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1
المؤلفون: Pau M. Munoz-Torres, Joan Brunet, Rebeca Sanz-Pamplona, August Vidal, Gemma Llort, Esther Darder, Victor Moreno, Teresa Ramón y Cajal, Laura Valle, Judith Balmaña, Marta Pineda, Tirso Pons, Xavier Matias-Guiu, Jesús del Valle, Lorena Magraner-Pardo, Rosa Aligué, Pilar Mur, Giacomo Cinnirella, Josep M. Piulats, Elia Grau, Lídia Feliubadaló, Sami Belhadj, Adriana Lopez-Doriga, Matilde Navarro, Conxi Lázaro, Sandra García-Mulero, Judit Sanz, Gabriel Capellá, Edgar Martin-Ramos
المساهمون: [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, Ministerio de Economía y Competitividad (España), Instituto de Salud Carlos III, Generalitat de Catalunya, Fundación Olga Torres, European Cooperation in Science and Technology
المصدر: Scientia
Genetics in Medicine
Digital.CSIC. Repositorio Institucional del CSIC
instname
Dipòsit Digital de la UB
Universidad de Barcelonaمصطلحات موضوعية: fenómenos genéticos::variación genética::mutación::mutación de la línea germinal [FENÓMENOS Y PROCESOS], Proband, Polymerase proofreading–associated polyposis, Recte - Càncer - Aspectes genètics, Colorectal cancer, Genetic counseling, Population, Còlon - Càncer - Aspectes genètics, Biology, Article, Genetic Phenomena::Genetic Variation::Mutation::Germ-Line Mutation [PHENOMENA AND PROCESSES], Germline, PPAP, Endometrial cancer, Càncer colorectal, Malalties hereditàries, Ultramutated phenotype, medicine, Humans, Missense mutation, Poly-ADP-Ribose Binding Proteins, education, Allele frequency, Germ-Line Mutation, Genetics (clinical), Exonuclease domain, DNA Polymerase III, Genetics, education.field_of_study, Malalties transmissibles - Teoria germinal, POLD1, ultramutated phenotype, DNA Polymerase II, medicine.disease, polymerase proofreading–associated polyposis, Càncer d'endometri, Neoplasms::Neoplasms::Neoplastic Syndromes, Hereditary::Colorectal Neoplasms, Hereditary Nonpolyposis [DISEASES], Hereditary colorectal cancer, Mutation, hereditary colorectal cancer, neoplasias::neoplasias::síndromes neoplásicos hereditarios::neoplasias colorrectales hereditarias sin poliposis [ENFERMEDADES], exonuclease domain, Colorectal Neoplasms, Genetic diseases
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::359c40a1763da19d13d5833ef08af076Test
https://doi.org/10.1038/s41436-020-0922-2Test -
2
المؤلفون: Marco Montagna, Mark E. Robson, Daniel Barrowdale, Mark H. Greene, Adrià López-Fernández, Miquel Angel Pujana, Paul Brennan, Lucy Side, Jackie Cook, Munaza Ahmed, Christi J. van Asperen, Katherine L. Nathanson, Ian G. Campbell, Shan Wang-Gohrke, Gero Kramer, Debra Frost, Noura Mebirouk, Angel Izquierdo, Conxi Lázaro, Douglas F. Easton, Joe Dennis, Kenneth Offit, Esther Darder, Stefania Tommasi, Angela Toss, Brca, Virginia Valentini, Tu Nguyen-Dumont, Charlotte Kvist Lautrup, Manuel R. Teixeira, Mads Thomassen, Xin Yang, Susan M. Domchek, Valentina Silvestri, Paolo Radice, Marta Venturelli, Joseph Vijai, Pedro Pinto, Caroline Pottinger, Karina Rønlund, Lone Kroeldrup, Paul A. James, Alan Donaldson, Rita K. Schmutzler, Muriel Belotti, Kim De Leeneer, Lesley McGuffog, Susan L. Neuhausen, Amanda E. Toland, Siranoush Manoukian, Vishakha Tripathi, Adalgeir Arason, Pascaline Berthet, Linda Steele, Judit Horvath, Gord Glendon, Goska Leslie, Eva Gross, Anna Coppa, D. J. Gallagher, Payal D. Shah, Hebon Investigators, Alfons Meindl, Orland Diez, Irene L. Andrulis, Angela F. Brady, Giuseppe Damante, Paolo Peterlongo, Ana Sánchez de Abajo, Maria A. Caligo, Alison H. Trainer, Sophie Giraud, Saba Sharif, Christian Sutter, Johanna Rantala, Javier Benitez, Mark T. Rogers, kConFab Investigators, Lídia Feliubadaló, Inge