Daniele, Araujo, Antonio, Paz-Ares, Luis, Felip, Enriqueta, Secen, Nevena, Comanescu, Alina, Ramizi, Kleida Mati, Bettini, Anna Cecilia, Scotti, Vieri, Linardou, Helena, Mohorcic, Katja, Meoni, Giulia, Giannarelli, Diana, Volante, Marco, Malapelle, Umberto, Vallone, Stefania, Scagliotti, Giorgio, Righi, Luisella, Novello, Silvia

Contributors: Institut Català de la Salut, [Passiglia F, Listì A, Bironzo P, Merlini A, Benso F, Napoli F] Department of Oncology, University of Turin, S. Luigi Gonzaga Hospital, Orbassano, Turin, Italy. [Felip E] Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

Source: Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname

Subject Terms: Male, Adult, Other subheadings::Other subheadings::Other subheadings::/genetics, Lung Neoplasms, biomarker testing, Pulmons - Càncer - Aspectes genètics, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::medicina de precisión, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Carcinoma, Non-Small-Cell Lung, Humans, Medicina personalitzada, Aged, Aged, 80 and over, advocacy, clinical trials, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Clinical Trials as Topic, Precision medicine, Middle Aged, targeted therapy, DISEASES::Neoplasms::Neoplasms by Site::Thoracic Neoplasms::Respiratory Tract Neoplasms::Lung Neoplasms::Bronchial Neoplasms::Carcinoma, Bronchogenic::Carcinoma, Non-Small-Cell Lung, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias torácicas::neoplasias del tracto respiratorio::neoplasias pulmonares::neoplasias de los bronquios::carcinoma broncogénico::carcinoma de pulmón de células no pequeñas, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Precision Medicine, Europe, lung cancer, Anomalies cromosòmiques, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Mutation, Female

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39694416
http://hdl.handle.net/11351/13106
https://hdl.handle.net/11588/992612
https://hdl.handle.net/2318/2043713
https://doi.org/10.1016/j.jtho.2024.12.010

Mutations in the small nuclear RNA gene RNU2-2 cause a severe neurodevelopmental disorder with prominent epilepsy

Authors: Daniel Greene, Koenraad De Wispelaere, Jon Lees, Marta Codina-Solà, Brynjar O. Jensson, Emma Hales, Andrea Katrinecz, Esther Nieto Molina, Sonia Pascoal, Rolph Pfundt, Rachel Schot, Marta Sevilla Porras, Frank Sleutels, Irene Valenzuela, Robin Wijngaard, Ignacio Arroyo Carrera, Giles Atton, Didac Casas-Alba, Deirdre Donnelly, Anna Duat Rodríguez, Bárbara Fernández Garoz, Nicola Foulds, Deyanira García-Navas Núñez, Elena González Alguacil, Joanna Jarvis, Sarina G. Kant, Irene Madrigal Bajo, Antonio F. Martinez-Monseny, Shane McKee, Nelmar Valentina Ortiz Cabrera, Laia Rodríguez-Revenga Bodi, Andrea Sariego Jamardo, Kari Stefansson, Patrick Sulem, Mohnish Suri, Clara Van Karnebeek, Pradeep Vasudevan, Ana Isabel Vega Pajares, Ángel Carracedo, Marc Engelen, Pablo Lapunzina, Natasha P. Morgan, Beatriz Morte, Patrick Rump, Kathy Stirrups, Eduardo F. Tizzano, Tahsin Stefan Barakat, Michael O’Donoghue, Luis Alberto Pérez-Jurado, Kathleen Freson, Andrew D. Mumford, Ernest Turro

Contributors: Institut Català de la Salut, [Greene D] Department of Medicine, University of Cambridge, Cambridge, UK. Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. [De Wispelaere K] Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY, USA. Department of Cardiovascular Sciences, Center for Molecular and Vascular Biology, KU Leuven, Leuven, Belgium. [Lees J] Bristol Medical School, University of Bristol, Bristol, UK. [Codina-Solà M, Valenzuela I] Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Jensson BO] deCODE genetics/Amgen Inc., Reykjavik, Iceland. [Hales E] NIHR BioResource, Cambridge University Hospitals, Cambridge, UK. Department of Haematology, School of Clinical Medicine, University of Cambridge, Cambridge, UK, Vall d'Hebron Barcelona Hospital Campus, Apollo - University of Cambridge Repository

Source: Nat Genet
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Nature Genetics, 57, 6, pp. 1367-1373

Subject Terms: Male, Letter, U2, Adolescent, 3001 Agricultural biotechnology, SNRNA, PSIQUIATRÍA Y PSICOLOGÍA::trastornos mentales::trastornos del desarrollo neurológico, SPLICEOSOME, CHEMICALS AND DRUGS::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::RNA::RNA, Nuclear::RNA, Small Nuclear, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades cerebrales::epilepsia, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Brain Diseases::Epilepsy, 3105 Genetics, U6, DEVELOPMENTAL DISORDER, RNA, Small Nuclear, Intellectual Disability, Humans, Child, Germ-Line Mutation, 11 Medical and Health Sciences, Genetics & Heredity, COMPUESTOS QUÍMICOS Y DROGAS::nucleótidos y nucleósidos de ácidos nucleicos::ácidos nucleicos::ARN::ARN nuclear::ARN nuclear pequeño, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Science & Technology, Epilepsy, ASSOCIATION, 06 Biological Sciences, COMPONENT, Epilèpsia, Anomalies cromosòmiques, Neurodevelopmental Disorders, Child, Preschool, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Mutation, Microcephaly, Human Genetics - Development and lifelong plasticity, 3102 Bioinformatics and computational biology, RNA, Female, PATHOGENIC VARIANTS, Malalties mentals, Life Sciences & Biomedicine, Pseudogenes, PSYCHIATRY AND PSYCHOLOGY::Mental Disorders::Neurodevelopmental Disorders, Developmental Biology

File Description: application/pdf; text/xml; application/zip

Access URL: https://pubmed.ncbi.nlm.nih.gov/40210679
http://hdl.handle.net/11351/13372
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/320178
https://hdl.handle.net/11370/27c121bb-73e6-4f5d-9fc9-f3c9c3c36926
https://doi.org/10.1038/s41588-025-02159-5
https://research.rug.nl/en/publications/27c121bb-73e6-4f5d-9fc9-f3c9c3c36926
https://hdl.handle.net/2066/320178
https://repository.ubn.ru.nl//bitstream/handle/2066/320178/320178.pdf
https://www.repository.cam.ac.uk/handle/1810/385609
https://doi.org/10.1038/s41588-025-02159-5

Sotorasib versus docetaxel for previously treated KRAS G12C–mutated non–small–cell lung cancer: a plain language summary: a plain language summary

Authors: de Langen, Adrianus Johannes, Johnson, Melissa L., Mazieres, Julien, Dingemans, Anne-Marie C., Mountzios, Giannis, Pless, Miklos, Wolf, Juergen, Schuler, Martin, Lena, Herve, Skoulidis, Ferdinandos, Yoneshima, Yasuto, Kim, Sang-We, Linardou, Helena, Novello, Silvia, van der Wekken, Anthonie J., Chen, Yuanbin, Peters, Solange, Felip, Enriqueta, Solomon, Benjamin J., Ramalingam, Suresh S., Dooms, Christophe, Lindsay, Colin R., Ferreira, Carlos Gil, Blais, Normand, Obiozor, Cynthia C., Wang, Yang, Mehta, Bhakti, Varrieur, Tracy, Ngarmchamnanrith, Gataree, Stollenwerk, Bjoern, Waterhouse, David, Paz-Ares, Luis

Contributors: Institut Català de la Salut, [de Langen AJ] Netherlands Cancer Institute, Amsterdam, The Netherlands. [Johnson ML] Sarah Cannon Research Institute at Tennessee Oncology, Nashville, TN, USA. [Mazieres J] Centre Hospitalier Universitaire de Toulouse, Toulouse, France. [Dingemans AMC] Erasmus MC Cancer Institute, University Medical Center, Rotterdam, The Netherlands. [Mountzios G] Henry Dunant Hospital Center, Athens, Greece. [Pless M] Kantonsspital Winterthur, Winterthur, Switzerland. [Felip E] Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, CodeBreaK 200 Investigators

