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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a3614a7b96cee0216810ef4787eb66d2
https://doi.org/10.1136/jmedgenet-2015-103672

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/3q49q09h

مصطلحات 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

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ab526fd54e17412cf2be87645b672d04
https://www.repository.cam.ac.uk/handle/1810/274227

المؤلفون: Christopher A. Haiman, Pascal Guénel, Hidemi Ito, Susan L. Neuhausen, Christy G. Woolcott, Graham G. Giles, Anthony J. Swerdlow, Per Hall, Kamila Czene, Artitaya Lophatananon, Åslaug Helland, Yu-Tang Gao, Vessela N. Kristensen, Manjeet K. Bolla, Anna H. Wu, Jacques Simard, John L. Hopper, Robert Luben, Julia A. Knight, Mark S. Goldberg, Thilo Dörk, Kay-Tee Khaw, Christopher G. Scott, Giuseppe Floris, Jennifer Stone, Madeleine M.A. Tilanus-Linthorst, Stig E. Bojesen, Daehee Kang, Qin Wang, Angela Cox, Fergus J. Couch, Jonathan Beesley, Maartje J. Hooning, Natalia Bogdanova, Brian E. Henderson, Paolo Peterlongo, Rulla M. Tamimi, Soo Hwang Teo, Diether Lambrechts, Ute Hamann, Wei Zheng, Volker Arndt, Juliet D. French, Stacey L. Edwards, Julian Peto, Ian Tomlinson, Ji Yeob Choi, Elinor J. Sawyer, Melissa C. Southey, Annegien Broeks, Arif B. Ekici, Heli Nevanlinna, Celine M. Vachon, Thérèse Truong, Amanda E. Toland, Javier Benitez, Barbara Burwinkel, Xiao-Ou Shu, Robert Winqvist, Pierre Antoine Dugué, Karen McCue, Mikael Hartman, Minouk J. Schoemaker, Keitaro Matsuo, Norbert Arnold, Deborah J. Thompson, Paolo Radice, Anna Jakubowska, Marjanka K. Schmidt, Hermann Brenner, Hoda Anton-Culver, Argyrios Ziogas, Jenny Chang-Claude, Alicia Beeghly-Fadiel, Veli-Matti Kosma, Hatef Darabi, Drakoulis Yannoukakos, Maya Ghoussaini, Rodney J. Scott, Maria Kabisch, Chen-Yang Shen, Suleeporn Sangrajrang, Montserrat Garcia-Closas, James McKay, Alfons Meindl, Christoph Engel, Joe Dennis, Chiu-Chen Tseng, Catriona McLean, Arja Jukkola-Vuorinen, Peter A. Fasching, Katharina Heusinger, Georgia Chenevix-Trench, Robert A.E.M. Tollenaar, Kyriaki Michailidou, Rita K. Schmutzler, Shivaani Mariapun, Silje Nord, Hiltrud Brauch, Peter Devilee, Isabel dos-Santos-Silva, Douglas F. Easton, Frederik Marmé, Vilde D. Haakensen, Wei-Yen Lim, Keith Humphreys, Siddhartha Kar, Anja Rudolph, Arto Mannermaa, Jan Lubinski, Anna González-Neira, Sara Margolin, Matthias W. Beckmann, Simon S. Cross, Anne Lise Børresen-Dale, Jonine D. Figueroa, Alison M. Dunning, Kenneth Muir, Sander Canisius, Jingmei Li, Carmel Apicella, Jyh-Cherng Yu, Gertraud Maskarinec, Roger L. Milne, Henrik Flyger, Irene L. Andrulis, Annika Lindblom, Sofia Khan, Diana Torres

المساهمون: Clinical Genetics, Obstetrics & Gynecology, Medical Oncology, Surgery, Cardiothoracic Surgery, Pulmonary Medicine, Thompson, Deborah [0000-0003-1465-5799], Ghoussaini, Maya [0000-0002-2415-2143], Dennis, Joe [0000-0003-4591-1214], Wang, Jean [0000-0002-9139-0627], Luben, Robert [0000-0002-5088-6343], Khaw, Kay-Tee [0000-0002-8802-2903], Dunning, Alison [0000-0001-6651-7166], Easton, Douglas [0000-0003-2444-3247], Apollo - University of Cambridge Repository

المصدر: American Journal of Human Genetics
American Journal of Human Genetics, 97(1), 22-34
American Journal of Human Genetics, 97(1), 22-34. Cell Press

