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1Academic Journal
Authors: Matteo Lambertini, Eva Blondeaux, Loredana M. Tomasello, Elisa Agostinetto, Anne-Sophie Hamy, Hee Jeong Kim, Maria Alice Franzoi, Rinat Bernstein-Molho, Florentine Hilbers, Katarzyna Pogoda, Hans Wildiers, Jyoti Bajpai, Michail Ignatiadis, Halle C.F. Moore, Ann H. Partridge, Kelly-Anne Phillips, Angela Toss, Christine Rousset-Jablonski, Carmen Criscitiello, Tiphaine Renaud, Alberta Ferrari, Shani Paluch-Shimon, Robert Fruscio, Wanda Cui, Stephanie M. Wong, Claudio Vernieri, Kathryn J. Ruddy, Maria Vittoria Dieci, Alexios Matikas, Mariya Rozenblit, Cynthia Villarreal-Garza, Laura De Marchis, Fabio Puglisi, Kenny A. Rodriguez-Wallberg, Francois P. Duhoux, Luca Livraghi, Marco Bruzzone, Luca Boni, Judith Balmaña
Contributors: Institut Català de la Salut, [Lambertini M] Department of Internal Medicine and Medical Specialties (DIMI), School of Medicine, University of Genova, Genoa, Italy. Medical Oncology Department, U.O.C. Clinica di Oncologia Medica, IRCCS Ospedale Policlinico San Martino, Genoa, Italy. [Blondeaux E] U. O. Epidemiologia Clinica, IRCCS Ospedale Policlinico San Martino, Genoa, Italy. [Tomasello LM] Department of Internal Medicine and Medical Specialties (DIMI), School of Medicine, University of Genova, Genoa, Italy. Section of Medical Oncology, Department of Precision Medicine in Medical, Surgical and Clinical Care (Me.Pre.C.C), University of Palermo, Palermo, Italy. [Agostinetto E] Medical Oncology Department, Institut Jules Bordet, Université Libre de Bruxelles (U.L.B.), Hôpital Universitaire de Bruxelles (HUB), Brussels, Belgium. [Hamy AS] Department of Medical Oncology, Université Paris Cite, 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. [Balmaña J] 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, UCL - SSS/IREC/MIRO - Pôle d'imagerie moléculaire, radiothérapie et oncologie
Source: J Clin Oncol
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
Journal of clinical oncology : official journal of the American Society of Clinical Oncology, Vol. 2025, no.2025, p. JCO2401334 (2025)Subject Terms: brca, young, clinical, breast cancer, Adult, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, Heterozygote, CHEMICALS AND DRUGS::Amino Acids, Peptides, and Proteins::Proteins::Fanconi Anemia Complementation Group Proteins::BRCA1 Protein, BRCA, Breast Neoplasms, MUTATION CARRIERS, Other subheadings::Other subheadings::/diagnosis, Young Adult, AGE, Mama - Càncer - Propensió, Otros calificadores::Otros calificadores::/diagnóstico, 3211 Oncology and carcinogenesis, Humans, Genetic Predisposition to Disease, 1112 Oncology and Carcinogenesis, Genetic Testing, Oncology & Carcinogenesis, Mama - Càncer - Diagnòstic, Germ-Line Mutation, Retrospective Studies, RISK, BRCA2 Protein, Science & Technology, INTERNATIONAL CONSENSUS GUIDELINES, ENFERMEDADES::afecciones patológicas, signos y síntomas::procesos patológicos::atributos de la enfermedad::susceptibilidad a enfermedades::predisposición genética a la enfermedad, BRCA1 Protein, WOMEN, 1103 Clinical Sciences, ORIGINAL REPORTS, OVARIAN, Prognosis, DISEASES::Pathological Conditions, Signs and Symptoms::Pathologic Processes::Disease Attributes::Disease Susceptibility::Genetic Predisposition to Disease, Anomalies cromosòmiques, Oncology, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal, Mama - Càncer - Aspectes genètics, Female, COMPUESTOS QUÍMICOS Y DROGAS::aminoácidos, péptidos y proteínas::proteínas::proteínas de grupos de complementación de la anemia de Fanconi::proteína BRCA1, Life Sciences & Biomedicine, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama, DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms
File Description: application/pdf
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2Academic Journal
Authors: Elisabet Munté, Lídia Feliubadaló, Jesús Del Valle, Sara González, Mireia Ramos-Muntada, Judith Balmaña, Teresa Ramon y Cajal, Noemí Tuset, Gemma Llort, Juan Cadiñanos, Joan Brunet, Gabriel Capellá, Conxi Lázaro, Marta Pineda