Søkilde Pedersen, Annabeth Høgh Petersen, Jesús del Valle, Agostino Bucalo, Andrea Gehrig, Megan N. Frone, Judith Balmaña, Marc Tischkowitz, Thomas Hansen, Joan Brunet, Ines Zanna, Torben A Kruse, Carole Brewer, Bernard Peissel, Helen Gregory, Mary Porteous, Rosa B. Barkardottir, Andreas Rump, Ros Eeles, Anna Whaite, Saundra S. Buys, Fabienne Lesueur, Lisa Walker, Laura Ottini, Louise Izatt, Antonis C. Antoniou, Georgia Chenevix-Trench, Susanne E. Boonen, Hayley Cassingham, Jacques Simard, Christoph Engel, Patrick J. Morrison, Lise Lotte Christensen, Giulia Cini, Alvaro N.A. Monteiro, Kathleen Claes, Jacqueline Eason, Zoltan Matrai, Uffe Birk Jensen, Kristiina Aittomäki, Ramunas Janavicius, Olufunmilayo I. Olopade, Bjarni A. Agnarsson, Kara N. Maxwell, Julian Barwell, Bernd Auber, Julian Adlard, Esther M. John, Alex Teulé, Miguel de la Hoya, Darcy L. Thull, David E. Goldgar, Alessandra Viel, Dominique Stoppa-Lyonnet, Barbara Wappenschmidt, Phuong L. Mai, Taru A. Muranen, Eric Hahnen, Fergus J. Couch, Laura Matricardi, Domenico Palli, Yen Y. Tan, Julia Hentschel, Florentia Fostira, Ute Hamann, Trinidad Caldés, Rosemarie Davidson, Daniel R. Barnes, Åke Borg, Pedro Pérez-Segura, Aniko Bozsik, Yuan Chun Ding, Dieter Niederacher, Heli Nevanlinna, Helen Hanson, Norbert Arnold, Robin de Putter, Juliane Ramser, Alex Murray, Laura Cortesi, Christian F. Singer, Jacopo Azzollini, Zsofia K. Stadler, Oskar T. Johannsson, Andrew K. Godwin, D. Gareth Evans, Edith Olah, Michael T. Parsons
المساهمون: Medicum, Research Programs Unit, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, University of Helsinki, Helsinki University Hospital Area, Research Program in Systems Oncology, HUS Gynecology and Obstetrics, Department of Obstetrics and Gynecology, Clinicum, Institut Català de la Salut, [Barnes DR, Leslie G, McGuffog L, Dennis J, Yang X] Centre for Cancer Genetic Epidemiology, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK. [Silvestri V] Department of Molecular Medicine, Sapienza University of Rome, Rome, Italy. [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. [Diez O] Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus
المصدر: Barnes, D R, Silvestri, V, Leslie, G, McGuffog, L, Dennis, J, Yang, X, Adlard, J, Agnarsson, B A, Ahmed, M, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Auber, B, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Barwell, J, Belotti, M, Benitez, J, Berthet, P, Boonen, S E, Borg, Å, Bozsik, A, Brady, A F, Brennan, P, Brewer, C, Brunet, J, Bucalo, A, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Cassingham, H, Christensen, L L, Cini, G, Claes, K B M, Cook, J, Coppa, A, Cortesi, L, Damante, G, Darder, E, Davidson, R, de la Hoya, M, Hansen, T V O, Horvath, J, Jensen, U B, Lautrup, C, Pedersen, I S & GEMO Study Collaborators 2022, ' Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores ', Journal of the National Cancer Institute, vol. 114, no. 1, 147, pp. 109-122 . https://doi.org/10.1093/jnci/djab147Test
JNCI Journal of the National Cancer Institute
Barnes, D R, Silvestri, V, Leslie, G, McGuffog, L, Dennis, J, Yang, X, Adlard, J, Agnarsson, B A, Ahmed, M, Aittomäki, K, Andrulis, I L, Arason, A, Arnold, N, Auber, B, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Barwell, J, Belotti, M, Benitez, J, Berthet, P, Boonen, S E, Borg, Å, Bozsik, A, Brady, A F, Brennan, P, Brewer, C, Brunet, J, Bucalo, A, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Cassingham, H, Christensen, L L, Cini, G, Claes, K B M, Cook, J, Coppa, A, Cortesi, L, Damante, G, Darder, E, Davidson, R, de la Hoya, M, De Leeneer, K, de Putter, R, Del Valle, J, Diez, O, Ding, Y C, Domchek, S