Source: Future Oncol
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Future oncology, vol. 21, no. 9, pp. 1033-1044
CodeBreaK 200 Investigators 2025, 'Sotorasib versus docetaxel for previously treated KRAS G12C–mutated non–small–cell lung cancer : a plain language summary', Future Oncology, vol. 21, no. 9, pp. 1033-1044. https://doi.org/10.1080/14796694.2025.2474789

Subject Terms: Other subheadings::Other subheadings::/therapeutic use, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, Otros calificadores::Otros calificadores::/uso terapéutico, Medicaments antineoplàstics - Ús terapèutic, Pulmons - Càncer - Aspectes genètics, CodeBreaK 200 Investigators, SDG 3 - Good Health and Well-being, 3211 Oncology and carcinogenesis, 1112 Oncology and Carcinogenesis, Oncology & Carcinogenesis, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Science & Technology, Other subheadings::Other subheadings::Other subheadings::/drug therapy, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome, DISEASES::Neoplasms::Neoplasms by Site::Thoracic Neoplasms::Respiratory Tract Neoplasms::Lung Neoplasms::Bronchial Neoplasms::Carcinoma, Bronchogenic::Carcinoma, Non-Small-Cell Lung, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias torácicas::neoplasias del tracto respiratorio::neoplasias pulmonares::neoplasias de los bronquios::carcinoma broncogénico::carcinoma de pulmón de células no pequeñas, Anomalies cromosòmiques, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento, Oncology, COMPUESTOS QUÍMICOS Y DROGAS::acciones y usos químicos::acciones farmacológicas::usos terapéuticos::antineoplásicos, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Plain Language Summary of Publication, Avaluació de resultats (Assistència sanitària), Life Sciences & Biomedicine, Pulmons - Càncer - Tractament, Sotorasib versus docetaxel, KRAS, G12C–mutated, non–small–cell lung cancer, CHEMICALS AND DRUGS::Chemical Actions and Uses::Pharmacologic Actions::Therapeutic Uses::Antineoplastic Agents

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/40129223
http://hdl.handle.net/11351/13017
https://serval.unil.ch/notice/serval:BIB_EAE065A82BB7
https://serval.unil.ch/resource/serval:BIB_EAE065A82BB7.P001/REF.pdf
http://nbn-resolving.org/urn/resolver.pl?urn=urn:nbn:ch:serval-BIB_EAE065A82BB70
http://www.scopus.com/inward/record.url?scp=105002047840&partnerID=8YFLogxK
https://doi.org/10.1080/14796694.2025.2474789
https://research.manchester.ac.uk/en/publications/3c62fc1c-bb89-423b-9e50-72495334495b

Different Mutational Profiles of Subcutaneous Panniculitis-like T-cell Lymphoma and Lupus Panniculitis: An Additional Case Series

Authors: Machan S, Rodríguez M, Manso R, Borregón J, Chamizo C, Alonso-Alonso R, Rodríguez-Peralto JL, Torres Nieto MÁ, Monteagudo C, García Toro E, Cerroni L, García C, Estrach T, García Herrera A, Ferrer B, García-Patos V, Segues N, Díaz de la Pinta FJ, Afonso-Martin JL, Peñate Y, Limeres-Gonzalez MÁ, González-Núñez MÁ, González-Cruz C, García Fernández E, Cereceda L, Minguez P, de la Fuente L, Requena L, Rodríguez-Pinilla SM

Contributors: Institut Català de la Salut, [Machan S] Department of Dermatology, Fundación Jiménez Díaz-IIS, Universidad Autónoma de Madrid, Madrid, Spain. [Rodríguez M, Manso R, Borregón J, Chamizo C, Alonso-Alonso R] Department of Pathology, Fundación Jiménez Díaz-IIS, Universidad Autónoma de Madrid, Madrid, Spain. CIBERONC (Centro de Investigación Biomédica en Red de Cáncer), Spain. [Ferrer B, García-Patos V, González-Cruz C] Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

Source: Actas Dermo-Sifiliograficas
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instname
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut

Subject Terms: FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Linfoma de células T tipo paniculitis subcutánea, Other subheadings::Other subheadings::Other subheadings::/genetics, DISEASES::Skin and Connective Tissue Diseases::Connective Tissue Diseases::Lupus Erythematosus, Cutaneous::Lupus Erythematosus, Discoid::Panniculitis, Lupus Erythematosus, Malalties autoimmunitàries, Lupus-paniculitis, Cèl·lules T - Tumors, ENFERMEDADES::enfermedades de la piel y tejido conjuntivo::enfermedades del tejido conjuntivo::lupus eritematoso cutáneo::lupus eritematoso discoide::paniculitis de lupus eritematoso, Secuenciación de próxima generación, Anomalies cromosòmiques, Lupus eritematós, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Subcutaneous panniculitis-like T-cell lymphoma, ENFERMEDADES::neoplasias::neoplasias por tipo histológico::linfoma::linfoma no Hodgkin::linfoma de células T, Lupus panniculitis, Next-generation sequencing, DNMT3A, TP53, DISEASES::Neoplasms::Neoplasms by Histologic Type::Lymphoma::Lymphoma, Non-Hodgkin::Lymphoma, T-Cell, HAVCR2

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39566728
https://pubmed.ncbi.nlm.nih.gov/39032781
https://incliva.fundanetsuite.com/publicaciones/ProdCientif/PublicacionFrw.aspx?id=19082
http://hdl.handle.net/11351/12775

Genomic Profiling of Extensive Stage Small-Cell Lung Cancer Patients Identifies Molecular Factors Associated with Survival

Authors: Canale, Matteo, Urbini, Milena, Petracci, Elisabetta, Angeli, Davide, Tedaldi, Gianluca, Priano, Ilaria, Cravero, Paola, Flospergher, Michele, Andrikou, Kalliopi, Bennati, Chiara, Tassinari, Davide, Dubini, Alessandra, Rossi, Giulio, Panzacchi, Riccardo, Valli, Mirca, Bronte, Giuseppe, Crinò, Lucio, Delmonte, Angelo, Ulivi, Paola

Contributors: Institut Català de la Salut, [Canale M, Urbini M, Tedaldi G] Biosciences Laboratory, IRCCS Istituto Romagnolo per Lo Studio Dei Tumori (IRST) 'dino Amadori', Meldola, Italy. [Petracci E, Angeli D] Unit of Biostatistics and Clinical Trials, IRCCS Istituto Romagnolo per lo Studio dei Tumori (IRST) 'Dino Amadori', Meldola, Italy. [Priano I] Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

Source: Lung Cancer (Auckl)
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Lung Cancer: Targets and Therapy, Vol Volume 16, Pp 11-23 (2025)

Subject Terms: Pulmons - Càncer - Prognosi, CHEMICALS AND DRUGS::Biological Factors::Biomarkers::Biomarkers, Tumor, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapéutica::farmacoterapia::protocolos antineoplásicos::terapéutica::farmacoterapia::protocolos de quimioterapia antineoplásica combinada, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Therapeutics::Drug Therapy::Antineoplastic Protocols::Therapeutics::Drug Therapy::Antineoplastic Combined Chemotherapy Protocols, COMPUESTOS QUÍMICOS Y DROGAS::factores biológicos::biomarcadores::marcadores tumorales, Pulmons - Càncer - Aspectes genètics, tumor mutation burden, Quimioteràpia combinada, predictive biomarkers, patients prognosis, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias torácicas::neoplasias del tracto respiratorio::neoplasias pulmonares::neoplasias de los bronquios::carcinoma broncogénico::carcinoma pulmonar de células pequeñas, small-cell lung cancer, DISEASES::Neoplasms::Neoplasms by Site::Thoracic Neoplasms::Respiratory Tract Neoplasms::Lung Neoplasms::Bronchial Neoplasms::Carcinoma, Bronchogenic::Small Cell Lung Carcinoma, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico, immunotherapy, RC254-282, Original Research, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Other subheadings::Other subheadings::Other subheadings::/drug therapy, Marcadors tumorals, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Anomalies cromosòmiques, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis, Pulmons - Càncer - Tractament

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39995768
http://hdl.handle.net/11351/12987
https://doaj.org/article/c149c2adbed54307838a41d3a5979200
https://www.dovepress.com/genomic-profiling-of-extensive-stage-small-cell-lung-cancer-patients-i-peer-reviewed-fulltext-article-LCTT
https://doi.org/10.2147/LCTT.S492825
https://hdl.handle.net/11585/1013855

