-
1
المؤلفون: Lisa Devereux, Douglas F. Easton, Simone McInerny, Melissa C. Southey, R. K. Schmutzler, Orland Diez, Muriel A. Adank, Tu Nguyen-Dumont, Alfons Meindl, Alejandro Moles-Fernández, Marjanka K. Schmidt, Rodney J. Scott, Martine Dumont, Paul A. James, Christoph Engel, Fabienne Lesueur, Penny Soucy, Yu Kuan Huang, N Li, Elad Ziv, Elodie Girard, Eric Hahnen, Magnus Zethoven, Jamie Allen, Kylie L. Gorringe, Susan L. Neuhausen, Irene L. Andrulis, Dane Cheasley, Jacques Simard, John L. Hopper, Ian G. Campbell, Niko Thio, Sara Gutiérrez-Enríquez
المساهمون: Institut Català de la Salut, [Li N] Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, Melbourne, Vic, Australia. Sir Peter MacCallum Department of Oncology, University of Melbourne, Melbourne, Vic, Australia. Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, Vic, Australia. [Zethoven M] Cancer Genetics Laboratory, Peter MacCallum Cancer Centre, Melbourne, Vic, Australia. Bioinformatics Core Facility, Peter MacCallum Cancer Centre, Melbourne, Vic, Australia. [McInerny S] Parkville Familial Cancer Centre, Peter MacCallum Cancer Centre and Royal Melbourne Hospital, Melbourne, Vic, Australia. [Devereux L] Lifepool, Peter MacCallum Cancer Centre, Melbourne, Vic, Australia. [Huang YK] Upper Gastrointestinal Translational Research Laboratory, Peter MacCallum Cancer Centre, Melbourne, Vic, Australia. Department of Medicine, Royal Melbourne Hospital, The University of Melbourne, Melbourne, Vic, Australia. [Thio N] Bioinformatics Core Facility, Peter MacCallum Cancer Centre, Melbourne, Vic, Australia. [Gutiérrez-Enríquez S, Moles-Fernández A] Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. [Diez O] Hereditary Cancer Genetics Group, Vall d’Hebron Institute of Oncology (VHIO), Barcelona, Spain. Àrea de Genètica Clínica i Molecular, Hospital Universitari Vall d’Hebron, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, Li, Na [0000-0003-1578-9561], Devereux, Lisa [0000-0003-2435-5888], Huang, Yu-Kuan [0000-0003-2262-7069], Cheasley, Dane [0000-0002-1170-4690], Gutiérrez-Enríquez, Sara [0000-0002-1711-6101], Simard, Jacques [0000-0001-6906-3390], Schmidt, Marjanka K [0000-0002-2228-429X], Andrulis, Irene L [0000-0002-4226-6435], Engel, Christoph [0000-0002-7247-282X], Lesueur, Fabienne [0000-0001-7404-4549], Easton, Douglas F [0000-0003-2444-3247], Scott, Rodney J [0000-0001-7724-3404], Gorringe, Kylie L [0000-0001-5681-2022], James, Paul A [0000-0002-4361-4657], Campbell, Ian G [0000-0002-7773-4155], Apollo - University of Cambridge Repository, Allen, Jamie [0000-0002-8677-2225], Schmidt, Marjanka K. [0000-0002-2228-429X], Andrulis, Irene L. [0000-0002-4226-6435], Easton, Douglas F. [0000-0003-2444-3247], Scott, Rodney J. [0000-0001-7724-3404], Gorringe, Kylie L. [0000-0001-5681-2022], James, Paul A. [0000-0002-4361-4657], Campbell, Ian G. [0000-0002-7773-4155]
المصدر: Scientia
npj Breast Cancer, Vol 7, Iss 1, Pp 1-12 (2021)
npj Breast Cancerمصطلحات موضوعية: 0301 basic medicine, Oncology, Mama - Càncer - Prognosi, Neoplasms::Neoplasms by Site::Breast Neoplasms [DISEASES], Genetic Phenomena::Genotype::Genetic Predisposition to Disease [PHENOMENA AND PROCESSES], Diàtesi, 32 Biomedical and Clinical Sciences, medicine.disease_cause, 631/208/737, Germline, 0302 clinical medicine, Other subheadings::/diagnosis [Other subheadings], Missense mutation, 2.1 Biological and endogenous factors, Pharmacology (medical), 631/208/68, RC254-282, Cancer, 2 Aetiology, Mutation, neoplasias::neoplasias por localización::neoplasias de la mama [ENFERMEDADES], medicine.diagnostic_test, article, Neoplasms. Tumors. Oncology. Including cancer and carcinogens, 4203 Health Services and Systems, 3. Good health, 030220 oncology & carcinogenesis, Malalties congènites, Haploinsufficiency, medicine.medical_specialty, DNA repair, Otros calificadores::/diagnóstico [Otros calificadores], 631/67/69, 03 medical and health sciences, Breast cancer, Clinical Research, Internal medicine, Breast Cancer, medicine, Genetics, Radiology, Nuclear Medicine and imaging, Genetic Testing, Genetic testing, fenómenos genéticos::genotipo::predisposición genética a la enfermedad [FENÓMENOS Y PROCESOS], business.industry, Prevention, Human Genome, 42 Health Sciences, 631/67/1347, medicine.disease, 3211 Oncology and Carcinogenesis, 631/208/199, 030104 developmental biology, business
وصف الملف: application/pdf; text/xml
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54992fafa37b89d1887bd85898f2a787
https://hdl.handle.net/11351/6767 -
2
