نتائج البحث - "Sara Torres-Esquius"

المساهمون: Medicum, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, Helsinki University Hospital Area, University of Helsinki, HUS Gynecology and Obstetrics, Biosciences, Department of Obstetrics and Gynecology

المصدر: Silvestri, V, Leslie, G, Barnes, D R & The CIMBA Group 2020, ' Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants : Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) ', JAMA Oncology, vol. 6, no. 8, pp. 1218-1230 . https://doi.org/10.1001/jamaoncol.2020.2134
JAMA Oncol
Silvestri, V, Leslie, G, Barnes, D R, and the CIMBA Group & Pedersen, I S 2020, ' Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants : Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) ', JAMA Oncology, vol. 6, no. 8, pp. 1218-1230 . https://doi.org/10.1001/jamaoncol.2020.2134
CIMBA Group 2020, ' Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants : Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) ', JAMA oncology, vol. 6, no. 8, pp. 1218-1230 . https://doi.org/10.1001/jamaoncol.2020.2134
Silvestri, V, Leslie, G, Barnes, D R & CIMBA Consortium 2020, ' Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants : Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) ', JAMA Oncology, vol. 6, no. 8, pp. 1218-1230 . https://doi.org/10.1001/jamaoncol.2020.2134

مصطلحات موضوعية: Male, Cancer Research, endocrine system diseases, GUIDELINES, 0302 clinical medicine, Neoplasms, Medicine, 030212 general & internal medicine, Prospective cohort study, skin and connective tissue diseases, GENE-ENVIRONMENT INTERACTION, Original Investigation, RISK, Aged, 80 and over, education.field_of_study, BRCA1 Protein, Middle Aged, BRCA2 Protein/genetics, 3. Good health, PROSTATE-CANCER, Phenotype, Oncology, 030220 oncology & carcinogenesis, Male breast cancer, Cohort study, Adult, medicine.medical_specialty, Adolescent, Population, 3122 Cancers, MUTATION CARRIERS, 03 medical and health sciences, Young Adult, Breast cancer, Internal medicine, BREAST-CANCER, Humans, education, Germ-Line Mutation, Aged, Retrospective Studies, BRCA2 Protein, business.industry, Cancer, Correction, Retrospective cohort study, Odds ratio, medicine.disease, BRCA1 Protein/genetics, business, Neoplasms/diagnosis

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af70047ce68cfa6b8f9aab53294ab42e
https://pure.au.dk/portal/da/publications/characterization-of-the-cancer-spectrum-in-men-with-germline-brca1-and-brca2-pathogenic-variants(cf83d5bf-b11a-4ce3-a411-d89a202a7ba3).html

7

Association of premenopausal risk-reducing salpingo-oophorectomy with breast cancer risk in BRCA1/2 mutation carriers: Maximising bias-reduction

المؤلفون: Kevin T. Nead, Susan M. Domchek, Teresa Ramón y Cajal, Katherine L. Nathanson, Montserrat Rué, Neda Stjepanovic, Judith Balmaña, Joan Brunet, Gemma Llort, Rodrigo Dienstmann, Guadalupe Gómez Melis, Sara Torres-Esquius, Guillermo Villacampa, Alexandre Teule

المساهمون: Universitat Politècnica de Catalunya. Departament d'Estadística i Investigació Operativa, Universitat Politècnica de Catalunya. GRBIO - Grup de Recerca en Bioestadística i Bioinformàtica

المصدر: UPCommons. Portal del coneixement obert de la UPC
Universitat Politècnica de Catalunya (UPC)

مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, endocrine system diseases, medicine.medical_treatment, 0302 clinical medicine, Prospective Studies, skin and connective tissue diseases, education.field_of_study, medicine.diagnostic_test, BRCA1 Protein, Hazard ratio, Matemàtiques i estadística [Àrees temàtiques de la UPC], Multi-state model, Middle Aged, Prognosis, 3. Good health, 030220 oncology & carcinogenesis, Female, Mastectomy, Adult, medicine.medical_specialty, Population, Salpingo-oophorectomy, Breast Neoplasms, 03 medical and health sciences, Young Adult, Breast cancer, BRCA1/2, Internal medicine, medicine, Humans, Risk reduction methodology, Genetic Testing, education, Germ-Line Mutation, Genetic testing, Retrospective Studies, BRCA2 Protein, business.industry, Cancer, medicine.disease, Confidence interval, 90 Operations research, mathematical programming [Classificació AMS], 030104 developmental biology, Premenopause, Sample size determination, Systematic review, business, Breast cancer risk, Risk Reduction Behavior, Follow-Up Studies