Multiple phenotypes and epigenetic profiles in a three-generation family history with GATA2 deficiency

Authors: Damia Romero-Moya, Joan Pera, Oskar Marin-Bejar, Eric Torralba-Sales, Laura Murillo-Sanjuán, Cristina Diaz-de-Heredia, Julia Montoro, Javier Rodríguez-Ubreva, Alessandro Liquori, José Cervera, Marcin W. Wlodarski, Albert Català, Alessandra Giorgetti

Contributors: Institut Català de la Salut, [Romero-Moya D, Torralba-Sales E] Regenerative Medicine Program, Institut d’Investigació Biomèdica de Bellvitge (IDIBELL), Barcelona, Spain. [Pera J] Regenerative Medicine Program, Institut d’Investigació Biomèdica de Bellvitge (IDIBELL), Barcelona, Spain. Department of Hematology and Oncology, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Deu, Barcelona, Spain. [Marin-Bejar O] Regenerative Medicine Program, Institut d’Investigació Biomèdica de Bellvitge (IDIBELL), Barcelona, Spain. Germans Trias i Pujol Health Science Research Institute (IGTP), Cancer Program, Badalona, Spain. [Murillo-Sanjuán L, Diaz-de-Heredia C] Servei d’Hematologia i Oncologia Pediàtriques, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Montoro J] Servei d’Hematologia, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

Source: Leukemia
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Articles publicats en revistes (Patologia i Terapèutica Experimental)
Dipòsit Digital de la UB
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)

Subject Terms: DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases, Other subheadings::Other subheadings::Other subheadings::/genetics, Letter, Malalties immunològiques - Aspectes genètics, PHENOMENA AND PROCESSES::Genetic Phenomena::Genotype, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::deficiencia de GATA2, Otros calificadores::Otros calificadores::Otros calificadores::/genética, FENÓMENOS Y PROCESOS::fenómenos genéticos::fenotipo, FENÓMENOS Y PROCESOS::fenómenos genéticos::genotipo, PHENOMENA AND PROCESSES::Genetic Phenomena::Phenotype, Genotip, ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::susceptibilidad a enfermedades::predisposición genética a la enfermedad, Mutació (Biologia), Proteins, Mutation (Biology), DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::GATA2 Deficiency, Epigenètica, DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease, Fenotip, Anomalies cromosòmiques, Sang - Malalties - Aspectes genètics, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Epigenetics, Malalties congènites, Proteïnes

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39890964
http://hdl.handle.net/11351/12966
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=23164
https://hdl.handle.net/2445/218994
https://fundanet.igtp.cat/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=15597

Encorafenib, cetuximab and chemotherapy in BRAF-mutant colorectal cancer: a randomized phase 3 trial

Authors: Scott Kopetz, Takayuki Yoshino, Eric Van Cutsem, Cathy Eng, Tae Won Kim, Harpreet Singh Wasan, Jayesh Desai, Fortunato Ciardiello, Rona Yaeger, Timothy S. Maughan, Elena Beyzarov, Xiaoxi Zhang, Graham Ferrier, Xiaosong Zhang, Josep Tabernero

Contributors: Institut Català de la Salut, [Kopetz S] University of Texas MD Anderson Cancer Center, Houston, TX, USA. [Yoshino T] National Cancer Center Hospital East, Kashiwa, Japan. [Van Cutsem E] University Hospitals Gasthuisberg Leuven and KU Leuven, Leuven, Belgium. [Eng C] Vanderbilt-Ingram Cancer Center, Nashville, TN, USA. [Kim TW] Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea. [Wasan HS] Hammersmith Hospital, Division of Cancer, Imperial College London, London, UK. [Tabernero J] Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Universitat de Vic - Universitat Central de Catalunya, Vic, Spain, Vall d'Hebron Barcelona Hospital Campus

Source: Nat Med
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname

Subject Terms: Male, Organoplatinum Compounds, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapéutica::farmacoterapia::protocolos antineoplásicos::terapéutica::farmacoterapia::protocolos de quimioterapia antineoplásica combinada, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, Leucovorin, Cetuximab, Research & Experimental Medicine, Còlon - Càncer - Tractament, Antineoplastic Combined Chemotherapy Protocols, MUTATION, 11 Medical and Health Sciences, PLUS CETUXIMAB, Aged, 80 and over, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Sulfonamides, Other subheadings::Other subheadings::Other subheadings::/drug therapy, Middle Aged, Progression-Free Survival, Medicine, Research & Experimental, Female, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico::resultado del tratamiento::supervivencia libre de progresión, Fluorouracil, Colorectal Neoplasms, Life Sciences & Biomedicine, Proto-Oncogene Proteins B-raf, Adult, Biochemistry & Molecular Biology, DISEASES::Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Intestinal Neoplasms::Colorectal Neoplasms, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Therapeutics::Drug Therapy::Antineoplastic Protocols::Therapeutics::Drug Therapy::Antineoplastic Combined Chemotherapy Protocols, BEVACIZUMAB, Immunology, INHIBITION, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis::Treatment Outcome::Progression-Free Survival, Quimioteràpia combinada, Article, LEUCOVORIN, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias intestinales::neoplasias colorrectales, Recte - Càncer - Tractament, Humans, COMBINATION, Aged, Science & Technology, 42 Health sciences, Cell Biology, 32 Biomedical and clinical sciences, FLUOROURACIL, 1ST-LINE TREATMENT, Anomalies cromosòmiques, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Mutation, Avaluació de resultats (Assistència sanitària), Carbamates

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39863775
http://hdl.handle.net/11351/13038

AML typical mutations (CEBPA, FLT3, NPM1) identify a high-risk chronic myelomonocytic leukemia independent of CPSS molecular

Authors: Sandra Castaño-Díez, Mònica López-Guerra, Inés Zugasti, Xavier Calvo, Felicitas Isabel Schulz, Alejandro Avendaño, Elvira Mora, José Falantes, Gemma Azaceta, Mariam Ibáñez, Tzu Chen, Cristina Notario, Neus Amer, Laura Palomo, Helena Pomares, Jordi Vila, Teresa Bernal del Castillo, Carlos Jiménez-Vicente, Daniel Esteban, Francesca Guijarro, José Álamo, Albert Cortés-Bullich, Víctor Torrecillas-Mayayo, Ana Triguero, Lucía Mont-de Torres, Ester Carcelero, Aina Cardús, Ulrich Germing, Beate Betz, Maria Rozman, Leonor Arenillas, Lurdes Zamora, María Díez-Campelo, Blanca Xicoy, Jordi Esteve, Marina Díaz-Beyá

Contributors: Institut Català de la Salut, [Castaño-Díez S] Department of Hematopathology, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain. Grupo Español de Síndromes Mielodisplásicos, Madrid, Spain. [López-Guerra M] Department of Hematopathology, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Barcelona, Spain. Centro de Investigación Biomédica en Red de Cáncer, Madrid, Spain. [Zugasti I] Grupo Español de Síndromes Mielodisplásicos, Madrid, Spain. Department of Hematology, Hospital Clínic de Barcelona, Institut d'Investigacions Biomèdiques August Pi i Sunyer, Spain. [Calvo X] Grupo Español de Síndromes Mielodisplásicos, Madrid, Spain. Department of Hematology, Hospital del Mar, Barcelona, Spain. [Schulz FI] Department of Hematology, Oncology and Clinical Immunology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University Düsseldorf, Düsseldorf, Germany. [Avendaño A] Grupo Español de Síndromes Mielodisplásicos, Madrid, Spain. Department of Hematology, Hospital Universitario de Salamanca, Spain. [Palomo L] Grupo Español de Síndromes Mielodisplásicos, Madrid, Spain. Departament d’Hematologia, Grup d’Hematologia Experimenta, Vall d'Hebron Institute of Oncology (VHIO), Hospital Universitari Vall d'Hebron, Barcelona, Spain. Myelodysplastic Grup de Recerca Síndromes mielodisplàstiques, Institut de recerca contra la leucèmia Josep Carreras, Barcelona, Spain. [Pomares H] Grupo Español de Síndromes Mielodisplásicos, Madrid, Spain. Hematologia Clínica, Institut Catala d'Oncologia - Hospital Duran i Reynals, L'Hospitalet de Llobregat, Spain. Institut d'Investigació Biomedica de Bellvitge (IDIBELL), Universitat de Barcelona, Spain. [Vila J] Grupo Español de Síndromes Mielodisplásicos, Madrid, Spain. Departament d’Hematologia, Institut Català d'Oncologia, Hospital Universitari de Girona Doctor Josep Trueta, Institut Català de la Salut (ICS), Girona, Spain