Contributors: Institut Català de la Salut, [Munté E] Hereditary Cancer Program, Catalan Institute of Oncology, L'Hospitalet de Llobregat, Spain. Hereditary Cancer Group, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d’Investigació Biomèdica de Bellvitge, L'Hospitalet de Llobregat, Spain. [Feliubadaló L, Del Valle J] Hereditary Cancer Program, Catalan Institute of Oncology, L'Hospitalet de Llobregat, Spain. Hereditary Cancer Group, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d’Investigació Biomèdica de Bellvitge, L'Hospitalet de Llobregat, Spain. Ciber Oncología, Instituto Salud Carlos III, Madrid, Spain. [González S] Hereditary Cancer Program, Catalan Institute of Oncology, L'Hospitalet de Llobregat, Spain. Hereditary Cancer Group, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d’Investigació Biomèdica de Bellvitge, L'Hospitalet de Llobregat, Spain. [Ramos-Muntada M] Hereditary Cancer Group, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d’Investigació Biomèdica de Bellvitge, L'Hospitalet de Llobregat, Spain. Ciber Oncología, Instituto Salud Carlos III, Madrid, Spain. [Balmaña J] High Risk and Cancer Prevention Group, 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, Universitat Autònoma de Barcelona
Source: 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
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de BarcelonaSubject Terms: PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, Mutació (Biologia), DNA Mutational Analysis, High-Throughput Nucleotide Sequencing, Computational Biology, Cromosomes humans - Anomalies - Diagnòstic, Mutation (Biology), Càncer - Aspectes genètics, Biologia computacional, Computational biology, DISEASES::Neoplasms, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing, CIENCIA DE LA INFORMACIÓN::Ciencias de la información::informática::biología computacional, Bioinformàtica, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal, ENFERMEDADES::neoplasias, Neoplastic Syndromes, Hereditary, Humans, INFORMATION SCIENCE::Information Science::Informatics::Computational Biology, Genetic Testing, Càncer - Diagnòstic, Germ-Line Mutation, Mismatch Repair Endonuclease PMS2
File Description: application/pdf
Linked Full TextAccess URL: https://pubmed.ncbi.nlm.nih.gov/38851388
https://hdl.handle.net/2445/215289
https://hdl.handle.net/11351/11852
http://hdl.handle.net/2445/215289 -
3Academic Journal
Authors: Fátima Marín, Júlia Canet-Hermida, Vanessa Bianchi, Jiil Chung, Katharina Wimmer, William Foulkes, Vanesa Pérez-Alonso, Nerea Domínguez-Pinilla, Constantino Sábado, Felisa Vázquez-Gómez, Antonio Molinés, Victoria Fioravantti, Estela Carrasco, Lucie Stengs, Melissa Edwards, Logine Negm, Anirban Das, Melyssa Aronson, Ángela Pastor, Daniel Rueda, Luis Ignacio González-Granado, Uri Tabori, Gabriel Capellá, Marta Pineda
Contributors: Institut Català de la Salut, [Marín F, Canet-Hermida J] Hereditary Cancer Group, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d’Investigació Biomèdica de Bellvitge (IDIBELL), L’Hospitalet de Llobregat, Barcelona, Spain. CIBER Oncología (CIBERONC), Instituto Salud Carlos III, Madrid, Spain. [Bianchi V, Chung J] The Arthur and Sonia Labatt Brain Tumour Research Centre, The Hospital for Sick Children, Toronto, ON, Canada. Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, ON, Canada. [Wimmer K] Institute of Human Genetics, Medical University of Innsbruck, Innsbruck, Austria. [Foulkes W] Cancer Axis, Lady Davis Institute, Jewish General Hospital, Montreal, QC, Canada. Cancer Research Program, Research Institute of the McGill University Health Centre, Montreal, QC, Canada. [Sábado C] Servei d'Hematologia i Oncologia Pediàtriques, Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Carrasco E] Hereditary Cancer Genetics Group, Medical Oncology Department, 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
instnameSubject Terms: PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, Male, 0301 basic medicine, ADN - Reparació, Other subheadings::Other subheadings::Other subheadings::/genetics, Adolescent, Càncer - Aspectes genètics, DNA Mismatch Repair, DISEASES::Neoplasms, 03 medical and health sciences, Neoplastic Syndromes, Hereditary, Otros calificadores::Otros calificadores::Otros calificadores::/genética, Humans, FENÓMENOS Y PROCESOS::fenómenos químicos::fenómenos bioquímicos::reparación del ADN::reparación del emparejamiento incorrecto del ADN, Child, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::inestabilidad genómica::fenómenos genéticos::inestabilidad de microsatélites, Germ-Line Mutation, Alleles, Mismatch Repair Endonuclease PMS2, Satèl·lits (Genètica), 0303 health sciences, Brain Neoplasms, 3. Good health, Anomalies cromosòmiques, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal, ENFERMEDADES::neoplasias, Child, Preschool, PHENOMENA AND PROCESSES::Chemical Phenomena::Biochemical Phenomena::DNA Repair::DNA Mismatch Repair, Microsatellite Instability, Female, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Genomic Instability::Genetic Phenomena::Microsatellite Instability, Colorectal Neoplasms