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https://pubmed.ncbi.nlm.nih.gov/32325420

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8

Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification

المؤلفون: Luigi Mori, Sara González, Elia Grau, Dieter Niederacher, Alexandra C. Kölbl, Ares Solanes, Cassandra B. Nichols, Marine Guillaud-Bataille, Ulrike Schoenwiese, Katherine L. Nathanson, Alfons Meindl, Ellen Honisch, Hans Ehrencrona, Ute Enders, Anke Waha, Trinidad Caldés, Inge Søkilde Pedersen, Ana Blanco, Emma Tudini, Conxi Lázaro, Paolo Radice, Torben A Kruse, María Concepción Alonso-Cerezo, Chantal Farra, Shan Wang-Gohrke, Wilko Weichert, Heli Nevanlinna, Setareh Moghadasi, Bernd Auber, Carla Bruzzone, Aliana Guerrieri-Gonzaga, Sabine Grill, Raymonda Varon, Nicolas Derive, Ana Vega, Nicolai Maass, Åke Borg, Cora M. Aalfs, Nadia Naldi, Silvia Iglesias, Kai Ren Ong, Encarna B. Gomez Garcia, Karl Hackmann, Emma R. Woodward, Norbert Arnold, David E. Goldgar, Bernard Peissel, Karolin Bucksch, Berardino Porfirio, Françoise Révillion, Angel Izquierdo, Isabell Witzel, Sebastian Wagner, Silke Zachariae, Elisa Alducci, Mads Thomassen, Jesús del Valle, Valentina Zampiga, Kerstin Rhiem, Lidia Moserle, Edenir Inêz Palmero, Maaike P.G. Vreeswijk, Christoph Mundhenke, Laura Papi, Alejandro Moles-Fernández, Paula Rofes, Ulrike Faust, Andrea Gehrig, Sandrine M. Caputo, Logan C. Walker, Fiona Lalloo, Ute Felbor, Joan Brunet, Henriette Roed Nielsen, Sean V. Tavtigian, Beatrice Bortesi, Thomas Hansen, Maria Grazia Tibiletti, Estela Carrasco, Lisa Wiesmüller, Viviana Gismondi, Sophie Krieger, Pedro Pérez-Segura, Esther Pohl-Rescigno, Emanuela Lucci-Cordisco, Barbara Wappenschmidt, Rui Manuel Reis, Gabriele Lorenzo Capone, Ileana Carnevali, Christi J. van Asperen, KCon Fab Investigators, Jochen Seggewiß, Rhiannon J. Walters, Irmgard Debatin, Susan M. Domchek, Marco Montagna, Francesca Gensini, Kristiina Aittomäki, Véronique Dutrannoy, Arcangela De Nicolo, Giulia Cagnoli, Elisa J. Cops, Henrique de Campos Reis Galvão, Giulia Cini, Barbara Riboli, Eva Tornero, Paul A. James, Judith Balmaña, Anne-Marie Gerdes, Heide Hellebrand, Miriam Fine, Mathias Stiller, Aldo Germani, Diana Eccles, Britta Blümcke, Dominique Stoppa-Lyonnet, Elena Leinert, Alexandra Lewis, Daniela Rivera, Verena Hübbel, Fergus J. Couch, Gunnar Schmidt, Katharina Keupp, Bernhard H. F. Weber, Tilman Heinrich, Mariarosaria Calvello, Michael Dean, Udo Jeschke, Vanessa Lattimore, Linda A.M. Janssen, Siranoush Manoukian, Eva Gross, Kelly J. Sullivan, Doris Steinemann, Susanne Ledig, Alessandra Viel, Christoph Engel, Ana Sánchez de Abajo, Nina Ditsch, Sandra Bonache, Maria A. Caligo, Katharina Pfeifer, Thomas Haaf, Christian Sutter, Eric Hahnen, Laura Matricardi, Marc Tischkowitz, Alex Teulé, Katherine M. Tucker, Jutta Giesecke, Silvia Tognazzo, Gemma Montalban, Carolina Gómez, Anders Kvist, Joanna Lim, Alison H. Trainer, Rachel Susman, Judit Horvath, Amanda B. Spurdle, Mirjam Larsen, Therese Törngren, Mónica Salinas, Nicholas Pachter, Rachel Austin, Nicola K. Poplawski, C Zeder-Göß, Juliane Ramser, Julia Ritter, Anne Sophie Vesper, Paola Concolino, D. Gareth Evans, Clemens R. Müller, Matilde Navarro, Sara Torres-Esquius, Claus R. Bartram, Laura Cortesi, Jacopo Azzollini, Marion Harris, Edward M. Clarke, Marion Kiechle, Lídia Feliubadaló, Almuth Caliebe, Karen N. Herold, Charlotte Kvist Lautrup, Anne S. Quante, Gardenia Vargas-Parra, Michael T. Parsons, Pietro Cavalli, Hongyan Li, Rodrigo Augusto Depieri Michelli, Irene Feroce, Achim Wöckel, Kerstin Wieland, Silke Kaulfuß, Soo Hwang Teo, Angela Velasco, Capucine Delnatte, Marta Pineda, Marion van Mackelenbergh, Eva Montes, Angela Toss, Rita K. Schmutzler, William D. Foulkes, Alvaro N.A. Monteiro, Jan Hauke, Monica Marabelli, Miguel de la Hoya, Sara Gutiérrez-Enríquez, Esther Darder, Simona Agata, Amanda E. Toland, Bernardo Bonanni, Liliana Varesco, Orland Diez, Andreas Rump, Virginie Caux-Moncoutier, Gaetana Gambino, Markus Loeffler, Claude Houdayer, Elena Barbieri, Adrià López-Fernández