المؤلفون: Raymonda Varon-Manteeva, Bernhard H. F. Weber, Michael Braun, C Scholz, N Herold, Kerstin Rhiem, Britta Bluemcke, Verena Zarghooni, Christoph Engel, Judit Horvath, Dieter Niederacher, Dorothee Speiser, Ulrike Faust, Nicolai Maass, Silke Zachariae, Pauline Wimberger, Nils Rahner, Rita K. Schmutzler, Karin Kast, Nicola Dikow, Eric Hahnen, Barbara Wappenschmidt, Günter Emons, Clemens Mueller-Reible, Norbert Arnold, Marion Kiechle, Nadine Lichey, Guntram Borck, Sarah Schott, Sylvia Stark, Bernd Auber, Christine Fischer, Jan Hauke, Nikolaus de Gregorio, Andrea Gehrig, Tanja Fehm, Alfons Meindl, Nina Ditsch
المصدر: Journal of Medical Genetics. 53:465-471
مصطلحات موضوعية: Adult, Male, 0301 basic medicine, medicine.medical_specialty, Breast Neoplasms, Pedigree chart, Breast Neoplasms, Male, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Germline mutation, Prevalence, Genetics, medicine, Humans, Genetic Predisposition to Disease, Mutation detection, Genetic Testing, Germ-Line Mutation, Genetics (clinical), Genetic testing, BRCA2 Protein, Ovarian Neoplasms, Gynecology, medicine.diagnostic_test, BRCA1 Protein, business.industry, Cancer, Middle Aged, medicine.disease, 3. Good health, 030104 developmental biology, 030220 oncology & carcinogenesis, Mutation (genetic algorithm), Female, Ovarian cancer, business
-
3
المؤلفون: Olufunmilayo I. Olopade, Darcy L. Thull, Raanan Berger, Mary Beth Terry, Michel Longy, Timothy R. Rebbeck, Gord Glendon, Min Hyuk Lee, Javier Benitez, Mark T. Rogers, Mark H. Greene, Dezheng Huo, Adalgeir Arason, Carole Brewer, Siranoush Manoukian, Jackie Cook, Louise Izatt, Yuan Chun Ding, Dieter Niederacher, Nadine Tung, Sophie Giraud, Henriette Roed Nielsen, Antonis C. Antoniou, Bernhard H. F. Weber, Bruno Buecher, Goska Leslie, Amanda E. Toland, Anna Marie Mulligan, Ane Y. Schmidt, Noralane M. Lindor, Véronique Mari, Tara M. Friebel, Cecilia M. Dorfling, Ugnius Mickys, Lenka Foretova, Andrew K. Godwin, Bernd Dworniczak, Tsun Leung Chan, Monica Barile, Angela R. Solano, Susan J. Ramus, Laurence Faivre, Susan L. Neuhausen, Ana Peixoto, Julio Abugattas, Mattias Van Heetvelde, Jacqueline Eason, Muhammad Usman Rashid, Barbara Pasini, Henrique de Campos Reis Galvão, Heli Nevanlinna, Lucy Side, Nina Peruga, Marco Montagna, Amie Blanco, Alison H. Trainer, Cristina Zanzottera, Arjen R. Mensenkamp, Douglas F. Easton, Inge Søkilde Pedersen, Kenneth Offit, Judy Garber, Sook-Yee Yoon, Uffe Birk Jensen, Irene Konstantopoulou, Barbara Wappenschmidt, Stefanie Engert, Robert L. Nussbaum, Kai-ren Ong, Ros Eeles, Marinus J. Blok, Yael Laitman, Alex Teulé, Marion Gauthier-Villars, Daniel Barrowdale, Mads Thomassen, Torben A Kruse, Hanne Meijers-Heijboer, Abigail Thomas, Susan M. Domchek, Jacques Simard, Jamal Zidan, Paul A. James, Rob B. van der Luijt, Nina Ditsch, Annette Lee, Joseph Vijai, Kathleen R. Blazer, Elizabeth J. van Rensburg, János Papp, Lizet E. van der Kolk, Eitan Friedman, Pascal Pujol, Johanna Rantala, Patricia A. Ganz, Esther M. John, Conxi Lázaro, Jacek Gronwald, Paul Gesta, Jan Hauke, Simona Agata, Leo Auerbach, Paolo Radice, Fabienne Prieur, Beth Y. Karlan, Antoine De Pauw, Paolo Peterlongo, Sandrine M. Caputo, Sue K. Park, Marc Tischkowitz, Jocelyne Chiquette, Karin Kast, Annemieke H. van der Hout, Eric Hahnen, Grzegorz Sukiennicki, Debra Frost, Noura Mebirouk, Angel Izquierdo, Alex Henderson, Carolina Velázquez, Raymonda Varon-Mateeva, J. Margriet Collée, Soo-Hwang Teo, Esther Pohl, Rosa B. Barkardottir, Rita K. Schmutzler, Kim De Leeneer, Andrea Gehrig, D. Gareth Evans, Jeffrey N. Weitzel, Katherine L. Nathanson, Lesley McGuffog, Christoph Engel, Amanda B. Spurdle, Austin Miller, Edith Olah, Hans Ehrencrona, Almuth Caliebe, Zoltan Matrai, Ian G. Campbell, Christina G. Selkirk, Kirsten B. Moysich, Ella Asseryanis, Wendy K. Chung, Michael T. Parsons, Shan Wang-Gohrke, Thomas P. Slavin, Karen H. Lu, Gustavo C. Rodriguez, Julian Adlard, Christian F. Singer, Lesley Andrews, Jacopo Azzollini, Peter J. Hulick, Judith Balmaña, Anne-Marie Gerdes, Frans B. L. Hogervorst, Capucine Delnatte, Miguel de la Hoya, Katarzyna Kaczmarek, Angelica M. Gutierrez-Barrera, Claudine Isaacs, Lisa Walker, Doris Steinemann, Huu Phuc Nguyen, Anna von Wachenfeldt, Saundra S. Buys, Fabienne Lesueur, Kristin K. Zorn, Kerstin Rhiem, Manuel R. Teixeira, Linda Steele, Ava Kwong, Alfons Meindl, Evgeny N. Imyanitov, Giuseppe Giannini, Banu Arun, Vilius Rudaitis, Norbert Arnold, Ellen Honisch, Melissa C. Southey, Ramunas Janavicius, Finn Cilius Nielsen, Jacob