Linked Full TextFile Description: application/pdf
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4Academic Journal
Authors: DELUCCHI, VIRGINIA, Ferrari, Alberta, Blondeaux, Eva, Mariamidze, Elene, Bernstein Molho, Rinat, Frank, Sophie, Balmaña, Judith
Contributors: Institut Català de la Salut, Blondeaux E, Delucchi V U.O. Epidemiologia Clinica, IRCCS Ospedale Policlinico San Martino, Genova, Italy. Mariamidze E Department of Oncology and Haematology, Todua Clinic, Tbilisi, Georgia. Bernstein-Molho R Susanne Levy Gertner Oncogenetics Unit, Danek Gertner Institute of Human Genetics, Chaim Sheba Medical Centre affiliated to Tel Aviv University, Tel Hashomer, Israel. Frank S Department of Medical Oncology, Institut Curie, Paris, France. Ferrari A Hereditary Breast and Ovarian Cancer (HBOC) Unit and General Surgery 3—Senology, Surgical Department, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy. Department of General Surgery, University of Pavia, Pavia, Italy. Balmana J 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
Subject Terms: Anomalies cromosòmiques, Mama - Càncer - Aspectes genètics, Alletament, DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms, Other subheadings::Other subheadings::Other subheadings::/genetics, PSYCHIATRY AND PSYCHOLOGY::Behavior and Behavior Mechanisms::Behavior::Feeding Behavior::Breast Feeding, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama, Otros calificadores::Otros calificadores::Otros calificadores::/genética, PSIQUIATRÍA Y PSICOLOGÍA::conducta y mecanismos de la conducta::conducta::conducta alimentaria::lactancia materna, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal
File Description: application/pdf
Relation: JNCI: Journal of the National Cancer Institute;117(11); https://doi.org/10.1093/jnci/djaf177; https://hdl.handle.net/11351/14096; 001547623500001
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5Academic Journal
Authors: Marin-Quilez, Ana, SÁNCHEZ FUENTES, ANA, Zamora Cánovas, Ana, Gómez-González, Pedro Luis, Diaz-Ajenjo, Lorena, BENITO SANCHEZ, M ROCIO, Murciano, Thais, Murillo-Sanjuán, Laura
Contributors: Institut Català de la Salut, Marín-Quílez A, Sánchez-Fuentes A, Zamora-Cánovas A, Gómez-González PL Servicio de Hematología, Centro Regional de Hemodonación, IMIB-Pascual Parrilla, CIBERER-ISCIII, Hospital Universitario Morales Meseguer, Universidad de Murcia, Murcia, Spain. Diaz-Ajenjo L, Benito R IBSAL, CIC, IBMCC, Universidad de Salamanca-CSIC, Salamanca, Spain. Murciano T, Murillo L Servei d’Hematologia i Oncologia Pediàtriques, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
Source: Scientia
Subject Terms: Sang - Càncer - Aspectes genètics, Trombocitopènia - Aspectes genètics, Sang - Càncer - Propensió, DISEASES::Hemic and Lymphatic Diseases::Hematologic Diseases::Blood Platelet Disorders::Thrombocytopenia, Other subheadings::Other subheadings::Other subheadings::/genetics, DISEASES::Neoplasms::Neoplasms by Site::Hematologic Neoplasms, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, ENFERMEDADES::enfermedades hematológicas y linfáticas::enfermedades hematológicas::trastornos de las plaquetas sanguíneas::trombocitopenia, Otros calificadores::Otros calificadores::Otros calificadores::/genética, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias hematológicas, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal
File Description: application/pdf
Relation: British Journal of Haematology;207(4); https://doi.org/10.1111/bjh.70001; https://hdl.handle.net/11351/13863; 001530318100001
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6Academic Journal
Authors: Papakonstantinou, Andri, Castillo, Ester, Vega Cano, Kreina Sharela, Torres López, Maite, Moles-Fernández, Alejandro, Cruellas , Mara, Lopez-Fernandez, Adrià, Matito, Judit, Gómez-Rey, Marina, Rezqallah Arón , María Alejandra, Saura Manich, Cristina, Vivancos, Ana, Balmaña, Judith, Oliveira, Mafalda, Navarro Garces, Victor
Contributors: Institut Català de la Salut, Cruellas M, López-Fernández A, Vega S, Balmaña J Medical Oncology Service, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Papakonstantinou A Department of Oncology-Pathology, Karolinska Institute, Stockholm, Sweden. Department Breast Cancer, Endocrine Tumors and Sarcoma, Theme Cancer, Karolinska Comprehensive Cancer Center, Stockholm, Sweden. Castillo E, Matito J, Gómez M, Vivancos A Genomics Cancer Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Rezqallah A Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Navarro V Statistics Unit, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Torres M Consulta de Genètica Clínica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Moles-Fernández A Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Saura C, Oliveira M Medical Oncology Service, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Breast Cancer Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