المساهمون: et. al., Universidade do Minho, QIMR Berghofer Medical Research Institute, Chinese Academy of Geological Sciences [Beijing] (CAGS), Ministry of Land and Resources (MLR), Department of Gynaecology and Obstetrics, University Hospital of Cologne [Cologne]-Centre of Familial Breast and Ovarian Cancer-Centre for Integrated Oncology (CIO), Programa de Càncer Hereditari, Unitat de Diagnòstic Molecular, Laboratori de Recerca Translacional, Institut Català d'Oncologia-IDIBELL, Department of Clinical Genetics, Academic Medical Center - Academisch Medisch Centrum [Amsterdam] (AMC), University of Amsterdam [Amsterdam] (UvA)-University of Amsterdam [Amsterdam] (UvA), Helsinki University Central Hospital, University Hospital of Schleswig-Holstein-Christian-Albrechts-Universität zu Kiel (CAU), Università degli Studi di Milano [Milano] (UNIMI), Medical Oncology Department, Vall d'Hebron University Hospital [Barcelona], Institute of Human Genetics, Universität Heidelberg [Heidelberg], Fundación Pública Galega de Medicina Xenómica-SERGAS & Grupo de Medicina Xenómica-USC, CIBER-ER, Division of Cancer Prevention and Genetics, Department of Oncology, Clinical Sciences, Lund University [Lund]-Skåne University Hospital, Genetic Counseling and Hereditary Cancer Programme, Catalan Institute of Oncology, Molecular Oncology Laboratory, Hospital Clínico San Carlos, Institut Curie [Paris], Programa de Consell Genètic en Càncer, Institut Català d'Oncologia, Girona-IdIBGi, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos [Madrid, Spain] (IdISSC), Centre René Gauducheau, CRLCC René Gauducheau, Institut de biochimie et génétique cellulaires (IBGC), Université Bordeaux Segalen - Bordeaux 2-Centre National de la Recherche Scientifique (CNRS), Oncogenetics Laboratory, Vall d'Hebron Institute of Oncology (VHIO), Ludwig-Maximilians-Universität München (LMU), Charité - UniversitätsMedizin = Charité - University Hospital [Berlin], Genetics, University of Southampton, Departament of Genetics and Pathology, Uppsala University-Rudbeck Laboratory, Department of Genomic Medicine, University of Manchester [Manchester], Department of Medical Genetics, Julius-Maximilians-Universität Würzburg [Wurtzbourg, Allemagne] (JMU)-Centre of Familial Breast and Ovarian Cancer, Obstetrics and Gynaecology, Technische Universität Munchen - Université Technique de Munich [Munich, Allemagne] (TUM), Institüt für Humangenetik [Würzburg], Julius-Maximilians-Universität Würzburg [Wurtzbourg, Allemagne] (JMU), Heinrich Heine Universität Düsseldorf = Heinrich Heine University [Düsseldorf], Institute of Chemistry [Budapest], Faculty of Sciences [Budapest], Eötvös Loránd University (ELTE)-Eötvös Loránd University (ELTE), Service de Biochimie et de Biologie Moléculaire [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), I. Frauenklinik, Klinikum der Ludwig-Maximilians-Universitaet, Centre Régional de Lutte contre le Cancer François Baclesse [Caen] (UNICANCER/CRLC), Normandie Université (NU)-UNICANCER-Tumorothèque de Caen Basse-Normandie (TCBN), Génomique et Médecine Personnalisée du Cancer et des Maladies Neuropsychiatriques (GPMCND), Université de Rouen Normandie (UNIROUEN), Normandie Université (NU)-Normandie Université (NU)-Institut National de la Santé et de la Recherche Médicale (INSERM), Department of Biochemistry, Pharmacology and Genetics, Odense University Hospital, Department of Oncology, Lund University [Lund]-Clinical Sciences, Genetic Medicine, Manchester Academic Health Sciences Centre-Central Manchester University Hospitals, Institute for Medical Informatics, Department of Gynecology and Obstetrics, University Medical Center Schleswig-Holstein, Unit of Medical Genetics, Fondazione IRCCS Istituto Nazionale Tumouri (INT), Immunology and Molecular Oncology Unit, Istituto Oncologico Veneto IOV - IRCCS, University Medical Center Kiel, Department of Obstetrics and Gynecology, University Hospital Düsseldorf-Heinrich Heine Universität Düsseldorf = Heinrich Heine University [Düsseldorf], Medical Genetics Unit, Università degli Studi di Firenze = University of Florence [Firenze] (UNIFI), Department of Biochemistry, Section of Molecular Diagnostics, Laboratoire d'Oncologie Moléculaire Humaine, Centre Régional de Lutte contre le Cancer Oscar Lambret [Lille] (UNICANCER/Lille), Université Lille Nord de France (COMUE)-UNICANCER-Université Lille Nord de France (COMUE)-UNICANCER, Institute of Cell and Molecular Pathology, Medizinische Hochschule Hannover (MHH), University of California [Santa Cruz] (UCSC), University of California, Heidelberg University Hospital [Heidelberg], International Agency for Cancer Research (IACR), Programa de Consejo Genético en Cáncer, Instituto Catalán de Oncología-IDIBELL, L'Hospitalet, Programa de Diagnòstic Molecular de Càncer Hereditari, Laboratori de Recerca Translacional, Institut Català d'Oncologia-IDIBELL, Hospital Duran i Reynals, Hospitalet de Llobregat, Unit of Hereditary Cancers, Istituto Nazionale per la Ricerca sul Cancro, CIBER de Enfermedades Raras (CIBERER), Unit of Experimental Oncology 1, Centro di Riferimento Oncologico, University of Otago [Dunedin, Nouvelle-Zélande], Institute of Pathology, Department of Gynecology, Universitaetsklinikum Hamburg-Eppendorf = University Medical Center Hamburg-Eppendorf [Hamburg] (UKE), King‘s College London, Molecular Diagnostic Unit, IDIBELL-Catalan Institute of Oncology, Unit of Molecular Bases of Genetic Risk and Genetic Testing, Fondazione IRCCS Istituto Nazionale Tumouri (INT)-Fondazione Istituto FIRC di Oncologia Molecolare, Institute for Medical Informatics, Statistics and Epidemiology [Leipzig] (IMISE), Universität Leipzig [Leipzig], Division of Molecular Gynaeco-Oncology, Department of Gynaecology and Obstetrics, Clinical Center University of Cologne, Medicum, Research Programs Unit, Genome-Scale Biology (GSB) Research Program, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, HUS Gynecology and Obstetrics, University Management, University of Helsinki, Università degli Studi di Milano = University of Milan (UNIMI), Universität Heidelberg [Heidelberg] = Heidelberg University, Department of Genetics and Pathology, Uppsala University, Julius-Maximilians-Universität Würzburg (JMU)-Centre of Familial Breast and Ovarian Cancer, Julius-Maximilians-Universität Würzburg (JMU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Università degli Studi di Firenze = University of Florence (UniFI), Université de Lille-UNICANCER-Université de Lille-UNICANCER, University of California [Santa Cruz] (UC Santa Cruz), University of California (UC), Universität Leipzig, University of Cologne, RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Polikliniek (9), Klinische Genetica