Korach, Ana Vega, Nisha Pradhan, David E. Goldgar, Anna Jakubowska, Angela R. Bradbury, Cora M. Aalfs, kConFab Investigators, Lídia Feliubadaló, Annelie Liljegren, Ana Osorio, Sabine Topka, Julia Hentschel, Katie Snape, Fergus J. Couch, Ute Hamann, Anna Öfverholm, Edenir Inêz Palmero, Jacob Musinsky, Adriana Lasa, Silvia Tognazzo, Payal D. Shah, Drakoulis Yannoukakos, Valérie Bonadona, Laura Papi, Georgia Chenevix-Trench, Christi J. van Asperen, Hagay Sobol, Kristiina Aittomäki, Cristina Martínez-Bouzas, Jan Lubinski, Csilla Szabo, Joanne Ngeow, Hebon, Maria A. Caligo, Priyanka Sharma, Anne-Bine Skytte, Christian Sutter, Yen Y. Tan, Trinidad Caldés, Rosemarie Davidson, Jenny Lester, Andreas Berger, Mark E. Robson, Jennifer T. Loud, Cynthia Villarreal-Garza, Eva Machackova, Leigha Senter, Irene L. Andrulis, Sandra Fert Ferrer, Diana Torres, Sung-Won Kim, Karolina Prajzendanc, Christine Lasset, Embrace, Jeffrey M. Fowler, Bernardo Bonanni, Bent Ejlertsen, Liliana Varesco, Orland Diez, Kathleen Claes
المساهمون: Leslie, Goska [0000-0001-5756-6222], Easton, Douglas [0000-0003-2444-3247], Lee, Andrew [0000-0003-0677-0252], Tischkowitz, Marc [0000-0002-7880-0628], Antoniou, Antonis [0000-0001-9223-3116], Apollo - University of Cambridge Repository, Centre Léon Bérard [Lyon], Institut Curie [Paris], CRLCC René Gauducheau, Centre Régional de Lutte contre le cancer Georges-François Leclerc [Dijon] (UNICANCER/CRLCC-CGFL), UNICANCER, Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre Hospitalier Métropole Savoie [Chambéry], Centre Hospitalier Georges Renon [Niort] (CH Georges Renon Niort), Cancer et génome: Bioinformatique, biostatistiques et épidémiologie d'un système complexe, Institut Curie [Paris]-MINES ParisTech - École nationale supérieure des mines de Paris, Université Paris sciences et lettres (PSL)-Université Paris sciences et lettres (PSL)-Institut National de la Santé et de la Recherche Médicale (INSERM), Plateforme de génétique moléculaire des cancers d'Aquitaine, Institut Bergonié [Bordeaux], UNICANCER-UNICANCER, Centre de Lutte contre le Cancer Antoine Lacassagne [Nice] (UNICANCER/CAL), UNICANCER-Université Côte d'Azur (UCA), CHU Saint-Etienne, Centre Hospitalier Régional Universitaire [Montpellier] (CHRU Montpellier), Université de Montpellier (UM), Institut Paoli-Calmettes, Fédération nationale des Centres de lutte contre le Cancer (FNCLCC), RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), Clinical Genetics, Human genetics, CCA - Cancer biology and immunology, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D), Fundações de Amparo à Pesquisa (Brasil), Research Foundation - Flanders, University of Helsinki, Sigrid Juselius Foundation, Dutch Cancer Society, Netherlands Organization for Scientific Research, Asociación Española Contra el Cáncer, Generalitat de Catalunya, Ministero della Salute, Istituto Oncologico Veneto, University of Tasmania, Australian Cancer Research Foundation, Ministry of Health and Welfare (South Korea), Charles University (Czech Republic), National Research Foundation Singapore, Russian Foundation for Basic Research, Istituto Toscano Tumori, Israel Cancer Association USA, Swedish Cancer Society, Foundation for Women's Cancer, University of Pittsburgh, Cancer Australia, American Cancer Society, The Ohio State University, National Institutes of Health (US), Cancer Research UK, European Commission, Canadian Institutes of Health Research, Department of Trade and Industry (UK), Susan G. Komen Foundation, Breast Cancer Research Foundation, Genome Canada, National Cancer Institute (US), Research Council of Lithuania, Cancer Association of South Africa, Consejo Nacional de Investigaciones Científicas y Técnicas (Argentina), Instituto de Salud Carlos III, Ministerio de Economía y Competitividad (España), Ministerio de Sanidad y Política Social (España), Associazione Italiana per la Ricerca sul Cancro, Fondazione Italiana per la Ricerca sul Cancro, Ministero dell'Istruzione, dell'Università e della Ricerca, Institut Pasteur, Fondazione Cenci Bolognetti, Greek Government, Pontificia Universidad Javeriana, Royal Marsden NHS Foundation Trust, Kansas State University, Fundación Mutua Madrileña, Ligue Nationale contre le Cancer (France), Georgetown University, Human Genetics, Other departments, ARD - Amsterdam Reproduction and Development
المصدر: Human Mutation
Human Mutation, Wiley, 2018, 39 (5), pp.593-620. ⟨10.1002/humu.23406⟩
Dipòsit Digital de la UB
Universidad de Barcelona