Source: Scientia
Subject Terms: Mama - Càncer - Aspectes genètics, Anomalies cromosòmiques, Cromosomes humans - Anomalies - Diagnòstic, DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms, Other subheadings::Other subheadings::Other subheadings::/genetics, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Epidemiologic Methods::Epidemiologic Research Design::Sensitivity and Specificity, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, AND EQUIPMENT::Diagnosis::Diagnostic Techniques and Procedures::Clinical Laboratory Techniques::Genetic Testing, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama, Otros calificadores::Otros calificadores::Otros calificadores::/genética, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::métodos epidemiológicos::diseño de la investigación epidemiológica::sensibilidad y especificidad, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal, DIAGNÓSTICOS Y TERAPÉUTICOS::diagnóstico::técnicas y procedimientos diagnósticos::técnicas de laboratorio clínico::pruebas genéticas
File Description: application/pdf
Relation: The Breast;81; https://doi.org/10.1016/j.breast.2025.104439; https://hdl.handle.net/11351/13002; 001448060200001
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7Academic Journal
Authors: Grochot, R, Carreira, S, Miranda, S, Figueiredo, I, Bertan, C, Rekowski, J, Yuan, W, Ferreira, A, Riisnaes, R, Neeb, A, Gurel, B, de Los Dolores Fenor de la Maza, M, Guo, C, Carmichael, J, Westaby, D, Mateo, J, Sharp, A, McVeigh, TP, De Bono, J
Contributors: Institut Català de la Salut, [Grochot R] The Institute of Cancer Research (ICR), London, UK. Royal Marsden NHS Foundation Trust (RMH), London, UK. [Carreira S, Miranda S, Figueiredo I, Bertan C, Rekowski J] The Institute of Cancer Research (ICR), London, UK. [Mateo J] Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Carreira, Suzanne, Miranda, Susana, Figueiredo, Ines, Rekowski, Jan, Gurel, Bora, Westaby, Daniel, McVeigh, Terri, De Bono, Johann
Source: Eur Urol Open Sci
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instname
European Urology Open Science, Vol 52, Iss, Pp 72-78 (2023)Subject Terms: PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, Synthetic lethality, Other subheadings::Other subheadings::Other subheadings::/genetics, DNA damage response, ATR inhibition, 03 medical and health sciences, 0302 clinical medicine, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias urogenitales::neoplasias de los genitales masculinos::neoplasias de la próstata, Otros calificadores::Otros calificadores::Otros calificadores::/genética, DISEASES::Neoplasms::Neoplasms by Site::Urogenital Neoplasms::Genital Neoplasms, Male::Prostatic Neoplasms, RC254-282, Seqüència de nucleòtids, Prostate cancer, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Investigative Techniques::Genetic Techniques::Sequence Analysis::Sequence Analysis, DNA, PARP inhibition, Prostate Cancer, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, Diseases of the genitourinary system. Urology, 3. Good health, Anomalies cromosòmiques, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal, ATM, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::técnicas de investigación::técnicas genéticas::análisis de secuencias::análisis de secuencias de ADN, RC870-923, Pròstata - Càncer - Aspectes genètics
File Description: application/pdf; Electronic-eCollection
Linked Full TextAccess URL: https://pubmed.ncbi.nlm.nih.gov/37284046
https://hdl.handle.net/11351/9738
https://doaj.org/article/eac68c6ede4f43d4a8673b793f11158f -
8Academic Journal
Authors: Ana Beatriz Sánchez-Heras, Teresa Ramon y Cajal, Marta Pineda, Elena Aguirre, Begoña Graña, Isabel Chirivella, Judit Balmaña, Joan Brunet