M, Donaldson, A, Eason, J, Eeles, R, Engel, C, Evans, D G, Feliubadaló, L, Fostira, F, Frone, M, Frost, D, Gallagher, D, Gehrig, A, Giraud, S, Glendon, G, Godwin, A K, Goldgar, D E, Greene, M H, Gregory, H, Gross, E, Hahnen, E, Hamann, U, Hansen, T V O, Hanson, H, Hentschel, J, Horvath, J, Izatt, L, Izquierdo, A, James, P A, Janavicius, R, Jensen, U B, Johannsson, O T, John, E M, Kramer, G, Kroeldrup, L, Kruse, T A, Lautrup, C, Lazaro, C, Lesueur, F, Lopez-Fernández, A, Mai, P L, Manoukian, S, Matrai, Z, Matricardi, L, Maxwell, K N, Mebirouk, N, Meindl, A, Montagna, M, Monteiro, A N, Morrison, P J, Muranen, T A, Murray, A, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Nguyen-Dumont, T, Niederacher, D, Olah, E, Olopade, O I, Palli, D, Parsons, M T, Pedersen, I S, Peissel, B, Perez-Segura, P, Peterlongo, P, Petersen, A H, Pinto, P, Porteous, M E, Pottinger, C, Pujana, M A, Radice, P, Ramser, J, Rantala, J, Robson, M, Rogers, M T, Rønlund, K, Rump, A, Sánchez de Abajo, A M, Shah, P D, Sharif, S, Side, L E, Singer, C F, Stadler, Z, Steele, L, Stoppa-Lyonnet, D, Sutter, C, Tan, Y Y, Teixeira, M R, Teulé, A, Thull, D L, Tischkowitz, M, Toland, A E, Tommasi, S, Toss, A, Trainer, A H, Tripathi, V, Valentini, V, van Asperen, C J, Venturelli, M, Viel, A, Vijai, J, Walker, L, Wang-Gohrke, S, Wappenschmidt, B, Whaite, A, Zanna, I, Offit, K, Thomassen, M, Couch, F J, Schmutzler, R K, Simard, J, Easton, D F, Chenevix-Trench, G, Antoniou, A C, Ottini, L & GEMO Study Collaborators 2022, ' Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores ', Journal of the National Cancer Institute, vol. 114, no. 1, pp. 109-122 . https://doi.org/10.1093/jnci/djab147Test
JNCI-JOURNAL OF THE NATIONAL CANCER INSTITUTE
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of the National Cancer Institute, 114(1), 109-122. OXFORD UNIV PRESS INC
JNCI-Journal of the National Cancer Institute, Oxford : Oxford University Press, 2022, vol. 114, iss. 1, p. 109-122
GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators, BRCA1 & BRCA2 2022, ' Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores ', National Cancer Institute. Journal (Online), vol. 114, no. 1, 147, pp. 109-122 . https://doi.org/10.1093/jnci/djab147Test
Scientia
GEMO Study Collaborators, Kristensen, L K, Jensen, U B, Lautrup, C K & Høgh Petersen, A 2022, ' Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores ', National Cancer Institute. Journal (Online), vol. 114, no. 1, djab147, pp. 109-122 . https://doi.org/10.1093/jnci/djab147Testمصطلحات موضوعية: Oncology, Male, Cancer Research, Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], Genetic Phenomena::Genotype::Genetic Predisposition to Disease [PHENOMENA AND PROCESSES], Diàtesi, polygenic, male breast cancer, PRS, Medical Oncology, Prostate cancer, Breast cancer, 0302 clinical medicine, Prostate, Risk Factors, Medicine and Health Sciences, 80 and over, genetics, skin and connective tissue diseases, Aged, 80 and over, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], 0303 health sciences, education.field_of_study, BRCA1 Protein, Men, Articles, ASSOCIATION, Single Nucleotide, prostate cancer, OVARIAN, BRCA1, BRCA2, 3. Good health, Mutation carriers, medicine.anatomical_structure, Ovarian, 030220 oncology & carcinogenesis, Male breast cancer, Pròstata - Càncer - Aspectes genètics, BRCA2 Protein, Genetic Predisposition to Disease, Heterozygote, Humans, Mutation, Polymorphism, Single Nucleotide, Risk Assessment, Breast Neoplasms, Prostatic Neoplasms, AcademicSubjects/MED00010, medicine.medical_specialty, Neoplasms::Neoplasms by Site::Urogenital Neoplasms::Genital Neoplasms, Male::Prostatic Neoplasms [DISEASES], Urology, 