Rebbeck, T R, Friebel, T M, Friedman, E, Hamann, U, Huo, D, Kwong, A, Olah, E, Olopade, O I, Solano, A R, Teo, S-H, Thomassen, M, Weitzel, J N, Chan, T L, Couch, F J, Goldgar, D E, Kruse, T A, Palmero, E I, Park, S K, Torres, D, van Rensburg, E J, McGuffog, L, Parsons, M T, Leslie, G, Aalfs, C M, Abugattas, J, Adlard, J, Agata, S, Aittomäki, K, Andrews, L, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Asseryanis, E, Auerbach, L, Azzollini, J, Balmaña, J, Barile, M, Barkardottir, R B, Barrowdale, D, Benitez, J, Berger, A, Berger, R, Blanco, A M, Blazer, K R, Blok, M J, Bonadona, V, Bonanni, B, Bradbury, A R, Brewer, C, Buecher, B, Buys, S S, Caldes, T, Caliebe, A, Caligo, M A, Campbell, I, Caputo, S M, Chiquette, J, Chung, W K, Claes, K B M, Collée, J M, Cook, J, Davidson, R, de la Hoya, M, De Leeneer, K, de Pauw, A, Delnatte, C, Diez, O, Ding, Y C, Ditsch, N, Domchek, S M, Dorfling, C M, Velazquez, C, Dworniczak, B, Eason, J, Easton, D F, Eeles, R, Ehrencrona, H, Ejlertsen, B, EMBRACE, Engel, C, Engert, S, Evans, D G, Faivre, L, Feliubadaló, L, Ferrer, S F, Foretova, L, Fowler, J, Frost, D, Galvão, H C R, Ganz, P A, Garber, J, Gauthier-Villars, M, Gehrig, A, GEMO Study Collaborators, Gerdes, A-M, Gesta, P, Giannini, G, Giraud, S, Glendon, G, Godwin, A K, Greene, M H, Gronwald, J, Gutierrez-Barrera, A, Hahnen, E, Hauke, J, HEBON, Henderson, A, Hentschel, J, Hogervorst, F B L, Honisch, E, Imyanitov, E N, Isaacs, C, Izatt, L, Izquierdo, A, Jakubowska, A, James, P, Janavicius, R, Jensen, U B, John, E M, Vijai, J, Kaczmarek, K, Karlan, B Y, Kast, K, KConFab Investigators, Kim, S-W, Konstantopoulou, I, Korach, J, Laitman, Y, Lasa, A, Lasset, C, Lázaro, C, Lee, A, Lee, M H, Lester, J, Lesueur, F, Liljegren, A, Lindor, N M, Longy, M, Loud, J T, Lu, K H, Lubinski, J, Machackova, E, Manoukian, S, Mari, V, Martínez-Bouzas, C, Matrai, Z, Mebirouk, N, Meijers-Heijboer, H E J, Meindl, A, Mensenkamp, A, Mickys, U, Miller, A, Montagna, M, Moysich, K B, Mulligan, A M, Musinsky, J, Neuhausen, S L, Nevanlinna, H, Ngeow, J, Nguyen, H P, Niederacher, D, Nielsen, H R, Nielsen, F C, Nussbaum, R L, Offit, K, Öfverholm, A, Ong, K-R, Osorio, A, Papi, L, Papp, J, Pasini, B, Pedersen, I S, Peixoto, A, Peruga, N, Peterlongo, P, Pohl, E, Pradhan, N, Prajzendanc, K, Prieur, F, Pujol, P, Radice, P, Ramus, S J, Rantala, J, Rashid, M U, Rhiem, K, Robson, M, Rodriguez, G C, Rogers, M T, Rudaitis, V, Schmidt, A Y, Schmutzler, R K, Senter, L, Shah, P D, Sharma, P, Side, L E, Simard, J, Singer, C F, Skytte, A-B, Slavin, T P, Snape, K, Sobol, H, Southey, M C, Steele, L, Steinemann, D, Sukiennicki, G, Sutter, C, Szabo, C I, Tan, Y Y, Teixeira, M R, Terry, M B, Teulé, A, Thomas, A, Thull, D L, Tischkowitz, M, Tognazzo, S, Toland, A E, Topka, S, Trainer, A H, Tung, N, van Asperen, C J, van der Hout, A H, van der Kolk, L E, van der Luijt, R B, Van Heetvelde, M, Varesco, L, Varon-Mateeva, R, Vega, A, Villarreal-Garza, C, von Wachenfeldt, A, Walker, L, Wang-Gohrke, S, Wappenschmidt, B, Weber, B H F, Yannoukakos, D, Yoon, S-Y, Zanzottera, C, Zidan, J, Zorn, K K, Selkirk, C G H, Hulick, P J, Chenevix-Trench, G, Spurdle, A B, Antoniou, A C & Nathanson, K L 2018, ' Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations ', Human Mutation, vol. 39, no. 5, pp. 593-620 . https://doi.org/10.1002/humu.23406
Jensen, U B 2018, ' Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. ' . https://doi.org/10.1002/humu.23406
Human Mutation, 39, 5, pp. 593-620
Human Mutation, 39(5), 593-620. Wiley
Human Mutation: Variation, Informatics and Disease, 39(5), 593-620
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Rebbeck, T R, Friebel, T M, Friedman, E, Hamann, U, Huo, D, Kwong, A, Olah, E, Olopade, O I, Solano, A R, Teo, S-H, Thomassen, M, Weitzel, J N, Chan, T L, Couch, F J, Goldgar, D E, Kruse, T A, Palmero, E I, Park, S K, Torres, D, van Rensburg, E J, McGuffog, L, Parsons, M T, Leslie, G, Aalfs, C M, Abugattas, J, Adlard, J, Agata, S, Aittomäki, K, Andrews, L, Andrulis, I L, Arason, A, Arnold, N, Arun, B K, Asseryanis, E, Auerbach, L, Azzollini, J, Balmaña, J, Barile, M, Barkardottir, R B, Barrowdale, D, Benitez, J, Berger, A, Berger, R, Blanco, A M, Blazer, K R, Blok, M J, Bonadona, V, Gerdes, A-M, Nielsen, H R, Skytte, A-B & EMBRACE 2018, ' Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations ', Human Mutation, vol. 39, no. 5, pp. 593-620 . https://doi.org/10.1002/humu.23406
HUMAN MUTATION
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
instname
Human Mutation, 39, 593-620
Human Mutation, 39(5), 593-620. Wiley-Liss Inc.