Source: Blood Adv
Blood Advances
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Dipòsit Digital de la UB
instname
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
Docusalut
Conselleria de Salut i Consum del Govern de les Illes Balears

Subject Terms: Male, Adult, DISEASES::Neoplasms::Neoplasms by Histologic Type::Leukemia::Leukemia, Myeloid::Leukemia, Myelomonocytic, Chronic, Leucèmia mieloide, Anciano, Leucèmia mieloide aguda - Mutació, Estudios Retrospectivos, Leucemia Mieloide Aguda, ENFERMEDADES::neoplasias::neoplasias por tipo histológico::leucemia::leucemia mieloide::leucemia mielomonocítica crónica, Humans, Masculino, Aged, Retrospective Studies, Aged, 80 and over, Persona de Mediana Edad, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Myeloid Neoplasia, Mutación, Proteínas Potenciadoras de Unión a CCAAT, Adulto, Mutació (Biologia), Femenino, Pronóstico, Nuclear Proteins, Proteínas Nucleares, Leukemia, Myelomonocytic, Chronic, Mutation (Biology), Middle Aged, Prognosis, Anciano de 80 o más Años, Humanos, Leukemia, Myeloid, Acute, ENFERMEDADES::neoplasias::neoplasias por tipo histológico::leucemia::leucemia mieloide::leucemia mieloide aguda, Myeloid leukemia, fms-Like Tyrosine Kinase 3, Tirosina Quinasa 3 Similar a fms, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Mutation, CCAAT-Enhancer-Binding Proteins, Female, Leucemia Mielomonocítica Crónica, DISEASES::Neoplasms::Neoplasms by Histologic Type::Leukemia::Leukemia, Myeloid::Leukemia, Myeloid, Acute, Nucleophosmin

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39388660
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=23242
https://hdl.handle.net/2445/218876
http://hdl.handle.net/11351/13159
https://hdl.handle.net/20.500.13003/21708

Phase I/Ib Trial of Inavolisib Plus Palbociclib and Endocrine Therapy for PIK3CA -Mutated, Hormone Receptor–Positive, Human Epidermal Growth Factor Receptor 2–Negative Advanced or Metastatic Breast Cancer

Authors: Komal L. Jhaveri, Melissa K. Accordino, Philippe L. Bedard, Andrés Cervantes, Valentina Gambardella, Erika Hamilton, Antoine Italiano, Kevin Kalinsky, Ian E. Krop, Mafalda Oliveira, Peter Schmid, Cristina Saura, Nicholas C. Turner, Andrea Varga, Sravanthi Cheeti, Stephanie Hilz, Katherine E. Hutchinson, Yanling Jin, Stephanie Royer-Joo, Ubong Peters, Noopur Shankar, Jennifer L. Schutzman, Dejan Juric

Contributors: Institut Català de la Salut, [Jhaveri KL] Memorial Sloan Kettering Cancer Center and Weill Cornell Medical College, New York, NY. [Accordino MK] Columbia University Irving Medical Center, New York, NY. [Bedard PL] Princess Margaret Cancer Centre—University Health Network, University of Toronto, Toronto, ON, Canada. [Cervantes A, Gambardella V] Biomedical Research Institute INCLIVA, University of Valencia, Valencia, Spain. CIBERONC, Instituto de Salud Carlos III, Madrid, Spain. [Hamilton E] Sarah Cannon Research Institute, Nashville, TN. [Oliveira M, Saura C] Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Turner, Nicholas

Source: J Clin Oncol
JOURNAL OF CLINICAL ONCOLOGY
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
Consejo Superior de Investigaciones Científicas (CSIC)
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname

Subject Terms: Adult, 0301 basic medicine, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapéutica::farmacoterapia::protocolos antineoplásicos::terapéutica::farmacoterapia::protocolos de quimioterapia antineoplásica combinada, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, Class I Phosphatidylinositol 3-Kinases, Pyridines, Receptor, ErbB-2, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Therapeutics::Drug Therapy::Antineoplastic Protocols::Therapeutics::Drug Therapy::Antineoplastic Combined Chemotherapy Protocols, Breast Neoplasms, Piperazines, 03 medical and health sciences, ErbB-2, 0302 clinical medicine, Receptors, Antineoplastic Combined Chemotherapy Protocols, 80 and over, Humans, Fulvestrant, Progesterone, Aged, Aged, 80 and over, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Other subheadings::Other subheadings::Other subheadings::/drug therapy, ORIGINAL REPORTS, Middle Aged, Estrogen, Anomalies cromosòmiques, Receptors, Estrogen, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Mama - Càncer - Tractament, Mutation, Letrozole, Mama - Càncer - Aspectes genètics, Female, Receptors, Progesterone, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama, DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms, Receptor

File Description: application/pdf; Print-Electronic

Access URL: https://pubmed.ncbi.nlm.nih.gov/39236276
https://incliva.fundanetsuite.com/publicaciones/ProdCientif/PublicacionFrw.aspx?id=18676
https://hdl.handle.net/11351/12263

Prognostic significance of mutation type and chromosome fragility in Fanconi anemia

Authors: María José Ramírez, Roser Pujol, Jordi Minguillón, Massimo Bogliolo, Ilaria Persico, Debora Cavero, Aurora de la Cal, Paula Río, Susana Navarro, José Antonio Casado, Almudena Bailador, Antonio Sanchez de la Fuente, Miguel López de Heredia, Francisco Almazán, M. Luisa Antelo, Bienvenida Argilés, Isabel Badell, Marta Baragaño, Cristina Beléndez, Mar Bermúdez, Marta Bernués, María Isabel Buedo, Estela Carrasco, Albert Català, Dolors Costa, Isabel Cuesta, Rafael Fernandez‐Delgado, Ana Fernández‐Teijeiro, Ángela Figuera, Marta García, Ainhoa Gondra, Macarena González, Soledad González Muñiz, Ines Hernández‐Rodríguez, Fátima Ibañez, Nicholas John Kelleher, Francisco Lendínez, Mónica López, Ricardo López‐Almaraz, Inmaculada Marchante, Carmen Mendoza, José Nieto, Emilio Ojeda, Salvador Payán‐Pernía, Irene Peláez, Inmaculada Pérez de Soto, Raquel Portugal, María A. Ramos‐Arroyo, Alexandra Regueiro, Ana Rodríguez, Jordi Rosell, Raquel Saez, José Sánchez, Martha Sánchez, MªLeonor Senent, María Tapia, Juan Pablo Trujillo‐Quintero, José Manuel Vagace, Jaime Verdú‐Amorós, Victória Verdugo, Isabel Vidales, Jasson Villarreal, Cristina Díaz‐de‐Heredia, Julián Sevilla, Juan Antonio Bueren, Jordi Surrallés