3122 Cancers, Population, Single-nucleotide polymorphism, MUTATION CARRIERS, Càncer de mama, Association, 03 medical and health sciences, Internal medicine, medicine, Polymorphism, education, fenómenos genéticos::genotipo::predisposición genética a la enfermedad [FENÓMENOS Y PROCESOS], 030304 developmental biology, Aged, Càncer de pròstata, business.industry, Cancer, Odds ratio, medicine.disease, neoplasias::neoplasias por localización::neoplasias urogenitales::neoplasias de los genitales masculinos::neoplasias de la próstata [ENFERMEDADES], Homes, Mama - Càncer - Aspectes genètics, business
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c81f6326649ecf1e3ace95b9e9e43d8Test
https://hdl.handle.net/11380/1280528Test -
3
المؤلفون: Carolina Gómez, Joan Brunet, Gabriel Capellá, Eva Montes, Mireia Menéndez, Conxi Lázaro, Marta Pineda, Jesús del Valle, Rafael de Cid, Lídia Feliubadaló, Paula Rofes
المصدر: Scientific Reports
Scientific Reports, Vol 11, Iss 1, Pp 1-7 (2021)
Dipòsit Digital de la UB
Universidad de Barcelona
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instnameمصطلحات موضوعية: Gene isoform, Heredity, Science, Ubiquitin-Protein Ligases, Càncer d'ovari, Breast Neoplasms, Biology, Polymerase Chain Reaction, Germline, Article, Càncer de mama, Frameshift mutation, Exon, Breast cancer, Human genetics, Ovarian cancer, Risk Factors, BARD1, Biomarkers, Tumor, Humans, Genetic Predisposition to Disease, Cancer genetics, Genetics, Gynaecological cancer, Ovarian Neoplasms, Genètica humana, Multidisciplinary, Molecular medicine, Tumor Suppressor Proteins, RNA, Genetic Variation, Alternative Splicing, Case-Control Studies, RNA splicing, Allelic Imbalance, Medicine, Female
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fefbed415b43374fd2e4f6c09ce9703aTest
http://europepmc.org/articles/PMC8617171Test -
4
المؤلفون: Paula Rofes, Álex Teulé, Lídia Feliubadaló, Mònica Salinas, Raquel Cuesta, Sílvia Iglesias, Olga Campos, Sara González, Gabriel Capellá, Joan Brunet, Jesús del Valle, Conxi Lázaro
المصدر: Eur J Hum Genet
مصطلحات موضوعية: Mosaicism, Comment, Genetics, PTEN Phosphohydrolase, Humans, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d579fcc01f935d054c04a38903cfcb9dTest
https://pubmed.ncbi.nlm.nih.gov/35102303Test -
5
المؤلفون: Lídia, Feliubadaló, Adrià, López-Fernández, Marta, Pineda, Orland, Díez, Jesús, Del Valle, Sara, Gutiérrez-Enríquez, Alex, Teulé, Sara, González, Neda, Stjepanovic, Mónica, Salinas, Gabriel, Capellá, Joan, Brunet, Conxi, Lázaro, Judith, Balmaña, Angela, Velasco
المصدر: International Journal of Cancer. 145:2682-2691
مصطلحات موضوعية: Adult, Male, Oncology, Cancer Research, medicine.medical_specialty, Colorectal cancer, Genetic counseling, Gene mutation, DNA Mismatch Repair, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Neoplastic Syndromes, Hereditary, Internal medicine, medicine, Humans, Genes, Tumor Suppressor, Genetic Predisposition to Disease, Genetic Testing, Medical History Taking, CHEK2, Germ-Line Mutation, Aged, Aged, 80 and over, BRCA2 Protein, BRCA1 Protein, business.industry, Age Factors, Cancer, Middle Aged, medicine.disease, Pedigree, MSH6, Phenotype, 030220 oncology & carcinogenesis, Female, DNA mismatch repair, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9eb767d88ae522bad41fabd6c143bb87Test
https://doi.org/10.1002/ijc.32304Test -
6