المصدر: Evans, D G, Lalloo, F, Woodward, E & et al. 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification ', Human Mutation . https://doi.org/10.1002/humu.23818
Human Mutation
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instname
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Darder, E, de la Hoya, M, Dean, M, Debatin, I, del Valle, J, Delnatte, C, Derive, N, Diez, O, Ditsch, N, Domchek, S M, Dutrannoy, V, Eccles, D M, Ehrencrona, H, Enders, U, Evans, D G, Faust, U, Felbor, U, Feroce, I, Fine, M, Galvao, H C R, Gambino, G, Gehrig, A, Gensini, F, Gerdes, A-M, Germani, A, Giesecke, J, Gismondi, V, Gómez, C, Gómez Garcia, E B, González, S, Grau, E, Grill, S, Gross, E, Guerrieri-Gonzaga, A, Guillaud-Bataille, M, Gutiérrez-Enríquez, S, Haaf, T, Hackmann, K, Hansen, T V O, Harris, M, Hauke, J, Heinrich, T, Hellebrand, H, Herold, K N, Honisch, E, Horvath, J, Houdayer, C, Hübbel, V, Iglesias, S, Izquierdo, A, James, P A, Janssen, L A M, Jeschke, U, Kaulfuß, S, Keupp, K, Kiechle, M, Kölbl, A, Krieger, S, Kruse, T A, Kvist, A, Lalloo, F, Larsen, M, Lattimore, V L, Lautrup, C, Ledig, S, Leinert, E, Lewis, A L, Lim, J, Loeffler, M, López-Fernández, A, Lucci-Cordisco, E, Maass, N, Manoukian, S, Marabelli, M, Matricardi, L, Meindl, A, Michelli, R D, Moghadasi, S, Moles-Fernández, A, Montagna, M, Montalban, G, Monteiro, A N, Montes, E, Mori, L, Moserle, L, Müller, C R, Mundhenke, C, Naldi, N, Nathanson, K L, Navarro, M, Nevanlinna, H, Nichols, C B, Niederacher, D, Nielsen, H R, Ong, K, Pachter, N, Palmero, E I, Papi, L, Pedersen, I S, Peissel, B, Pérez-Segura, P, Pfeifer, K, Pineda, M, Pohl-Rescigno, E, Poplawski, N K, Porfirio, B, Quante, A S, Ramser, J, Rei, R M, Revillion, F, Rhiem, K, Riboli, B, Ritter, J, Rivera, D, Rofes, P, Rump, A, Salinas, M, Sánchez de Abajo, A M, Schmidt, G, Schoenwiese, U, Seggewiß, J, Solanes, A, Steinemann, D, Stiller, M, Stoppa-Lyonnet, D, Sullivan, K J, Susman, R, Sutter, C, Tavtigian, S V, Teo, S H, Teulé, A, Thomassen, M, Tibiletti, M G, Tognazzo, S, Toland, A E, Tornero, E, Törngren, T, Torres-Esquius, S, Toss, A, Trainer, A H, van Asperen, C J, van Mackelenbergh, M T, Varesco, L, Vargas-Parra, G, Varon, R, Vega, A, Velasco, Á, Vesper, A-S, Viel, A, Vreeswijk, M P G, Wagner, S A, Waha, A, Walker, L C, Walters, R J, Wang-Gohrke, S, Weber, B H F, Weichert, W, Wieland, K, Wiesmüller, L, Witzel, I, Wöckel, A, Woodward, E R, Zachariae, S, Zampiga, V, Zeder-Göß, C, KConFab Investigators, Lázaro, C, De Nicolo, A, Radice, P, Engel, C, Schmutzler, R K, Goldgar, D E & Spurdle, A B 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
Dipòsit Digital de la UB
Universidad de Barcelona
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Human Mutation, 40(9), 1557-1578. WILEY
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Gerdes, A-M, Hansen, T V O, Kruse, T A, Nielsen, H R, Pedersen, I S, Lautrup, C K, Thomassen, M & kConFab Investigators 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
Human Mutation, Wiley, 2019, 40 (9), pp.1557-1578. ⟨10.1002/humu.23818⟩
Parsons, M T, Tudini, E, Li, H, Hahnen, E, Wappenschmidt, B, Feliubadaló, L, Aalfs, C M, Agata, S, Aittomäki, K, Alducci, E, Alonso-Cerezo, M C, Arnold, N, Auber, B, Austin, R, Azzollini, J, Balmaña, J, Barbieri, E, Bartram, C R, Blanco, A, Blümcke, B, Bonache, S, Bonanni, B, Borg, Å, Bortesi, B, Brunet, J, Bruzzone, C, Bucksch, K, Cagnoli, G, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Capone, G L, Caputo, S M, Carnevali, I, Carrasco, E, Caux-Moncoutier, V, Cavalli, P, Cini, G, Clarke, E M, Concolino, P, Cops, E J, Cortesi, L, Couch, F J, Darder, E, de la Hoya, M, Dean, M, Gerdes, A-M, Hansen, T V O, Wagner, S A & kConFab Investigators 2019, ' Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants : An ENIGMA resource to support clinical variant classification ', Human Mutation, vol. 40, no. 9, pp. 1557-1578 . https://doi.org/10.1002/humu.23818
Human Mutation, 2019, 40 (9), pp.1557-1578. ⟨10.1002/humu.23818⟩
Human Mutation, 40(9), 1557-1578. Wiley