Digital.CSIC. Repositorio Institucional del CSIC
EMBRACE, GEMO Study Collaborators, HEBON & KConFab Investigators 2018, ' Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations ', Human Mutation, vol. 39, no. 5, pp. 593-620 . https://doi.org/10.1002/humu.23406
EMBRACE 2018, ' Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations ', Human Mutation, vol. 39, no. 5, pp. 593-620 . https://doi.org/10.1002/humu.23406
Human mutation, 39(5), 593-620. Wiley-Liss Inc.
The CIMBA Consortium & Evans, D G 2018, ' Mutational Spectrum in a Worldwide Study of 29,700 Families with BRCA1 or BRCA2 Mutations ', Human Mutation . https://doi.org/10.1002/humu.23406
Rebbeck, TR; Friebel, TM; Friedman, E; Hamann, U; Huo, D; Kwong, A; et al.(2018). Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations. HUMAN MUTATION, 39(5), 593-620. doi: 10.1002/humu.23406. UCLA: Retrieved from: http://www.escholarship.org/uc/item/3q49q09hمصطلحات موضوعية: 0301 basic medicine, HEREDITARY BREAST, Mutation rate, Internationality, endocrine system diseases, Càncer d'ovari, Gene mutation, medicine.disease_cause, geography, Race (biology), 0302 clinical medicine, Breast cancer, FOUNDER MUTATIONS, Databases, Genetic, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], skin and connective tissue diseases, Genetics (clinical), Genetics, Mutation, medicine.diagnostic_test, Geography, RISK HISPANIC FAMILIES, BRCA1 Protein, 185DELAG MUTATION, GERMLINE MUTATIONS, 3. Good health, PROSTATE-CANCER, ovarian cancer, 030220 oncology & carcinogenesis, Medical genetics, ethnicity, BREAST-CANCER PATIENTS, BRCA1, BRCA2, breast cancer, mutation, medicine.medical_specialty, Biology, OVARIAN-CANCER, Article, Càncer de mama, BRCA2 Protein, Family, Humans, 03 medical and health sciences, Databases, Germline mutation, Genetic, Ovarian cancer, medicine, ddc:610, Genotyping, Genetic testing, PHENOTYPE ANALYSIS, BRCA1, BRCA2, Breast Cancer, HAPLOTYPE ANALYSIS, Mutació (Biologia), Mutation (Biology), 030104 developmental biology, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
وصف الملف: application/pdf
-
4
المؤلفون: Olaf Riess, Rita K. Schmutzler, Brigitte Schlegelberger, Christoph Engel, Jan Hauke, Andrea Gehrig, Jutta Engel, Silke Zachariae, Elena Leinert, Dieter Niederacher, Alfons Meindl, Sibylle Loibl, Peter Wieacker, Bernhard H. F. Weber, Dorothee Speiser, Karin Kast, Kerstin Rhiem, Anke Waha, Norbert Arnold, Susanne Briest, Claus R. Bartram, Barbara Wappenschmidt, Eric Hahnen, Günter Emons, Karsten Weber, Sabine Seiler, Britta Blümcke, Marion Kiechle
المساهمون: German Consortium for Hereditary Breast and Ovarian Cancer (GC-HBOC)
المصدر: BMC Cancer, Vol 18, Iss 1, Pp 1-6 (2018)
BMC Cancerمصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, Family Cancer History, Triple Negative Breast Neoplasms, 0302 clinical medicine, 610 Medical sciences Medicine, Germany, Prevalence, Family history, Mutation frequency, Triple-negative breast cancer, BRCA1 Protein, Middle Aged, Prognosis, lcsh:Neoplasms. Tumors. Oncology. Including cancer and carcinogens, 3. Good health, 030220 oncology & carcinogenesis, Female, Research Article, Adult, medicine.medical_specialty, Hereditary breast and ovarian cancer, lcsh:RC254-282, Young Adult, 03 medical and health sciences, Breast cancer, Germline mutation, Internal medicine, Biomarkers, Tumor, Unilateral Breast Neoplasms, Genetics, medicine, Humans, Genetic Testing, ddc:610, Germ-Line Mutation, Aged, BRCA2 Protein, business.industry, Odds ratio, medicine.disease, BRCA1, BRCA2, 030104 developmental biology, Ovarian cancer, business, Follow-Up Studies
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::27f18a341b075c7f9581a5565196e7ba
https://nbn-resolving.org/urn:nbn:de:bvb:20-opus-226763 -
5
المؤلفون: Dieter Niederacher, Mateja Smogavec, Konstantin Weber-Lassalle, Ellen Honisch, Judit Horvath, Victoria G. Paul, Christian Ruckert, Thomas Haaf, Norbert Arnold, N Herold, Katharina Keupp, Bernhard H. F. Weber, Julika Borde, Beatrix Versmold, Janine Altmüller, Alfons Meindl, Andreas Rump, Sabine Grill, Verena Hübbel, Christoph Engel, Shan Wang-Gohrke, Juliane Ramser, Holger Thiele, Christian Kubisch, Bernd Dworniczak, Alexander E Volk, Nana Weber-Lassalle, Jan Hauke, Kerstin Rhiem, Corinna Ernst, Gunnar Schmidt, Nadine Lichey, Peter Nürnberg, Christian Sutter, Barbara Wappenschmidt, Julia Hentschel, Nina Ditsch, Rita K. Schmutzler, Andrea Gehrig, Bernd Auber, Karl Hackmann, Eva Groß, Esther Pohl, Eric Hahnen, Ulrike Faust