المؤلفون: Christi J. van Asperen, Leigha Senter, Javier Benitez, Kenneth Offit, Marco Montagna, Irene L. Andrulis, Phuong L. Mai, Yen Y. Tan, Lidia Moserle, Sara Torres-Esquius, Trinidad Caldés, Orland Diez, Daniel R. Barnes, Åke Borg, Daniel Barrowdale, Joanne Ngeow, Siranoush Manoukian, Soo Hwang Teo, Maria A. Caligo, Inge Søkilde Pedersen, Jennifer T. Loud, Marta Santamariña, Amanda E. Toland, Anna Marie Mulligan, Irene Konstantopoulou, Antonis C. Antoniou, Paul A. James, Eitan Friedman, Barbara Wappenschmidt, Marc Tischkowitz, Laura Papi, Ana Osorio, Georgia Chenevix-Trench, Eva Machackova, Pedro Pinto, Keivan Majidzadeh-A, Bernardo Bonanni, Kristiina Aittomäki, Berardino Porfirio, Johanna Rantala, Valentina Silvestri, Bent Ejlertsen, Melissa C. Southey, Ramunas Janavicius, Elisabetta Landucci, Liene Nikitina-Zake, Lajos Géczi, Saundra S. Buys, Angela R. Solano, Sarah Colonna, Ana Vega, Fabienne Lesueur, Frans B. L. Hogervorst, Goska Leslie, David E. Goldgar, Peter J. Hulick, Rosa B. Barkardottir, Kristin K. Zorn, Elisa Alducci, Miguel de la Hoya, Fergus J. Couch, Laura Ottini, Anne-Marie Gerdes, Uffe Birk Jensen, Ute Hamann, Christoph Engel, Allison W. Kurian, Douglas F. Easton, Annabeth Høgh Petersen, Alessandra Viel, Linda Steele, Zoe Steinsnyder, Ava Kwong, Alicia Barroso, Eric Hahnen, Mads Thomassen, Maria Rossing, Rita K. Schmutzler, Wendy K. Chung, Angel Izquierdo, Barak Rosenzweig, Jeroen Vierstraete, Mark H. Greene, Lenka Foretova, Jeffrey N. Weitzel, Paolo Radice, Muhammad Usman Rashid, Katherine L. Nathanson, Lesley McGuffog, Ian G. Campbell, John L. Hopper, Laura Cortesi, Christian F. Singer, Sook-Yee Yoon, Lídia Feliubadaló, Bjarni A. Agnarsson, Susan M. Domchek, Vijai Joseph, Manuel R. Teixeira, Dominique Stoppa-Lyonnet, Nadine Tung, Andrew K. Godwin, Jacques Simard, Yuan Chun Ding, Carlo Capalbo, Florentia Fostira, Greet Wieme, Mary Beth Terry, Kathleen Claes, Olufunmilayo I. Olopade, Pedro Pérez-Segura, Heli Nevanlinna, D. Gareth Evans, Edith Olah, Michael T. Parsons, Claudine Isaacs, Miquel Angel Pujana, Timothy R. Rebbeck, Gord Glendon, Susan L. Neuhausen, Judy Kirk, Sue K. Park, Esther M. John
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.2020.2134Test
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.2020.2134Test
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.2020.2134Test
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.2020.2134Testمصطلحات 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
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af70047ce68cfa6b8f9aab53294ab42eTest
https://pure.au.dk/portal/da/publications/characterization-of-the-cancer-spectrum-in-men-with-germline-brca1-and-brca2-pathogenic-variantsTest(cf83d5bf-b11a-4ce3-a411-d89a202a7ba3).html -
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المؤلفون: Lídia Feliubadaló, Raquel Cuesta, José Marcos Moreno-Cabrera, Bernat Gel, Marta Pineda, Eduard Serra, Joan Brunet, Conxi Lázaro, Sara González, Gabriel Capellá, Olga Campos, Jesús del Valle
المصدر: Journal of medical genetics. 59(1)
مصطلحات موضوعية: musculoskeletal diseases, congenital, hereditary, and neonatal diseases and abnormalities, DNA Copy Number Variations, Computational biology, Germline mutation, Neoplasms, Genetics, medicine, Humans, Mutation detection, Multiplex, Genetic Predisposition to Disease, Multiplex ligation-dependent probe amplification, Genetic Testing, Prospective Studies, Prospective cohort study, Genetics (clinical), Early Detection of Cancer, Genetic testing, Retrospective Studies, medicine.diagnostic_test, business.industry, High-Throughput Nucleotide Sequencing, Retrospective cohort study, Sequence Analysis, DNA, Mutation, Costs and Cost Analysis, Hereditary Cancer, business, Software
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf50c4548dc63cd042107956fe43cdb6Test
https://pubmed.ncbi.nlm.nih.gov/33219106Test -