Contributors: Universidad de Sevilla. Departamento de Farmacología, Pediatría y Radiología, Gobierno de España, Instituto de Salud Carlos III, European Union (UE), Generalitat de Catalunya, Institut Català de la Salut, [Ramírez MJ, Pujol R, Cavero D] Joint Research Unit on Genomic Medicine, Universitat Autònoma de Barcelona (UAB)-IR SANT PAU, Barcelona, Spain. Centro de Investigación Biomédica en Red de Enfermedades Raras, Instituto de Salud Carlos III (CIBERER, ISCIII), Madrid, Spain. Universitat Autònoma de Barcelona (UAB), Bellaterra, Spain. [Minguillón J] La Paz Hospital Institute for Health Research (IdiPAZ), La Paz University Hospital, Pediatric Oncohematology, Spanish National Cancer Research Centre (CNIO), Madrid, Spain. Centro de Investigaciones Energéticas, Medioambientales y Tecnológicas (CIEMAT), Madrid, Spain. [Bogliolo M] Joint Research Unit on Genomic Medicine, Universitat Autònoma de Barcelona (UAB)-IR SANT PAU, Barcelona, Spain. Department of Genetics and Microbiology, Faculty of Biosciences, Universitat Autònoma de Barcelona, Belaterra, Spain. [Persico I] Joint Research Unit on Genomic Medicine, Universitat Autònoma de Barcelona (UAB)-IR SANT PAU, Barcelona, Spain. Institute of Biochemistry II, Faculty of Medicine, Goethe University Frankfurt, Frankfurt, Germany. [Carrasco E] Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. [Díaz-de-Heredia C] Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Ministerio de Ciencia e Innovación (España), Institución Catalana de Investigación y Estudios Avanzados, Agència de Gestió d'Ajuts Universitaris i de Recerca, Ramírez, María José [0000-0003-1417-7731], Persico, Ilaria [0000-0002-8306-3474], Cavero, Débora [0000-0002-8912-1890], Heredia, Miguel López de [0000-0003-2826-9565], Antelo, M. Luisa [0000-0002-4280-4432], Baragaño, Marta [0000-0002-4041-2021], Beléndez, Cristina [0000-0002-6019-6557], Buedo, María Isabel [0000-0002-2967-1647], Carrasco, Estela [0000-0003-1964-7675], Hernández-Rodríguez, Inés [0000-0003-2550-9041], López, Mónica [0000-0001-8134-9682], Payán-Pernía, Salvador [0000-0002-4288-7362], Ramos-Arroyo, María A. [0000-0002-7171-9202], Trujillo-Quintero, Juan Pablo [0000-0001-5901-9388], Vagace, José Manuel [0000-0001-8751-4319], Verdú-Amorós, Jaime [0000-0002-0900-0889], Sevilla, Julián [0000-0002-6852-1860], Surrallés, Jordi [0000-0002-4041-7519], Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72]

Source: Am J Hematol
idUS. Depósito de Investigación de la Universidad de Sevilla
Universidad de Sevilla (US)
AMERICAN JOURNAL OF HEMATOLOGY
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
Instituto de Investigación Sanitaria La Fe (IIS La Fe)
Articles publicats en revistes (Institut d'lnvestigació Biomèdica de Bellvitge (IDIBELL))
Dipòsit Digital de la UB
instname
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
Consejo Superior de Investigaciones Científicas (CSIC)
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Digital.CSIC. Repositorio Institucional del CSIC
Docusalut
Conselleria de Salut i Consum del Govern de les Illes Balears

Subject Terms: Male, 0301 basic medicine, Fragilidad Cromosómica, Preescolar, Neoplasms, Proteína del Grupo de Complementación D2 de la Anemia de Fanconi, Malalties hereditàries, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::aberraciones cromosómicas::inestabilidad cromosómica::fenómenos genéticos::fragilidad cromosómica, Masculino, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::pronóstico, Child, Fanconi Anemia Complementation Group G Protein, Adolescente, Persona de Mediana Edad, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, 0303 health sciences, Fanconi Anemia Complementation Group A Protein, Adulto, Fanconi Anemia Complementation Group D2 Protein, Femenino, Pronóstico, Adulto Joven, Anemia de Fanconi, Middle Aged, Prognosis, Neoplasias, Humanos, Niño, Child, Preschool, Female, Genetic diseases, Research Article, Adult, Pronòstic mèdic, Adolescent, Prognosi, DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases::Anemia::Anemia, Aplastic::Anemia, Hypoplastic, Congenital::Fanconi Anemia, Proteína del Grupo de Complementación G de la Anemia de Fanconi, Young Adult, 03 medical and health sciences, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Chromosome Aberrations::Chromosomal Instability::Genetic Phenomena::Chromosome Fragility, Humans, ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas::anemia::anemia aplásica::anemia hipoplásica congénita::anemia de Fanconi, Mutación, Chromosome Fragility, Proteína del Grupo de Complementación A de la Anemia de Fanconi, Infant, Lactante, Anomalies cromosòmiques, Fanconi Anemia, Anèmia de Fanconi - Aspectes genètics, Estudios de Seguimiento, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Mutation, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Prognosis, Follow-Up Studies

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39562502
https://hdl.handle.net/11441/174120
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=23031
https://hdl.handle.net/2445/220496
https://incliva.fundanetsuite.com/publicaciones/ProdCientif/PublicacionFrw.aspx?id=19299
http://hdl.handle.net/11351/12765
http://hdl.handle.net/10261/390588
https://api.elsevier.com/content/abstract/scopus_id/85209817825
https://hdl.handle.net/20.500.13003/21593
https://ddd.uab.cat/record/306044

Subcutaneous Versus Intravenous Amivantamab, Both in Combination With Lazertinib, in Refractory Epidermal Growth Factor Receptor–Mutated Non–Small Cell Lung Cancer: Primary Results From the Phase III PALOMA-3 Study

Authors: Natasha B. Leighl, Hiroaki Akamatsu, Sun Min Lim, Ying Cheng, Anna R. Minchom, Melina E. Marmarelis, Rachel E. Sanborn, James Chih-Hsin Yang, Baogang Liu, Thomas John, Bartomeu Massutí, Alexander I. Spira, Se-Hoon Lee, Jialei Wang, Juan Li, Caigang Liu, Silvia Novello, Masashi Kondo, Motohiro Tamiya, Ernesto Korbenfeld, Mor Moskovitz, Ji-Youn Han, Mariam Alexander, Rohit Joshi, Enriqueta Felip, Pei Jye Voon, Pongwut Danchaivijitr, Ping-Chih Hsu, Felipe José Silva Melo Cruz, Thomas Wehler, Laurent Greillier, Encarnação Teixeira, Danny Nguyen, Joshua K. Sabari, Angel Qin, Dariusz Kowalski, Mehmet Ali Nahit Şendur, John Xie, Debopriya Ghosh, Ali Alhadab, Nahor Haddish-Berhane, Pamela L. Clemens, Patricia Lorenzini, Remy B. Verheijen, Mohamed Gamil, Joshua M. Bauml, Mahadi Baig, Antonio Passaro, Annalen Bleckmann, Federico Cappuzzo, Byoung Chul Cho, Timucin Cil, Alexis Cortot, Till-Oliver Emde, Dilek Erdem, Fernanda Estevinho, Maria Lurdes Ferreira, Flavio Ferreira da Silva, Maria del Rosario Garcia Campelo, Alastair Greystoke, Jen-Yu Hung, Mei Ji, Young-Chul Kim, Natasha Leighl, Sheng-Hao Lin, John Seng-Hooi Low, Sara Moore, Adnan Nagrial, Yuichiro Ohe, Mustafa Özgüroğlu, Ozgur Ozyilkan, Nir Peled, Naiyarat Prasongsook, Elisa F. Ramos, Jorge Salinas, Mehmet Ali Nahit Sendur, Thatthan Suksombooncharoen, Jiunn Liang Tan, Encarnacao Teixeira, Rajanikar Tota, Damien Urban, Alain Vergnenègre, Vanina Wainsztein, Hiroshige Yoshioka, Alona Zer, Yanqiu Zhao, Bogdan Zurawski

Contributors: Institut Català de la Salut, [Leighl NB] Princess Margaret Cancer Centre, Toronto, ON, Canada. [Akamatsu H] Internal Medicine III, Wakayama Medical University, Wakayama, Japan. [Lim SM] Division of Medical Oncology, Department of Internal Medicine, Yonsei University College of Medicine, Seoul, South Korea. [Cheng Y] Jilin Cancer Hospital, Changchun, China. [Minchom AR] Drug Development Unit, The Royal Marsden Hospital and The Institute of Cancer Research, Sutton, United Kingdom. [Marmarelis ME] Division of Hematology and Oncology, Department of Medicine, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA. [Felip E] Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institute of Oncology (VIHO), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus, İstanbul University Cerrahpaşa Institutional Repository

Source: J Clin Oncol
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
JOURNAL OF CLINICAL ONCOLOGY
r-ISABIAL. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica y Sanitaria de Alicante
Instituto de Investigación Biomédica y Sanitaria de Alicante (ISABIAL)