Contributors: Universitat Autònoma de Barcelona, Institut Català de la Salut, [Sánchez-Heras AB] Medical Oncology Department, Hospital General Universitario de Elche, Elche, Alicante, Spain. [Ramon Y Cajal T] Medical Oncology Service, Hospital Sant Pau, Barcelona, Spain. [Pineda M] Hereditary Cancer Program, Catalan Institute of Oncology, Institut d’Investigació Biomèdica de Bellvitge (IDIBELL), ONCOBELL Program, L’Hospitalet de Llobregat, Barcelona, Spain. Consortium for Biomedical Research in Cancer, CIBERONC, Carlos III Institute of Health, Madrid, Spain. [Aguirre E] Medical Oncology Department, Hospital Quironsalud, Zaragoza, Spain. [Graña B] Medical Oncology Department, University Hospital A Coruña, A Coruña, Spain. [Chirivella I] Medical Oncology Department, INCLIVA Biomedical Research Institute, University of Valencia, Valencia, Spain. [Balmaña J] Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
Source: Clin Transl Oncol
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
CLINICAL & TRANSLATIONAL ONCOLOGY
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
instname
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
r-FISABIO. Repositorio Institucional de Producción Científica
Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO)Subject Terms: PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, Clinical Guides in Oncology, Pathogenic variants, Bone Neoplasms, PHENOMENA AND PROCESSES::Genetic Phenomena::Genotype::Genetic Predisposition to Disease, FENÓMENOS Y PROCESOS::fenómenos genéticos::genotipo::predisposición genética a la enfermedad, Càncer - Aspectes genètics, DISEASES::Neoplasms::Neoplastic Syndromes, Hereditary::Li-Fraumeni Syndrome, Adrenal Cortex Neoplasms, 3. Good health, Li-Fraumeni Syndrome, Anomalies cromosòmiques, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal, ENFERMEDADES::neoplasias::síndromes neoplásicos hereditarios::síndrome de Li-Fraumeni, Adrenocortical Carcinoma, Humans, Genetic Predisposition to Disease, Malalties congènites, Li-Fraumeni syndrome, TP53, Tumor Suppressor Protein p53, Germ-Line Mutation, Cancer
File Description: application/pdf
Linked Full TextAccess URL: https://pubmed.ncbi.nlm.nih.gov/37133731
https://incliva.fundanetsuite.com/publicaciones/ProdCientif/PublicacionFrw.aspx?id=17439
https://hdl.handle.net/11351/10231
https://fisabio.portalinvestigacion.com/publicaciones/15303 -
9Academic Journal
Authors: Annalisa Petrelli, Sabrina Rizzolio, Filippo Pietrantonio, Sara E. Bellomo, Matteo Benelli, Loris De Cecco, Dario Romagnoli, Enrico Berrino, Claudia Orrù, Salvatore Ribisi, Daniel Moya-Rull, Cristina Migliore, Daniela Conticelli, Irene M. Maina, Elisabetta Puliga, Violeta Serra, Benedetta Pellegrino, Alba Llop-Guevara, Antonino Musolino, Salvatore Siena, Andrea Sartore-Bianchi, Michele Prisciandaro, Federica Morano, Maria Antista, Uberto Fumagalli, Giovanni De Manzoni, Maurizio Degiuli, Gian Luca Baiocchi, Marco F. Amisano, Alessandro Ferrero, Caterina Marchiò, Simona Corso, Silvia Giordano
Contributors: Institut Català de la Salut, [Petrelli A, Rizzolio S] Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Italy. [Pietrantonio F] Medical Oncology Department, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy. [Bellomo SE] Candiolo Cancer Institute, FPO-IRCCS, Candiolo, Italy. Department of Oncology, University of Torino, Candiolo, Italy. [Benelli M] Bioinformatics Unit, Oncology Department, Nuovo Ospedale-Santo Stefano, Prato, Italy. [De Cecco L] Molecular Mechanisms Unit, Department of Research, Fondazione IRCCS Istituto Nazionale dei Tumori, Milan, Italy. [Serra V, Llop-Guevara A] Experimental Therapeutics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Petrelli, Annalisa, Rizzolio, Sabrina, Pietrantonio, Filippo, Bellomo, Sara E, Benelli, Matteo, De Cecco, Lori, Romagnoli, Dario, Berrino, Enrico, Orrù, Claudia, Ribisi, Salvatore, Moya-Rull, Daniel, Migliore, Cristina, Conticelli, Daniela, Maina, Irene M, Puliga, Elisabetta, Serra, Violeta, Pellegrino, Benedetta, Llop-Guevara, Alba, Musolino, Antonino, Siena, Salvatore, Sartore-Bianchi, Andrea, Prisciandaro, Michele, Morano, Federica, Antista, Maria, Fumagalli, Uberto, De Manzoni, Giovanni, Degiuli, Maurizio, Baiocchi, Gian Luca, Amisano, Marco F, Ferrero, Alessandro, Marchiò, Caterina, Corso, Simona, Giordano, Silvia
Source: Cancer Res