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المؤلفون: Ana Vega, Orland Diez, Alejandro Moles-Fernández, Xavier de la Cruz, Gabriel Capellá, Luz-Marina Porras, Miguel de la Hoya, Sara Gutiérrez-Enríquez, Daniel Rueda, Conxi Lázaro, Anael López-Novo, Clara Ruiz-Ponte, Marta Pineda, Ana Blanco, Ignacio J. Molina, Lídia Feliubadaló, Ana Osorio, Marta Santamariña-Pena, Alysson T Sánchez
المصدر: Dipòsit Digital de la UB
Universidad de Barcelona
Digibug. Repositorio Institucional de la Universidad de Granada
instname
Digibug: Repositorio Institucional de la Universidad de Granada
Universidad de Granada (UGR)مصطلحات موضوعية: 0301 basic medicine, Male, medicine.medical_specialty, Computer science, Clinical Biochemistry, Genomics, Computational biology, Disease, Ataxia Telangiectasia Mutated Proteins, Spanish database, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Neoplasms, medicine, Malalties hereditàries, Humans, Genetic Predisposition to Disease, ACMG/AMP guidelines, Espanya, Curació de dades, Massive parallel sequencing, Data curation, Molecular pathology, Biochemistry (medical), Genetic Variation, High-Throughput Nucleotide Sequencing, Cancer patients, medicine.disease, Hereditary cancer, Data sharing, Malalts de càncer, 030104 developmental biology, Spain, 030220 oncology & carcinogenesis, Variant classification, Medical genetics, Female, Genetic diseases
وصف الملف: application/pdf
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::92c98f2fa6e9707918a8c22c3ad22c0aTest
https://pubmed.ncbi.nlm.nih.gov/33280026Test -
9Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patients
المؤلفون: Matilde Navarro, Raquel Cuesta, Jesús del Valle, Sara González, Eva Tornero, Joan Brunet, Alex Teulé, Paula Rofes, José Marcos Moreno-Cabrera, Silvia Iglesias, Angela Velasco, Rafael de Cid, Olga Campos, Gardenia Vargas-Parra, Esther Darder, Marta Pineda, Gabriel Capellá, Mireia Menéndez, Xavier Muñoz, Adriana Lopez-Doriga, Agostina Stradella, Mireia Gausachs, Conxi Lázaro, Daniel Azuara, Lídia Feliubadaló
المصدر: Human mutationREFERENCES. 41(12)
مصطلحات موضوعية: Oncology, Male, Societies, Scientific, medicine.medical_specialty, DNA Copy Number Variations, Colorectal cancer, Genomics, Biology, Cohort Studies, 03 medical and health sciences, Breast cancer, Internal medicine, Neoplasms, Genetics, medicine, Missense mutation, Humans, Family, RNA, Messenger, skin and connective tissue diseases, CHEK2, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Base Sequence, Molecular pathology, 030305 genetics & heredity, Genetic Variation, Molecular Sequence Annotation, medicine.disease, Pedigree, Checkpoint Kinase 2, Gene Expression Regulation, Cohort, Mutation, Medical genetics, Female, RNA Splice Sites
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e8c30338b9c92b80540b3b71d3ea473cTest
https://pubmed.ncbi.nlm.nih.gov/32906215Test -
10
المؤلفون: Paula, Rofes, Mireia, Menéndez, Sara, González, Eva, Tornero, Carolina, Gómez, Gardenia, Vargas-Parra, Eva, Montes, Mónica, Salinas, Ares, Solanes, Joan, Brunet, Alex, Teulé, Gabriel, Capellá, Lídia, Feliubadaló, Jesús, Del Valle, Marta, Pineda, Conxi, Lázaro
المصدر: The Journal of molecular diagnostics : JMD. 22(12)
مصطلحات موضوعية: Adult, Male, DNA Copy Number Variations, Genome, Human, Sequence Analysis, RNA, RNA Splicing, High-Throughput Nucleotide Sequencing, Exons, Genomics, Middle Aged, Polymorphism, Single Nucleotide, Introns, Cohort Studies, Young Adult, Neoplastic Syndromes, Hereditary, Practice Guidelines as Topic, Humans, Computer Simulation, Female, Genetic Predisposition to Disease, Genetic Testing, RNA, Messenger, Alleles, Aged
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid________::c36cff4d91094c99887494516b733188Test
https://pubmed.ncbi.nlm.nih.gov/33011440Test