Subject Terms: Male, Lung Neoplasms, peripheral edema, diarrhea, thrombocytopenia, aspartate aminotransferase, infusion related reaction, middle aged, Antineoplastic Combined Chemotherapy Protocols, genetics, acrylamide derivative, cancer survival, comparative study, Aged, 80 and over, progression free survival, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, non-inferiority trial, adult, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::farmacoterapia::vías de administración de medicamentos::administración intravenosa, clinical trial, nausea, anemia, Progression-Free Survival, 3. Good health, ErbB Receptors, aged, risk factor, monotherapy, Administration, Intravenous, subcutaneous tissue, treatment response time, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Therapeutics::Drug Therapy::Antineoplastic Protocols::Therapeutics::Drug Therapy::Antineoplastic Combined Chemotherapy Protocols, Injections, Subcutaneous, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Drug Therapy::Drug Administration Routes::Administration, Intravenous, Article, multiple cycle treatment, Teràpia intravenosa, demographics, Humans, human, Aged, non small cell lung cancer, treatment duration, ECOG Performance Status, treatment response, major clinical study, mortality, drug efficacy, multicenter study, Anomalies cromosòmiques, lymphocytopenia, aspartate aminotransferase level, randomized controlled trial, Mutation, fatigue, asthenia, mutation, epidermal growth factor receptor, vomiting, drug safety, myalgia, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapéutica::farmacoterapia::protocolos antineoplásicos::terapéutica::farmacoterapia::protocolos de quimioterapia antineoplásica combinada, very elderly, rash, hypocalcemia, lazertinib, lung tumor, amivantamab, trough concentration, Carcinoma, Non-Small-Cell Lung, antineoplastic agent, ORIGINAL REPORTS, Middle Aged, DISEASES::Neoplasms::Neoplasms by Site::Thoracic Neoplasms::Respiratory Tract Neoplasms::Lung Neoplasms::Bronchial Neoplasms::Carcinoma, Bronchogenic::Carcinoma, Non-Small-Cell Lung, drug therapy, intravenous drug administration, female, osimertinib, Female, headache, Adult, side effect, area under the curve, alanine aminotransferase, overall survival, venous thromboembolism, subcutaneous drug administration, cancer chemotherapy, paronychia, Quimioteràpia combinada, EGFR protein, human, alanine aminotransferase level, male, follow up, controlled study, decreased appetite, dermatitis, Acrylamides, phase 3 clinical trial, hypoalbuminemia, constipation, pruritus, bleeding, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias torácicas::neoplasias del tracto respiratorio::neoplasias pulmonares::neoplasias de los bronquios::carcinoma broncogénico::carcinoma de pulmón de células no pequeñas, stomatitis, drug blood level, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, pathology, Pulmons - Càncer - Tractament, plasma concentration-time curve

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38857463
https://hdl.handle.net/11351/12110
https://ascopubs.org/doi/10.1200/JCO.24.01001
https://fundanet.isabial.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=10458
https://hdl.handle.net/20.500.12831/22846

Onasemnogene‐abeparvovec administration to premature infants with spinal muscular atrophy

Authors: Stephen M. Brown, Aparna S. Ajjarapu, Divya Ramachandra, Laura Blasco‐Pérez, Mar Costa‐Roger, Eduardo F. Tizzano, Charlotte J. Sumner, Katherine D. Mathews

Contributors: Institut Català de la Salut, [Brown SM] Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, Maryland, USA. [Ajjarapu AS] Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, Iowa, USA. [Ramachandra D] Department of Genetics, Advocate Children’s Hospital, Oak Lawn, Illinois, USA. [Blasco-Pérez L, Costa-Roger M, Tizzano EF] Grup de Recerca de Medicina Genètica, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

Source: Ann Clin Transl Neurol
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Annals of Clinical and Translational Neurology, Vol 11, Iss 11, Pp 3042-3046 (2024)

Subject Terms: Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, Zolgensma, Neurosciences. Biological psychiatry. Neuropsychiatry, Atròfia muscular espinal - Teràpia genètica, DENOMINACIONES DE GRUPOS::personas::Grupos de Edad::lactante::recién nacido::recién nacido prematuro, Pediatric and Adolescent Medicine, Infants prematurs, Muscular Atrophy, Spinal, NAMED GROUPS::Persons::Age Groups::Infant::Infant, Newborn::Infant, Premature, Atròfia muscular espinal - Aspectes genètics, ENFERMEDADES::enfermedades del sistema nervioso::enfermedades del sistema nervioso central::enfermedades de la médula espinal::atrofia muscular espinal, newborn, Diseases in Twins, Humans, SMA, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapia biológica::terapia genética, RC346-429, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Biological Products, Other subheadings::Other subheadings::Other subheadings::/drug therapy, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Biological Therapy::Genetic Therapy, Case Study, Infant, Newborn, Infant, Genetics and Genomics, gene therapy, Survival of Motor Neuron 1 Protein, Survival of Motor Neuron 2 Protein, Anomalies cromosòmiques, Neurology, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Female, Neurology. Diseases of the nervous system, DISEASES::Nervous System Diseases::Central Nervous System Diseases::Spinal Cord Diseases::Muscular Atrophy, Spinal, Infant, Premature, RC321-571

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39342433
https://hdl.handle.net/11351/12258
https://doaj.org/article/d5dc5d12e75c4010864e8957627976d6

Molecular profiling of BRAF-V600E-mutant metastatic colorectal cancer in the phase 3 BEACON CRC trial

Authors: Scott Kopetz, Danielle A. Murphy, Jie Pu, Fortunato Ciardiello, Jayesh Desai, Eric Van Cutsem, Harpreet Singh Wasan, Takayuki Yoshino, Hedieh Saffari, Xiaosong Zhang, Phineas Hamilton, Tao Xie, Rona Yaeger, Josep Tabernero

Contributors: Institut Català de la Salut, [Kopetz S] University of Texas MD Anderson Cancer Center, Houston, TX, USA. [Murphy DA] Pfizer, La Jolla, CA, USA. [Pu J] Pfizer, New York, NY, USA. [Ciardiello F] University of Campania Luigi Vanvitelli, Naples, Italy. [Desai J] Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia. [Van Cutsem E] University Hospitals Gasthuisberg Leuven and KU Leuven, Leuven, Belgium. [Tabernero J] Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. University of Vic-Central University of Catalonia, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

Source: Nat Med
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname

Subject Terms: Male, Proto-Oncogene Proteins B-raf, DISEASES::Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Intestinal Neoplasms::Colorectal Neoplasms, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapéutica::farmacoterapia::protocolos antineoplásicos::terapéutica::farmacoterapia::protocolos de quimioterapia antineoplásica combinada, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Therapeutics::Drug Therapy::Antineoplastic Protocols::Therapeutics::Drug Therapy::Antineoplastic Combined Chemotherapy Protocols, Cetuximab, Quimioteràpia combinada, Article, Còlon - Càncer - Tractament, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias intestinales::neoplasias colorrectales, Recte - Càncer - Tractament, Antineoplastic Combined Chemotherapy Protocols, Biomarkers, Tumor, Humans, Neoplasm Metastasis, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Sulfonamides, Other subheadings::Other subheadings::Other subheadings::/drug therapy, Gene Expression Profiling, Middle Aged, Gene Expression Regulation, Neoplastic, Anomalies cromosòmiques, Drug Resistance, Neoplasm, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Mutation, Azetidines, Female, Carbamates, Colorectal Neoplasms

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/39313594
https://hdl.handle.net/11351/12262

Amivantamab plus lazertinib versus osimertinib in first-line EGFR-mutant advanced non-small-cell lung cancer with biomarkers of high-risk disease: a secondary analysis from MARIPOSA

Authors: Felip, E., Cho, B.C., Gutierrez, V., Alip, A., Besse, B., Lu, S., Spira, A.I., Girard, N., Califano, R., Gadgeel, S.M., Yang, J.C-H., Yamamoto, S., Azuma, K., Kim, Y.J., Lee, K-H., Danchaivijitr, P., Ferreira, C.G., Cheng, Y., Sendur, M.AN., Chang, G-C., Wang, C-C., Prabhash, K., Shinno, Y., Stroyakovskiy, D., Paz-Ares, L., Rodriguez-Cid, J.R., Martin, C., Campelo, M.RG., Hayashi, H., Nguyen, D., Tomasini, P., Gottfried, M., Dooms, C., Passaro, A., Schuler, M., Gelatti, A.CZ., Owen, S., Perdrizet, K., Ou, S-H.I., Curtin, J.C., Zhang, J., Gormley, M., Sun, T., Panchal, A., Ennis, M., Fennema, E., Bauml, J.M., Daksh, M., Sethi, S., Lee, S-H.