مصطلحات موضوعية: Genotype, Quantitative Trait Loci, Autophagy-Related Proteins, Estrogen receptor, Breast Neoplasms, Genome-wide association study, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, White People, Article, Body Mass Index, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Asian People, SDG 3 - Good Health and Well-being, Odds Ratio, medicine, Genetics, Humans, SNP, Genetics(clinical), Luciferases, Genetics (clinical), 030304 developmental biology, Genetic association, 0303 health sciences, Chromosomes, Human, Pair 10, Haplotype, Age Factors, Chromosome Mapping, medicine.disease, 3. Good health, DNA-Binding Proteins, Enhancer Elements, Genetic, Gene Expression Regulation, 030220 oncology & carcinogenesis, Trans-Activators, Regression Analysis, Female, Genome-Wide Association Study, Transcription Factors

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f6f9067006b984f33ebb541f432ace5b

المؤلفون: Per Hall, Hui Cai, Roger L. Milne, Douglas F. Easton, Anja Rudolph, José Ignacio Arias, Vessela N. Kristensen, Julia A. Knight, Lisa B. Signorello, Petra Seibold, Jonathan Tyrer, Arto Mannermaa, Alan Ashworth, Andreas Schneeweiss, Sandra Deming-Halverson, Katarzyna Durda, Kimael Eriksson, Thilo Dörk, Isabel dos Santos Silva, Alfons Meindl, Laura Baglietto, Fredrick R. Schumacher, Peter Devilee, Qiuyin Cai, Janet E. Olson, Keith Humphreys, Annegien Broeks, Soo Hwang Teo, Michael P. Lux, Sze Yee Phuah, Federick Marme, Pascal Guénel, Hidemi Ito, Irene L. Andrulis, Natalia Bogdanova, Christoph Engel, Juliet D. French, Nina Ditsch, Xianshu Wang, Susan L. Slager, Bernardo Bonanni, Hermann Brenner, Nick Orr, Marie Rose Christiaens, Martine Dumont, Martin O'Reilly, Annika Lindblom, Catriona McLean, Ans M.W. van den Ouweland, Marjanka K. Schmidt, Sara Margolin, Kerstin B. Meyer, Martha J. Shrubsole, Malcolm W.R. Reed, Hans Ulrich Ulmer, Georgia Chenevix-Trench, Kyriaki Michailidou, Brian E. Henderson, Nicola Miller, Sandrine Tchatchou, Stig E. Bojesen, Pornthep Siriwanarangsan, Joe Dennis, Jaana M. Hartikainen, Matthias W. Beckmann, Fergus J. Couch, David Van Den Berg, Celine M. Vachon, Pierre Laurent-Puig, Montserrat Garcia-Closas, Ian Tomlinson, Thomas Brüning, Maya Ghoussaini, Mikael Hartman, Kristiina Aittomäki, Thérèse Truong, Katarzyna Jaworska, Yon Ko, Yu Tang Gao, Paolo Peterlongo, Stacey L. Edwards, Saskia Carlebur, Hartef Darabi, Pei Ei Wu, Ute Hamann, M. Pilar Zamora, Taru A. Muranen, Jirong Long, Stephen J. Chanock, William Blot, Sonja Helbig, Heiko Müller, Christina Clarke Dur, Ji Yeob Choi, Melissa C. Southey, Olivia Fletcher, Ming-Feng Hou, Hiroji Iwata, Nichola Johnson, Wei Zheng, Robert Winqvist, Diether Lambrechts, Javier Benitez, Chen-Yang Shen, Suleeporn Sangrajrang, Chia-Ni Hsiung, James McKay, Kristen S. Purrington, Cheng Har Yip, Ann Smeets, Valerie Gaborieau, Keitaro Matsuo, Anthony J. Swerdlow, Anne Lise Børresen-Dale, Anna Jakubowska, Dong Young Noh, Paul D.P. Pharoah, Ines de Santiago, Hiltrud Brauch, Vesa Kataja, Yasushi Yatabe, Anna H. Wu, Grethe I. Grenaker Alnæs, Jonine D. Figueroa, Christopher A. Haiman, Florence Menegaux, Hoda Anton-Culver, Paul Brennan, Veli-Matti Kosma, Bruce A.J. Ponder, Dieter Flesch-Janys, Thomas Rüdiger, Shaik Ahmad Buhari, Katri Pylkäs, Gord Glendon, Rita K. Schmutzler, Julian Peto, Chiu-Chen Tseng, Sune F. Nielsen, Mark S. Goldberg, Angela Cox, Carolien H.M. van Deurzen, Artitaya Lophatananon, Radhika Prathalingham, Børge G. Nordestgaard, Arja Jukkola-Vuorinen, Wei Lu, Peter A. Fasching, Florentia Fostira, Wei-Yen Lim, Barbara Burwinkel, Jenny Chang-Claude, Michael J. Kerin, Maartje J. Hooning, Kamila Czene, Asta Försti, Loic Le Marchand, Gianluca Severi, Volker Arndt, John L. Hopper, Jan Lubinski, Jacques Simard, Frans B. L. Hogervorst, Alison M. Dunning, Kenneth Muir, Saila Kauppila, Laura J. van't Veer, John W.M. Martens, Helen Tsimiklis, Loris Bernard, Heli Nevanlinna, Jolanta Lissowska, Robert Pilarski, Qin Wang, Paolo Radice, Robert A.E.M. Tollenaar, Jianjun Liu, Graham G. Giles, Henrik Flyger, Arif B. Ekici, Xiao-Ou Shu, Manjeet K. Bolla, Carl Blomqvist, Daehee Kang, Argyrios Ziogas, Bernard Thienpont, Patricia Harrington, Sue K. Park, Christa Stegmaier, Sarah Stewart-Brown, Elinor J. Sawyer, Miao Hui, Susan L. Neuhausen, Daniel O. Stram, Christof Sohn, Minouk J. Schoemaker, Jingmei Li, Carmel Apicella, Caroline M. Seynaeve