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instnameSubject Terms: PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, Other subheadings::Other subheadings::/therapeutic use, Otros calificadores::Otros calificadores::Otros calificadores::/farmacoterapia, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias del sistema digestivo::neoplasias gastrointestinales::neoplasias gástricas, Otros calificadores::Otros calificadores::/uso terapéutico, Medicaments antineoplàstics - Ús terapèutic, Germ-Line Mutation, Gastric Cancers, PARP Inhibitors, Antineoplastic Agents, Poly(ADP-ribose) Polymerase Inhibitors, DISEASES::Neoplasms::Neoplasms by Site::Digestive System Neoplasms::Gastrointestinal Neoplasms::Stomach Neoplasms, BRCA2, REPAIR, DNA, RESISTANCE, GASTRIC, CANCER, PDX, MUTATIONS, HRD, PARPi, Stomach Neoplasms, Humans, Gastric Cancers, PARP Inhibitors, Estómac - Càncer - Aspectes genètics, Germ-Line Mutation, Retrospective Studies, BRCA2 Protein, Ovarian Neoplasms, Other subheadings::Other subheadings::Other subheadings::/drug therapy, BRCA1 Protein, 3. Good health, Anomalies cromosòmiques, Estómac - Càncer - Tractament, COMPUESTOS QUÍMICOS Y DROGAS::acciones y usos químicos::acciones farmacológicas::usos terapéuticos::antineoplásicos, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal, Translational Cancer Biology, Female, CHEMICALS AND DRUGS::Chemical Actions and Uses::Pharmacologic Actions::Therapeutic Uses::Antineoplastic Agents
File Description: application/pdf
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10Academic Journal
Authors: Kuzbari, Z, Bandlamudi, C, Loveday, C, Garrett, A, Mehine, M, George, A, Hanson, H, Snape, K, Kulkarni, A, Allen, S, Jezdic, S, Ferrandino, R, Westphalen, CB, Castro, E, Rodon, J, Mateo, J, Burghel, GJ, Berger, MF, Mandelker, D, Turnbull, C
Contributors: Institut Català de la Salut, [Kuzbari Z, Loveday C, Garrett A] Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK. [Bandlamudi C, Mehine M] Department of Pathology and Laboratory Medicine, Memorial Sloan Kettering Cancer Center, New York, USA. [George A] Division of Genetics and Epidemiology, The Institute of Cancer Research, London, UK. The Royal Marsden NHS Foundation Trust, London, UK. [Mateo J] Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Turnbull, Clare
Source: Scientia
Scientia. Dipòsit d'Informació Digital del Departament de Salut
instnameSubject Terms: PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, 0301 basic medicine, Genes, BRCA2, germline, Càncer - Aspectes genètics, TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS::terapéutica::medicina de precisión, DISEASES::Neoplasms, 03 medical and health sciences, cancer-susceptibility genes, Gene Frequency, Neoplasms, germline conversion rate, Humans, Genetic Predisposition to Disease, Medicina personalitzada, Precision Medicine, Germ-Line Mutation, variants, 0303 health sciences, tumour-only sequencing, BRCA2, ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT::Therapeutics::Precision Medicine, 3. Good health, Anomalies cromosòmiques, Genes, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal, ENFERMEDADES::neoplasias
Linked Full TextFile Description: application/pdf; Print-Electronic
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11Academic Journal
Authors: Rofes, Paula, Duenas Cid, Nuria, del Valle, Jesús, Navarro, Matilde, Balmaña, Judith, Ramon y Cajal, Teresa
Contributors: Institut Català de la Salut, Rofes P, Dueñas N, del Valle J Hereditary Cancer Program, Catalan Institute of Oncology, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d'Investigació Biomèdica de Bellvitge – IDIBELL, L'Hospitalet de Llobregat, Spain. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. Navarro M Hereditary Cancer Program, Catalan Institute of Oncology, Molecular Mechanisms and Experimental Therapy in Oncology Program, Institut d'Investigació Biomèdica de Bellvitge – IDIBELL, L'Hospitalet de Llobregat, Spain. Balmaña J Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Vall d’Hebron Hospital Universitari, Barcelona, Spain. Ramón y Caja T Medical Oncology Department, Hospital de la Santa Creu i Sant Pau, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
Source: Scientia
Subject Terms: Càncer - Aspectes genètics, Malalties congènites, Anomalies cromosòmiques, DISEASES::Neoplasms, DISEASES::Congenital, Hereditary, and Neonatal Diseases and Abnormalities::Genetic Diseases, Inborn::Neoplastic Syndromes, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, ENFERMEDADES::neoplasias, ENFERMEDADES::enfermedades y anomalías neonatales congénitas y hereditarias::enfermedades genéticas congénitas::síndromes neoplásicos hereditarios, Mutacion Linea Germinal
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Relation: Cancer Medicine;13(7); https://doi.org/10.1002/cam4.7041; https://hdl.handle.net/11351/11300; 001194464900001
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12Academic Journal
Authors: Romey, Marcel, Llort, Gemma, Torres-Esquius, Sara, Llop-Guevara, Alba, Gutiérrez-Enríquez, Sara, Teule, Alex, Serra, Violeta, Balmaña, Judith