Contributors: Institut Català de la Salut, [Felip E] Medical Oncology Service, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [Cho BC] Division of Medical Oncology, Yonsei Cancer Center, Yonsei University College of Medicine, Seoul, South Korea. [Gutiérrez V] Medical Oncology Department, Hospital Regional Universitario de Málaga y Virgen de la Victoria, IBIMA, Málaga, Spain. [Alip A] Clinical Oncology Unit, Faculty of Medicine, University of Malaya, Kuala Lumpur, Malaysia. [Besse B] Paris-Saclay University, Gustave Roussy, Villejuif, France. [Lu S] Shanghai Lung Cancer Center, Shanghai Chest Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China, Vall d'Hebron Barcelona Hospital Campus, HAL UVSQ, Équipe, Institut Gustave Roussy (IGR), Université Paris-Saclay, Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), Aix Marseille Université (AMU), Institut National de la Santé et de la Recherche Médicale (INSERM), Assistance Publique - Hôpitaux de Marseille (APHM), Janssen Research and Development

Source: Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname

Subject Terms: Male, CLEARANCE, PROGNOSIS, Lung Neoplasms, Indoles, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::terapéutica::farmacoterapia::protocolos antineoplásicos::terapéutica::farmacoterapia::protocolos de quimioterapia antineoplásica combinada, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, [SDV]Life Sciences [q-bio], Medizin, NSCLC, THERAPY, lazertinib, Circulating Tumor DNA, amivantamab, Carcinoma, Non-Small-Cell Lung, Antineoplastic Combined Chemotherapy Protocols, TP53, Aged, 80 and over, 2. Zero hunger, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Other subheadings::Other subheadings::Other subheadings::/drug therapy, Aniline Compounds, Middle Aged, DISEASES::Neoplasms::Neoplasms by Site::Thoracic Neoplasms::Respiratory Tract Neoplasms::Lung Neoplasms::Bronchial Neoplasms::Carcinoma, Bronchogenic::Carcinoma, Non-Small-Cell Lung, Progression-Free Survival, 3. Good health, [SDV] Life Sciences [q-bio], ErbB Receptors, Oncology, Quinolines, Female, Life Sciences & Biomedicine, Adult, LIVER METASTASIS, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Therapeutics::Drug Therapy::Antineoplastic Protocols::Therapeutics::Drug Therapy::Antineoplastic Combined Chemotherapy Protocols, Quimioteràpia combinada, 3211 Oncology and carcinogenesis, Biomarkers, Tumor, COMPUESTOS QUÍMICOS Y DROGAS::nucleótidos y nucleósidos de ácidos nucleicos::ácidos nucleicos::ácidos nucleicos libres de células::ADN tumoral circulante, Humans, 1112 Oncology and Carcinogenesis, Oncology & Carcinogenesis, Aged, Acrylamides, Science & Technology, MUTATIONS, Marcadors tumorals, 3202 Clinical sciences, biomarkers, ctDNA, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias torácicas::neoplasias del tracto respiratorio::neoplasias pulmonares::neoplasias de los bronquios::carcinoma broncogénico::carcinoma de pulmón de células no pequeñas, CHEMICALS AND DRUGS::Nucleic Acids, Nucleotides, and Nucleosides::Nucleic Acids::Cell-Free Nucleic Acids::Circulating Tumor DNA, Anomalies cromosòmiques, Pyrimidines, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Mutation, Pulmons - Càncer - Tractament

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38942080
https://hdl.handle.net/11351/11990
https://avesis.aybu.edu.tr/publication/details/9deff00d-f8fd-4705-ba91-1aad52769cb5/oai

Impact of hormone receptor status and tumor subtypes of breast cancer in young BRCA carriers

Authors: L. Arecco, M. Bruzzone, R. Bas, H.J. Kim, A. Di Meglio, R. Bernstein-Molho, F.S. Hilbers, K. Pogoda, E. Carrasco, K. Punie, J. Bajpai, E. Agostinetto, N. Lopetegui-Lia, A.H. Partridge, K.A. Phillips, A. Toss, C. Rousset-Jablonski, G. Curigliano, T. Renaud, A. Ferrari, S. Paluch-Shimon, R. Fruscio, W. Cui, S.M. Wong, C. Vernieri, F.J. Couch, M.V. Dieci, A. Matikas, M. Rozenblit, D. Aguilar-y Méndez, L. De Marchis, F. Puglisi, A. Fabi, S.L. Graff, I. Witzel, A. Rodriguez Hernandez, A. Fontana, R. Pesce, R. Duchnowska, H.L. Pais, V. Sini, E. Sokolović, E. de Azambuja, M. Ceppi, E. Blondeaux, M. Lambertini

Contributors: Institut Català de la Salut, [Arecco L] Department of Internal Medicine and Medical Specialties (DIMI), School of Medicine, University of Genova, Genova, Italy. Université libre de Bruxelles (ULB), Hôpital Universitaire de Bruxelles (H.U.B), Institut Jules Bordet, Academic Trials Promoting Team, Bruxelles, Belgium. [Bruzzone M] U.O. Epidemiologia Clinica, IRCCS Ospedale Policlinico San Martino, Genova, Italy. [Bas R] Department of Surgery, Universite Paris Cité, Institut Curie, Paris, France. [Kim HJ] Division of Breast Surgery, Department of Surgery, Asan Medical Center, University of Ulsan College of Medicine, Seoul, South Korea. [Di Meglio A] Cancer Survivorship Program—Molecular Predicitors and New Targets in Oncology, INSERM Unit 981, Gustave Roussy, Villejuif, France. [Bernstein-Molho R] Susanne Levy Gertner Oncogenetics Unit, The Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Center Affiliated to Tel Aviv University, Tel Hashomer, Israel. [Carrasco E] Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Hereditary Cancer Genetics Unit, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus

Source: Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname

Subject Terms: Adult, Mama - Càncer - Prognosi, Heterozygote, Other subheadings::Other subheadings::Other subheadings::/genetics, Receptor, ErbB-2, Breast Neoplasms, Disease-Free Survival, Young Adult, BRCA, early breast cancer, hormone receptor status, tumor subtypes, young patients, FENÓMENOS Y PROCESOS::fenómenos genéticos::estructuras genéticas::genoma::componentes genómicos::genes::genes de neoplasias::genes supresores de tumores::genes BRCA1, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Biomarkers, Tumor, Humans, Germ-Line Mutation, Retrospective Studies, BRCA2 Protein, Gens del càncer, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, BRCA1 Protein, Prognosis, Anomalies cromosòmiques, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Genes, Neoplasm::Genes, Tumor Suppressor::Genes, BRCA1, Receptors, Estrogen, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Mama - Càncer - Aspectes genètics, Female, Receptors, Progesterone, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama, DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms

File Description: application/pdf

Access URL: https://pubmed.ncbi.nlm.nih.gov/38908482
https://hdl.handle.net/11351/11987
https://hdl.handle.net/2434/1115453
https://doi.org/10.1016/j.annonc.2024.06.009
https://hdl.handle.net/10281/500459
https://doi.org/10.1016/j.annonc.2024.06.009
https://hdl.handle.net/11380/1367654
https://doi.org/10.1016/j.annonc.2024.06.009
https://hdl.handle.net/11573/1716962
https://hdl.handle.net/11573/1721075
https://doi.org/10.1016/j.annonc.2024.06.009

Inferring disease course from differential exon usage in the wide titinopathy spectrum

Authors: Maria Francesca Di Feo, Ali Oghabian, Ella Nippala, Mathias Gautel, Heinz Jungbluth, Francesca Forzano, Edoardo Malfatti, Claudia Castiglioni, Ilona Krey, David Gomez Andres, Angela F. Brady, Maria Iascone, Anna Cereda, Lidia Pezzani, Daniel Natera De Benito, Andres Nascimiento Osorio, Berta Estévez Arias, Sergei A. Kurbatov, Tania Attie‐Bitach, Sheela Nampoothiri, Erin Ryan, Michelle Morrow, Svetlana Gorokhova, Brigitte Chabrol, Juha Sinisalo, Heli Tolppanen, Johanna Tolva, Francina Munell, Jessica Camacho Soriano, Maria Angeles Sanchez Duran, Mridul Johari, Homa Tajsharghi, Peter Hackman, Bjarne Udd, Marco Savarese