مصطلحات موضوعية: Male, Multifactorial Inheritance, BRCA1, BRCA2, classification, clinical, multifactorial, quantitative, uncertain significance, variant, Alternative Splicing, BRCA1 Protein, BRCA2 Protein, Computational Biology, Early Detection of Cancer, Female, Genetic Predisposition to Disease, Humans, Likelihood Functions, Neoplasms, Mutation, Missense, Medicina Básica [Ciências Médicas], Settore MED/03 - GENETICA MEDICA, GUIDELINES, Genetic analysis, CLINGEN, SEQUENCE VARIANTS, Missense mutation, FUNCTIONAL ASSAYS, Genetics (clinical), BRCA1, BRCA2, quantitative, clinical, classification, multifactorial, variant, uncertain significance, 0303 health sciences, education.field_of_study, 030305 genetics & heredity, 1184 Genetics, developmental biology, physiology, SPLICING ANALYSIS, OVARIAN, BRCA2 Protein/genetics, 3. Good health, ddc, Mutation (genetic algorithm), Ciências Médicas::Medicina Básica, Medical genetics, Special Articles, medicine.medical_specialty, Posterior probability, Population, Computational biology, Biology, INTEGRATED EVALUATION, 03 medical and health sciences, Special Article, medicine, Genetics, BREAST-CANCER, Genetic variability, ddc:610, education, 030304 developmental biology, Tumors, Science & Technology, Proteins, Computational Biology/methods, RISKS, Mutation, BRCA1 Protein/genetics, 3111 Biomedicine, Missense, Proteïnes, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology, Genètica, Neoplasms/diagnosis