المصدر: Cancer Medicine
مصطلحات موضوعية: 0301 basic medicine, Oncology, Cancer Research, Genes, BRCA2, Genes, BRCA1, Estrogen receptor, 0302 clinical medicine, Odds Ratio, Prevalence, Missense mutation, 10. No inequality, skin and connective tissue diseases, Exome, Original Research, Cancer Biology, Aged, 80 and over, medicine.diagnostic_test, hereditary breast cancer, Middle Aged, 3. Good health, 030220 oncology & carcinogenesis, Hereditary Breast and Ovarian Cancer Syndrome, Female, Adult, medicine.medical_specialty, PALB2, 03 medical and health sciences, Young Adult, Breast cancer, Internal medicine, medicine, Biomarkers, Tumor, Humans, Radiology, Nuclear Medicine and imaging, Genetic Predisposition to Disease, Genetic Testing, ddc:610, CHEK2, Genetic Association Studies, Genetic testing, Aged, business.industry, Genetic Variation, medicine.disease, 030104 developmental biology, Breast cancer predisposition, Case-Control Studies, business, Ovarian cancer
وصف الملف: application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d84f65d6830970778a48b280c3c3aae2
https://opus.bibliothek.uni-augsburg.de/opus4/frontdoor/index/index/docId/83861 -
6
المؤلفون: Michael Jones, Dong-Young Noh, Martha J. Shrubsole, Chen-Yang Shen, Xiaoqing Chen, Esther M. John, Patricia Harrington, Quinten Waisfisz, Sue K. Park, Miriam Dwek, Christa Stegmaier, Sibylle Loibl, Wing-Yee Lo, Suleeporn Sangrajrang, Susan L. Neuhausen, Marina Bermisheva, Alicja Wolk, Christof Sohn, Keun-Young Yoo, Arja Jukkola-Vuorinen, Kathrin Thöne, James McKay, John J. Spinelli, Brian D. Carter, Elza Khusnutdinova, Francois Bacot, Paul L. Auer, Anna H. Wu, Christopher I. Amos, Johanna I. Kiiski, Hans Wildiers, Manjeet K. Bolla, Soo Hwang Teo, Julie M. Cunningham, Zhaoming Wang, Dieter Flesch-Janys, Argyrios Ziogas, Ann Smeets, Min Hyuk Lee, Xiaohong R. Yang, Carl Blomqvist, Natalia Antonenkova, Vassilios Georgoulias, Siranoush Manoukian, Anne Lise Børresen-Dale, Montserrat Garcia-Closas, Priyanka Sharma, Michael J. Kerin, Loic Le Marchand, Yoshio Kasuga, Michael Untch, Thomas Brüning, Natalia Bogdanova, Juliet D. French, Mark E. Sherman, Diana Eccles, Don M. Conroy, Marcia Adams, Pascal Guénel, Jonine D. Figueroa, Somchai Thanasitthichai, Jonathan Beesley, Paolo Peterlongo, Angela Cox, Graham G. Giles, Hans Christiansen, Irene L. Andrulis, Caroline Baynes, V. Shane Pankratz, Kristine Jones, Wei Zheng, Motoki Iwasaki, Rita K. Schmutzler, Julian Peto, Sara Margolin, Hedy S. Rennert, Hidemi Ito, Caroline Seynaeve, Jirong Long, Rachel Lloyd, Mark S. Goldberg, Javier Benitez, Børge G. Nordestgaard, Kathleen E. Malone, A. Heather Eliassen, Valerie Rhenius, Kristan J. Aronson, Maartje J. Hooning, Ursula Eilber, Christopher A. Haiman, Ji Yeob Choi, Jaana M. Hartikainen, Ian W. Brock, Barbara Burwinkel, Brigitte Rack, Mitul Shah, Matthias W. Beckmann, Belynda Hicks, Bernardo Bonanni, Alexander Hein, Leslie Bernstein, Christine L. Clarke, Emilie Cordina-Duverger, Sabine Behrens, Hoda Anton-Culver, Angela Brooks-Wilson, Bin Zhu, Gord Glendon, Banu Arun, José A. García-Sáenz, Jose Ignacio Arias Perez, Anne Grundy, Ans M.W. van den Ouweland, Nadege Presneau, Volker Arndt, Mikael Eriksson, Simon S. Cross, Craig Luccarini, Anthony J. Swerdlow, Veli-Matti Kosma, Hui Miao, Ming-Feng Hou, Hiroji Iwata, Christi J. van Asperen, Henrik Flyger, Jennifer Stone, Qin Wang, Penny Soucy, Heli Nevanlinna, Jane Heyworth, Shoichiro Tsugane, Annika Lindblom, Curtis Olswold, Trinidad Caldés, Laura Fachal, Ed Dicks, Shirley Hui, Katja Butterbach, Alison M. Dunning, Peter Devilee, Qiuyin Cai, Antonis C. Antoniou, Diether Lambrechts, Katarzyna Kaczmarek, Katri Pylkäs, Fredrick R. Schumacher, Arif B. Ekici, Aaron D. Norman, Jolanta Lissowska, Daniel C. Tessier, N