Contributors: Institut Català de la Salut, [Di Feo MF] Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy. Folkhälsan Research Center, Helsinki, Uusimaa, Finland. [Oghabian A, Nippala E] Folkhälsan Research Center, Helsinki, Uusimaa, Finland. [Gautel M] Randall Division of Cell and Molecular Biophysics and Cardiovascular Division, King’s College London BHF Centre of Research Excellence, London, UK. [Jungbluth H] Randall Division of Cell and Molecular Biophysics and Cardiovascular Division, King’s College London BHF Centre of Research Excellence, London, UK. Paediatric Neurology, Neuromuscular Service, Evelina’s Children Hospital, Guy’s and St Thomas’ Hospitals NHS Trust, London, UK. [Forzano F] Clinical Genetics Department, Guy’s and St Thomas NHS Foundation Trust, London, UK. [Gomez Andres D] Secció de Neurologia Pediàtrica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Munell F] Unitat de Malalties Neuromusculars Pediàtriques, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Camacho Soriano J] Servei d’Anatomia Patològica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Sanchez Duran MA] Unitat de Medicina Materna i Fetal, Servei d’Obstetrícia, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain, Vall d'Hebron Barcelona Hospital Campus, HUS Heart and Lung Center, Department of Medicine, Clinicum, University of Helsinki, Department of Pathology, HUSLAB, Medicum, Gall, Valérie, Tampere University, TULE, Tuki- ja liikuntaelinkeskus, TULE, Musculoskeletal diseases centre

Source: Ann Clin Transl Neurol
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Annals of Clinical and Translational Neurology, Vol 11, Iss 10, Pp 2745-2755 (2024)
Di Feo, M F, Oghabian, A, Nippala, E, Gautel, M, Jungbluth, H, Forzano, F, Malfatti, E, Castiglioni, C, Krey, I, Gomez Andres, D, Brady, A F, Iascone, M, Cereda, A, Pezzani, L, Natera De Benito, D, Nascimiento Osorio, A, Estévez Arias, B, Kurbatov, S A, Attie-Bitach, T, Nampoothiri, S, Ryan, E, Morrow, M, Gorokhova, S, Chabrol, B, Sinisalo, J, Tolppanen, H, Tolva, J, Munell, F, Camacho Soriano, J, Sanchez Duran, M A, Johari, M, Tajsharghi, H, Hackman, P, Udd, B & Savarese, M 2024, 'Inferring disease course from differential exon usage in the wide titinopathy spectrum', Annals of Clinical and Translational Neurology, vol. 11, no. 10, pp. 2745-2755. https://doi.org/10.1002/acn3.52189

Subject Terms: Male, Adult, 0301 basic medicine, Other subheadings::Other subheadings::Other subheadings::/genetics, Neurologi, Adolescent, ENFERMEDADES::enfermedades musculoesqueléticas::enfermedades musculares::trastornos musculares atróficos::distrofias musculares::miopatias distales, Bioinformatics and Computational Biology, Neurosciences. Biological psychiatry. Neuropsychiatry, [SDV.GEN] Life Sciences [q-bio]/Genetics, Medical Genetics and Genomics, Neurology and psychiatry, 03 medical and health sciences, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Humans, Connectin, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Structures::Genome::Genome Components::Genes::Gene Components::Exons, RC346-429, Muscle, Skeletal, Child, FENÓMENOS Y PROCESOS::fenómenos genéticos::estructuras genéticas::genoma::componentes genómicos::genes::componentes génicos::exones, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, 0303 health sciences, Neurosciences, Exons, DISEASES::Musculoskeletal Diseases::Muscular Diseases::Muscular Disorders, Atrophic::Muscular Dystrophies::Distal Myopathies, DISEASES::Musculoskeletal Diseases::Muscular Diseases, Medicinsk genetik och genomik, Anomalies cromosòmiques, Neurology, Bioinformatik och beräkningsbiologi, Músculs - Malalties - Aspectes genètics, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, ENFERMEDADES::enfermedades musculoesqueléticas::enfermedades musculares, Child, Preschool, Mutation, Disease Progression, Female, Neurology. Diseases of the nervous system, RC321-571, Research Article

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Access URL: https://pubmed.ncbi.nlm.nih.gov/39198997
https://hdl.handle.net/11351/12580
https://doaj.org/article/56fcca32800d4caeb1e23bc0b7d6e783
http://hdl.handle.net/10138/585383
https://kclpure.kcl.ac.uk/ws/files/352658195/Inferring_disease_course_DI_FEO_Publishedonline28August2024_GOLD_VoR_CC_BY_.pdf
https://amu.hal.science/hal-04930450v1
https://amu.hal.science/hal-04930450v1/document
https://doi.org/10.1002/acn3.52189
http://urn.kb.se/resolve?urn=urn:nbn:se:his:diva-24485

The INSIGHT study: a randomized, Phase III study of ripretinib versus sunitinib for advanced gastrointestinal stromal tumor with KIT exon 11 + 17/18 mutations: a randomized, Phase III study of ripretinib versus sunitinib for advanced gastrointestinal stromal tumor with KIT exon 11+17/18 mutations

Authors: Suzanne George, Jean-Yves Blay, Ping Chi, Robin L Jones, César Serrano, Neeta Somaiah, Hans Gelderblom, John R Zalcberg, William Reichmann, Kam Sprott, Paulina Cox, Matthew L Sherman, Rodrigo Ruiz-Soto, Michael C Heinrich, Sebastian Bauer

Contributors: Institut Català de la Salut, [George S] Dana-Farber Cancer Institute, Boston, MA, USA. [Blay JY] Centre Léon Bérard, Lyon, France. [Chi P] Memorial Sloan Kettering Cancer Center, New York, NY, USA. Weill Cornell Medicine, New York, NY, USA. [Jones RL] Sarcoma Unit, The Royal Marsden NHS Foundation Trust & Institute of Cancer Research, London, UK. [Serrano C] Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. [Somaiah N] The University of Texas MD Anderson Cancer Center, Houston, TX, USA, Vall d'Hebron Barcelona Hospital Campus

Source: Future Oncol
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname

Subject Terms: Adult, Male, CHEMICALS AND DRUGS::Chemical Actions and Uses::Pharmacologic Actions::Molecular Mechanisms of Pharmacological Action::Enzyme Inhibitors::Protein Kinase Inhibitors, Clinical Trial Protocol, ctDNA mutational analysis, Other subheadings::Other subheadings::/therapeutic use, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, Gastrointestinal Stromal Tumors, sunitinib, Medizin, COMPUESTOS QUÍMICOS Y DROGAS::acciones y usos químicos::acciones farmacológicas::mecanismos moleculares de acción farmacológica::inhibidores enzimáticos::inhibidores de proteínas cinasas, Otros calificadores::Otros calificadores::/uso terapéutico, INSIGHT, Antineoplastic Agents, DISEASES::Neoplasms::Neoplasms by Histologic Type::Neoplasms, Connective and Soft Tissue::Neoplasms, Connective Tissue::Gastrointestinal Stromal Tumors, gastrointestinal stromal tumor, tyrosine kinase inhibitor, Tracte gastrointestinal - Càncer - Tractament, ripretinib, Sunitinib, Humans, Urea, Protein Kinase Inhibitors, Aged, Gastrointestinal Neoplasms, Randomized Controlled Trials as Topic, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación, Other subheadings::Other subheadings::Other subheadings::/drug therapy, Exons, KIT mutations, Middle Aged, targeted therapy, Proto-Oncogene Proteins c-kit, Anomalies cromosòmiques, Treatment Outcome, Clinical Trials, Phase III as Topic, Drug Resistance, Neoplasm, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation, Mutation, Female, Phase III trial, ENFERMEDADES::neoplasias::neoplasias por tipo histológico::neoplasias de tejido conjuntivo y de tejidos blandos::neoplasias de tejido conjuntivo::tumores del estroma gastrointestinal, predictive marker, Proteïnes quinases - Inhibidors - Ús terapèutic

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Access URL: https://pubmed.ncbi.nlm.nih.gov/39229786
https://hdl.handle.net/11351/12128
https://hdl.handle.net/1887/4195712
https://www.ncbi.nlm.nih.gov/pubmed/39229786
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85203297665
https://doi.org/10.1080/14796694.2024.2376521