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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e8c9e523f0496e5d186957a0c3bd3df
https://doi.org/10.1002/humu.23818

View record at Wiley

9

Multigene panel testing beyond BRCA1/2 in breast/ovarian cancer Spanish families and clinical actionability of findings

المؤلفون: I. Esteban, Ana Vivancos, Judith Balmaña, Anna Tenés, Francesco M. Mancuso, Ginevra Caratu, Orland Diez, Estela Carrasco, Sara Torres-Esquius, Laura Duran-Lozano, Vanessa Bach, Adrià López-Fernández, Noemí Tuset, Alejandro Moles-Fernández, Sandra Bonache, Sara Gutiérrez-Enríquez, Neus Gadea, Gemma Montalban

المصدر: Journal of cancer research and clinical oncology. 144(12)

مصطلحات موضوعية: 0301 basic medicine, Adult, Cancer Research, Candidate gene, PALB2, Genes, BRCA2, Genes, BRCA1, Biology, 03 medical and health sciences, Young Adult, 0302 clinical medicine, PMS2, medicine, Biomarkers, Tumor, Humans, FANCL, Genetic Predisposition to Disease, Genetic Testing, Predictive testing, Alleles, Genetic testing, Neoplasm Staging, Genetics, Massive parallel sequencing, medicine.diagnostic_test, Cancer, Computational Biology, Genetic Variation, High-Throughput Nucleotide Sequencing, General Medicine, Sequence Analysis, DNA, Middle Aged, medicine.disease, 030104 developmental biology, Oncology, Spain, 030220 oncology & carcinogenesis, Hereditary Breast and Ovarian Cancer Syndrome, Female

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6302a292e0d4270cf4145167d62b6587
https://pubmed.ncbi.nlm.nih.gov/30306255

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