Hamel, Paolo Radice, Håkan Olsson, Vessela N. Kristensen, Ling Tong, Harald Surowy, Rulla M. Tamimi, Jonathan Tyrer, Michael P. Lux, Stacey L. Edwards, Kathryn J. Ruddy, Giske Ursin, Myrto Barrdahl, Xiao-Ou Shu, Primitiva Menéndez, Sara Y. Brucker, Elad Ziv, Kenneth Muir, Eric Hahnen, Andy C. H. Lee, Rodney J. Scott, Lothar Haeberle, Darya Prokofyeva, Isabel dos-Santos-Silva, Peter Kraft, David G. Cox, Jong Won Lee, Sunil R. Lakhani, Kelly-Anne Phillips, Douglas F. Easton, Melissa C. Southey, Jan Lubinski, Jose E. Castelao, Hanne Meijers-Heijboer, Ivana Maleva Kostovska, Siddhartha Kar, Renske Keeman, Celine M. Vachon, Diana Torres, Stephen J. Chanock, Jack A. Taylor, Emiel J. Th. Rutgers, Chuen Neng Lee, Jason Vollenweider, Gadi Rennert, Jane Romm, Amy E. McCart Reed, Kee Seng Chia, Thomas Rüdiger, Anja Rudolph, Catriona McLean, David Van Den Berg, Christopher G. Scott, Mervi Grip, Lucy Xia, Georgia Chenevix-Trench, Robert Winqvist, Mary Beth Terry, Jenny Chang-Claude, Hans-Ulrich Ulmer, Mikael Hartman, Dona N. Ho, Maria Kabisch, Christoph Engel, Claire Mulot, Grethe I. Grenaker Alnæs, Arto Mannermaa, Nazneen Rahman, Tjoung-Won Park-Simon, Atocha Romero, Lin Fritschi, Manuela Gago-Dominguez, Matthias Ruebner, Valerie Gaborieau, Keitaro Matsuo, Asha Rostamianfar, Emmanouil Saloustros, Dijana Plaseska-Karanfilska, J.-P. Meyer, Sara Lindström, Annegien Broeks, Audrey Lemaçon, Tsun Leung Chan, Tongguang Cheng, Robert J. MacInnis, Habibul Ahsan, Federico Canzian, Paul Brennan, Mia M. Gaudet, David E. Goldgar, Anna Jakubowska, Paul D.P. Pharoah, Jacek Gronwald, Sung-Won Kim, Daehee Kang, Daniel O. Stram, Nichola Johnson, Rob B. van der Luijt, Sten Cornelissen, Camilla Wendt, Dylan M. Glubb, Olufunmilayo I. Olopade, Usha Menon, David J. Hunter, Kristiina Aittomäki, Jamie Allen, Chiu-Chen Tseng, Keith Humphreys, Edmond S. K. Ma, Peter Hillemanns, Hiltrud Brauch, Chia-Ni Hsiung, Sheila Seal, Junko Ishiguro, Dale P. Sandler, Peter Schürmann, Gary D. Bader, Sarah Stewart-Brown, Flavio Lejbkowicz, Marike Gabrielson, Wolfgang Janni, Judith S. Brand, Jingmei Li, Ava Kwong, Stig E. Bojesen, Ying Zheng, Mila Pinchev, Yu Tang Gao, Susan E. Hankinson, Elinor J. Sawyer, Per Broberg, Sofia Khan, Grace Sheng, Alfons Meindl, Margriet Collée, Jyh-Cherng Yu, Ute Krüger, Louise A. Brinton, Elizabeth W. Pugh, Thilo Dörk, Hilary K. Finucane, Peter A. Fasching, Shan Wang-Gohrke, Jenna Lilyquist, Muriel A. Adank, Marjanka K. Schmidt, Susan M. Gapstur, Sune F. Nielsen, Maya Ghoussaini, Minouk J. Schoemaker, Roger L. Milne, Jacques Simard, Clarice R. Weinberg, Kyriaki Michailidou, Shivaani Mariapun, Rob A. E. M. Tollenaar, Lizet E. van der Kolk, Nicola Miller, Anna González-Neira, Ian Tomlinson, Thérèse Truong, Ross L. Prentice, Anna Marie Mulligan, Jason S. Carroll, Taiki Yamaji, Carolina Ellberg, Mingajeva Elvira, Olivia Fletcher, Arnaud Droit, Per Hall, Maria Elena Martinez, Maria Tengström, Hui Cai, Xia Jiang, Janet E. Olson, Julia A. Knight, Nick Orr, Angel Carracedo, Guanmengqian Huang, Martine Dumont, Cheng Har Yip, Tom Maishman, Mary B. Daly, Artitaya Lophatananon, Niclas Håkansson, Steven N. Hart, Nur Aishah Taib, Andreas Schneeweiss, Daniel F. Schmidt, Daniel Vincent, Antoinette Hollestelle, Dimitrios Mavroudis, JoAnn E. Manson, Joe Dennis, Walter C. Willett, Rudolf Kaaks, Karen McCue, Enes Makalic, Kimberly F. Doheny, Eunjung Lee, Robert N. Hoover, Fergus J. Couch, Ute Hamann, Alice S. Whittemore, Hermann Brenner, Lorraine Durcan, Kamila Czene, Patrick Neven, John L. Hopper
المساهمون: Clinical Genetics, Medical Oncology, Human Genetics, CCA - Cancer biology and immunology, Dennis, Joe [0000-0003-4591-1214], Wang, Jean [0000-0002-9139-0627], Tyrer, Jonathan [0000-0003-3724-4757], Dicks, Ed [0000-0002-0617-0401], Lee, Andrew [0000-0003-0677-0252], Allen, Jamie [0000-0002-8677-2225], Fachal Vilar, Laura [0000-0002-7256-9752], Carroll, Jason [0000-0003-3643-0080], Rhenius, Valerie [0000-0003-4215-3235], Antoniou, Antonis [0000-0001-9223-3116], Pharoah, Paul [0000-0001-8494-732X], Dunning, Alison [0000-0001-6651-7166], Easton, Douglas [0000-0003-2444-3247], Apollo - University of Cambridge Repository, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development (AR&D)