المساهمون: Clinical Genetics, Medical Oncology, Pathology, Cardiothoracic Surgery

المصدر: The American Journal of Human Genetics; Vol 93
American Journal of Human Genetics, 93(6), 1046-1060. Cell Press
American Journal of Human Genetics, 93(6), 1046-1060
The American Journal of Human Genetics
American journal of human genetics, vol 93, iss 6

مصطلحات موضوعية: Fibroblast Growth Factor, african-american, Genome-wide association study, Medical and Health Sciences, Chromosome conformation capture, 0302 clinical medicine, 2.1 Biological and endogenous factors, Genetics(clinical), Aetiology, Promoter Regions, Genetic, Genetics (clinical), Cancer, African Continental Ancestry Group, Genetics & Heredity, Genetics, 0303 health sciences, Tumor, Chromosome Mapping, Biological Sciences, 3. Good health, Chromatin, Gene Expression Regulation, Neoplastic, 030220 oncology & carcinogenesis, kConFab Investigators, Female, RNA Interference, women, GENICA Network, transcription, reveals, Type 2, Alleles, Asian Continental Ancestry Group, Binding Sites, Breast Neoplasms, Case-Control Studies, Cell Line, Tumor, Chromatin Immunoprecipitation, E2F1 Transcription Factor, European Continental Ancestry Group, Genetic Association Studies, Haplotypes, Hepatocyte Nuclear Factor 3-alpha, Humans, Position-Specific Scoring Matrices, Protein Binding, Receptor, Fibroblast Growth Factor, Type 2, Genetic Loci, Receptor, Australian Ovarian Cancer Study Group, Black People, Single-nucleotide polymorphism, Locus (genetics), Biology, determinant, White People, Article, Cell Line, estrogen-receptor binding, Promoter Regions, 03 medical and health sciences, Genetic, SDG 3 - Good Health and Well-being, Asian People, Breast Cancer, expression, ddc:610, Allele, 030304 developmental biology, Neoplastic, Prevention, Human Genome, Molecular biology, susceptibility loci, Gene Expression Regulation, genome-wide association, chromatin, Hypersensitive site, Chromatin immunoprecipitation

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::55648b7cdc44d12a453f032be172b093