Contributors: Institut Català de la Salut, Torres-Esquius S, Gutiérrez-Enríquez S Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Llop-Guevara A Experimental Therapeutics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Translational Medicine, DNA Damage Response Department, AstraZeneca, Barcelona, Spain. Romey M Institute of Pathology, Universitätsklinikum Marburg, Marburg, Germany. Teulé À Hereditary Cancer Program, Catalan Institute of Oncology, Bellvitge Biomedical Research Institute (IDIBELL), Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. Llort G Department of Medical Oncology, Hospital Universitari Parc Taulí, Sabadell, Spain. Serra V Experimental Therapeutics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Balmaña J Hereditary Cancer Genetics Group, 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: Scientia
Subject Terms: Mama - Càncer - Aspectes genètics, Ovaris - Càncer - Aspectes genètics, Recombinació genètica, Anomalies cromosòmiques, DISEASES::Neoplasms::Neoplasms by Site::Endocrine Gland Neoplasms::Ovarian Neoplasms, DISEASES::Neoplasms::Neoplasms by Site::Breast Neoplasms, PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, PHENOMENA AND PROCESSES::Genetic Phenomena::Recombination, Genetic::Homologous Recombination, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de las glándulas endocrinas::neoplasias ováricas, ENFERMEDADES::neoplasias::neoplasias por localización::neoplasias de la mama, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal, FENÓMENOS Y PROCESOS::fenómenos genéticos::recombinación genética::recombinación homóloga
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Relation: JAMA Network Open;7(4); https://doi.org/10.1001/jamanetworkopen.2024.7811; info:eu-repo/grantAgreement/ES/PE2017-2020/PI19%2F01303; info:eu-repo/grantAgreement/ES/PEICTI2021-2023/PI22%2F01200; https://hdl.handle.net/11351/11391
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13Academic Journal
Authors: Pilar Mur, Sandra García-Mulero, Jesús del Valle, Lorena Magraner-Pardo, August Vidal, Marta Pineda, Giacomo Cinnirella, Edgar Martín-Ramos, Tirso Pons, Adriana López-Doriga, Sami Belhadj, Lidia Feliubadaló, Pau M. Munoz-Torres, Matilde Navarro, Elia Grau, Esther Darder, Gemma Llort, Judit Sanz, Teresa Ramón y Cajal, Judith Balmana, Joan Brunet, Victor Moreno, Josep M. Piulats, Xavier Matías-Guiu, Rebeca Sanz-Pamplona, Rosa Aligué, Gabriel Capellá, Conxi Lázaro, Laura Valle
Contributors: Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Generalitat de Catalunya, Fundación Olga Torres, European Cooperation in Science and Technology, Consejo Superior de Investigaciones Científicas [https://ror.org/02gfc7t72], Universitat Autònoma de Barcelona, [Mur P, Del Valle J, Pineda M] Hereditary Cancer Program, Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain. Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain. Centro de Investigación Biomédica en Red de Cáncer (CIBERONC), Madrid, Spain. [García-Mulero S] Program in Molecular Mechanisms and Experimental Therapy in Oncology (Oncobell), IDIBELL, Hospitalet de Llobregat, Barcelona, Spain. Oncology Data Analytics Program (ODAP), Catalan Institute of Oncology, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain. [Magraner-Pardo L] Prostate Cancer Clinical Research Unit. Spanish National Cancer Research Center (CNIO), Madrid, Spain. [Vidal A] Department of Pathology, Bellvitge University Hospital, IDIBELL, Hospitalet de Llobregat, Barcelona, Spain. [Balmana J] Servei d’Oncologia Mèdica, Vall d’Hebron Hospital Universitari, Barcelona, Spain. Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
Source: Genet Med
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
instname
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
Dipòsit Digital de la UB
Universidad de Barcelona
Repositori Obert UdL
Articles publicats en revistes (Patologia i Terapèutica Experimental)
Scientia
Scientia. Dipòsit d'Informació Digital del Departament de SalutSubject Terms: PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, 0301 basic medicine, Polymerase proofreading–associated polyposis, Polymerase proofreading-associated polyposis, Recte - Càncer - Aspectes genètics, Còlon - Càncer - Aspectes genètics, Article, PPAP, 03 medical and health sciences, Endometrial cancer, Càncer colorectal, Malalties hereditàries, Ultramutated phenotype, Humans, Poly-ADP-Ribose Binding Proteins, DISEASES::Neoplasms::Neoplasms::Neoplastic Syndromes, Hereditary::Colorectal Neoplasms, Hereditary Nonpolyposis, Germ-Line Mutation, Exonuclease domain, DNA Polymerase III, 0303 health sciences, Malalties transmissibles - Teoria germinal, DNA Polymerase II, Colorectal cancer, 3. Good health, Hereditary, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal, Càncer d'endometri, Hereditary colorectal cancer, Mutation, Colorectal Neoplasms, ENFERMEDADES::neoplasias::neoplasias::síndromes neoplásicos hereditarios::neoplasias colorrectales hereditarias sin poliposis, Genetic diseases