المصدر: Nature, 551(7678), 92-+. Nature Publishing Group
Nature, 551(7678), 92-94. Nature Publishing Group
Nature, 551(7678), 92
Repositorio Institucional de la Consejería de Sanidad de la Comunidad de Madrid
Consejería de Sanidad de la Comunidad de Madrid
Michailidou, K, Lindström, S, Dennis, J, Beesley, J, Hui, S, Kar, S, Lemaçon, A, Soucy, P, Glubb, D, Rostamianfar, A, Bolla, M K, Wang, Q, Tyrer, J, Dicks, E, Lee, A, Wang, Z, Allen, J, Keeman, R, Eilber, U, French, J D, Chen, X Q, Fachal, L, McCue, K, Reed, A E M C, Ghoussaini, M, Carroll, J S, Jiang, X, Finucane, H, Adams, M, Adank, M A, Ahsan, H, Aittomäki, K, Anton-Culver, H, Antonenkova, N N, Arndt, V, Aronson, K J, Arun, B, Auer, P L, Bacot, F, Barrdahl, M, Baynes, C, Beckmann, M W, Behrens, S, Benitez, J, Bermisheva, M, Bernstein, L, Blomqvist, C, Hooning, M J, Meijers-Heijboer, H, Waisfisz, Q, NBCS Collaborators, ABCTB Investigators & kConFab/AOCS Investigators 2017, ' Association analysis identifies 65 new breast cancer risk loci ', Nature, vol. 551, no. 7678, pp. 92-94 . https://doi.org/10.1038/nature24284
Nature
Michailidou, K, Lindström, S, Dennis, J, Beesley, J, Hui, S, Kar, S, Lemaçon, A, Soucy, P, Glubb, D, Rostamianfar, A, Bolla, M K, Wang, Q, Tyrer, J, Dicks, E, Lee, A, Wang, Z, Allen, J, Keeman, R, Eilber, U, French, J D, Qing Chen, X, Fachal, L, McCue, K, McCart Reed, A E, Ghoussaini, M, Carroll, J S, Jiang, X, Finucane, H, Adams, M, Adank, M A, Ahsan, H, Aittomäki, K, Anton-Culver, H, Antonenkova, N N, Arndt, V, Aronson, K J, Arun, B, Auer, P L, Bacot, F, Barrdahl, M, Baynes, C, Beckmann, M W, Behrens, S, Benitez, J, Bermisheva, M, Bernstein, L, Blomqvist, C, Bogdanova, N V, Bojesen, S E & Figueroa, J & Tomlinson, I 2017, ' Association analysis identifies 65 new breast cancer risk loci ', Nature, vol. 551, no. 7678, pp. 92–94 . https://doi.org/10.1038/nature24284
Nature, 551(7678), 92. Nature Publishing Group
Michailidou, K, Lindström, S, Dennis, J, Beesley, J, Hui, S, Kar, S, Lemaçon, A, Soucy, P, Glubb, D, Rostamianfar, A, Bolla, M K, Wang, Q, Tyrer, J, Dicks, E, Lee, A, Wang, Z, Allen, J, Keeman, R, Eilber, U, French, J D, Qing Chen, X, Fachal, L, McCue, K, McCart Reed, A E, Ghoussaini, M, Carroll, J S, Jiang, X, Finucane, H, Adams, M, Adank, M A, Ahsan, H, Aittomäki, K, Anton-Culver, H, Antonenkova, N N, Arndt, V, Aronson, K J, Arun, B, Auer, P L, Bacot, F, Barrdahl, M, Baynes, C, Beckmann, M W, Behrens, S, Benitez, J, Bermisheva, M, Bernstein, L, Blomqvist, C, Lophatananon, A, Muir, K, Scott, C & NBCS Collaborators 2017, ' Association analysis identifies 65 new breast cancer risk loci ', Nature, vol. 551, no. 7678, pp. 92-94 . https://doi.org/10.1038/nature24284مصطلحات موضوعية: 0301 basic medicine, Multifactorial Inheritance, Genome-wide association study, Regulatory Sequences, Nucleic Acid, skin and connective tissue diseases, Cancer genetics, Genetics, Multidisciplinary, medicine.diagnostic_test, 3. Good health, Europe, annotation, Medical genetics, Female, Asian Continental Ancestry Group, medicine.medical_specialty, Asia, architecture, European Continental Ancestry Group, ABCTB Investigators, Locus (genetics), Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, Risk Assessment, Article, White People, NBCS Collaborators, 03 medical and health sciences, Breast cancer, Asian People, SDG 3 - Good Health and Well-being, Genetic variation, ConFab/AOCS Investigators, expression, medicine, Genetic predisposition, Journal Article, Humans, Computer Simulation, Genetic Predisposition to Disease, biological pathways, Genetic association, Genetic testing, Genetic association study, Binding Sites, interaction networks, medicine.disease, comprehensive molecular portraits, mutations, susceptibility loci, 030104 developmental biology, Genetic Loci, genome-wide association, protein, Transcription Factors, Genome-Wide Association Study
وصف الملف: application/pdf; image/pdf; Print-Electronic
إعادة تعيين المنقحات
عرض المنقحات (%%عد%%)
Find this article in full text from Springer Verlag.