File Description: application/pdf
Access URL: https://www.nature.com/articles/s41436-020-0922-2.pdf
https://pubmed.ncbi.nlm.nih.gov/32792570
http://hdl.handle.net/10261/229733
http://hdl.handle.net/2445/172316
https://hdl.handle.net/2445/172316
https://hdl.handle.net/11351/6496
https://www.nature.com/articles/s41436-020-0922-2.pdf
https://www.nature.com/articles/s41436-020-0922-2
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7708298
http://diposit.ub.edu/dspace/handle/2445/172316
https://www.ncbi.nlm.nih.gov/pubmed/32792570
https://digital.csic.es/handle/10261/229733 -
14Academic Journal
Authors: Anke Reinacher-Schick, Talia Golan, Joon Oh Park, Dirk Arnold, Do Youn Oh, Pascal Hammel, Giampaolo Tortora, Michele Reni, Hedy L. Kindler, Katia Schlienger, Michael J. Hall, Eileen M. O'Reilly, Eric Van Cutsem, David McGuinness, Gershon Y. Locker, Teresa Macarulla, Daniel Hochhauser, Hana Algül, Karen Y. Cui
Contributors: [Golan T] Oncology Institute, Sheba Medical Center, Tel Aviv, Israel. Tel Aviv University, Tel Aviv, Israel. [Hammel P] Hôpital Beaujon (Assistance Publique–Hopitaux de Paris), Clichy, France. University Paris VII, Paris, France. [Reni M] IRCCS Ospedale San Raffaele Scientific Institute, Milan, Italy. [Van Cutsem E] University Hospitals Gasthuisberg and KU Leuven, Leuven, Belgium. [Macarulla T ] Hospital Universitari Vall d’Hebron , Barcelona, Spain. Vall d'Hebron Institut de Recerca (VHIR), Barcelona, Spain. [Hall MJ] Fox Chase Cancer Center, Philadelphia, USA., Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus
Source: Scientia
Recercat: Dipósit de la Recerca de Catalunya
Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Recercat. Dipósit de la Recerca de Catalunya
instname
Scientia. Dipòsit d'Informació Digital del Departament de SalutSubject Terms: PHENOMENA AND PROCESSES::Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation, fenómenos genéticos::variación genética::mutación::mutación de la línea germinal [FENÓMENOS Y PROCESOS], Adult, Male, 0301 basic medicine, Genes, BRCA2, Genes, BRCA1, Antineoplastic Agents, Kaplan-Meier Estimate, Adenocarcinoma, Digestive System Diseases::Digestive System Neoplasms::Digestive System Diseases::Pancreatic Neoplasms [DISEASES], Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation [PHENOMENA AND PROCESSES], Piperazines, Medicaments antineoplàstics, Maintenance Chemotherapy, 03 medical and health sciences, 0302 clinical medicine, Double-Blind Method, Humans, ENFERMEDADES::enfermedades del sistema digestivo::neoplasias del sistema digestivo::enfermedades del sistema digestivo::neoplasias pancreáticas, Neoplasm Metastasis, Germ-Line Mutation, Aged, Aged, 80 and over, Gens del càncer, Pàncrees - Tumors, acciones y usos químicos::acciones farmacológicas::usos terapéuticos::antineoplásicos [COMPUESTOS QUÍMICOS Y DROGAS], Middle Aged, Female, Pancreatic Neoplasms, Phthalazines, Progression-Free Survival, 3. Good health, FENÓMENOS Y PROCESOS::fenómenos genéticos::variación genética::mutación::mutación de la línea germinal, COMPUESTOS QUÍMICOS Y DROGAS::acciones y usos químicos::acciones farmacológicas::usos terapéuticos::antineoplásicos, enfermedades del sistema digestivo::neoplasias del sistema digestivo::enfermedades del sistema digestivo::neoplasias pancreáticas [ENFERMEDADES], Chemical Actions and Uses::Pharmacologic Actions::Therapeutic Uses::Antineoplastic Agents [CHEMICALS AND DRUGS], DISEASES::Digestive System Diseases::Digestive System Neoplasms::Digestive System Diseases::Pancreatic Neoplasms, 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/31157963
http://hdl.handle.net/11351/4637
https://hdl.handle.net/11351/4637
https://discovery.ucl.ac.uk/id/eprint/10076576/
https://pubmed.ncbi.nlm.nih.gov/31157963/
https://snucm.elsevierpure.com/en/publications/maintenance-olaparib-for-germline-brca-mutated-metastatic-pancrea
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6810605/figure/F3/
https://moh-it.pure.elsevier.com/en/publications/maintenance-olaparib-for-germline-brca-mutated-metastatic-pancrea
https://www.nejm.org/doi/full/10.1056/NEJMoa1903387
https://hdl.handle.net/20.500.11768/124130
https://discovery-pp.ucl.ac.uk/id/eprint/10076576/