المؤلفون: Joanne L. Blum, Lutecia Pereira, Douglas F. Easton, Timothy R. Rebbeck, Frans B L Hogervorst, Javier Benítez, Fiona Douglas, Carol Chu, Susan Peock, Csilla Szabo, Fergus J. Couch, Brigitte Bressac-de Paillerets, Ute Hamann, Roni Milgrom, Maria A. Caligo, W. Hofmann, M. Barile, Patricia A. Ganz, Paolo Radice, Xiaoqing Chen, Radka Platte, Christian Sutter, Sylvie Mazoyer, Diana Eccles, Sue Healey, Corinne Capoulade, Amanda B. Spurdle, Violaine Bourdon, Jonathan Beesley, Gemma Llort, Alfons Meindl, Antonis Antoniou, Georgia Chenevix-Trench, Paolo Peterlongo, Olga M. Sinilnikova, Agnès Chompret, Claudine Isaacs, Ana Osorio, Claude Houdayer, Flavio Lejbkowicz, Susan L. Neuhausen, Peggy Manders, Mark H. Greene, Roger L. Milne, Gad Rennert, Henry T. Lynch, Eitan Friedman, Christoph Engel, Irene L. Andrulis, Gail E. Tomlinson, Rosalind A. Eeles, Dieter Niederacher, Marjolijn J L Ligtenberg, Hagay Sobol, Ofra Barnett-Griness, D. Gareth Evans, M. Cook, Gilbert M. Lenoir, Mary B. Daly, Hilmi Ozcelik, Ans M.W. van den Ouweland, François Eisinger, Beatrix Versmold, Bella Kaufman, Helmut Deissler, Trinidad Caldés, Rosemarie Davidson, Susan M. Domchek, Marion Gauthier-Villars, Gabriella Pichert, Dominique Stoppa-Lyonnet, Siranoush Manoukian, Andrew K. Godwin, Heli Nevanlinna, Norbert Arnold, Anne-Marie Gerdes, Olufunmilayo I. Olopade, Laure Barjhoux, Katherine L. Nathanson, Yael Laitman, Rita K. Schmutzler, Theresa Wagner, Jeffrey N. Weitzel, Karen A. Pooley, Kati Kämpjärvi, Jacques Simard

المساهمون: Clinical Genetics

المصدر: American Journal of Human Genetics, 82(4), 937-948. Cell Press
American Journal of Human Genetics, 82, 937-48
American Journal of Human Genetics, 82, 4, pp. 937-48
Antoniou, A C, Spurdle, A B, Sinilnikova, O M, Healey, S, Pooley, K A, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Arnold, N, Hofmann, W, Sutter, C, Niederacher, D, Deissler, H, Caldes, T, Kämpjärvi, K, Nevanlinna, H, Simard, J, Beesley, J, Chen, X, for Research into Familial Breast Cancer, K C, Neuhausen, S L, Rebbeck, T R, Wagner, T, Lynch, H T, Isaacs, C, Weitzel, J, Ganz, P A, Daly, M B, Tomlinson, G, Olopade, O I, Blum, J L, Couch, F J, Peterlongo, P, Manoukian, S, Barile, M, Radice, P, Szabo, C I, Pereira, L H M, Greene, M H, Rennert, G, Lejbkowicz, F, Barnett-Griness, O, Andrulis, I L, Ozcelik, H, Group, OCGN, Gerdes, A-M, Caligo, M A, Laitman, Y, Kaufman, B, Milgrom, R, Friedman, E, study collaborators, S BRCA A BRCA, Domchek, S M, Nathanson, K L, Osorio, A, Llort, G, Milne, R L, Benítez, J, Hamann, U, Hogervorst, F B L, Manders, P, Ligtenberg, M J L, van den Ouweland, A M W, collaborators, DNA-HEBON, Peock, S, Cook, M, Platte, R, Evans, D G, Eeles, R, Pichert, G, Chu, C, Eccles, D, Davidson, R, Douglas, F, Group, EMBRACE, Godwin, A K, Barjhoux, L, Mazoyer, S, Sobol, H, Bourdon, V, Eisinger, F, Chompret, A, Capoulade, C, Bressac-de Paillerets, B, Lenoir, G M, Gauthier-Villars, M, Houdayer, C, Stoppa-Lyonnet, D, Group, GEMO, Chenevix-Trench, G, Easton, D F & Group, CIMBA 2008, ' Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers ', American Journal of Human Genetics, vol. 82, no. 4, pp. 937-48 . https://doi.org/10.1016/j.ajhg.2008.02.008

مصطلحات موضوعية: Adult, Risk, endocrine system diseases, Genetic counseling, Genes, BRCA2, Population, Genes, BRCA1, MAP Kinase Kinase Kinase 1, Breast Neoplasms, Single-nucleotide polymorphism, Biology, Polymorphism, Single Nucleotide, Article, Genomic disorders and inherited multi-system disorders [IGMD 3], 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Germline mutation, SDG 3 - Good Health and Well-being, Translational research [ONCOL 3], Genetics, medicine, Humans, Genetic Predisposition to Disease, Genetics(clinical), Receptor, Fibroblast Growth Factor, Type 2, skin and connective tissue diseases, education, Germ-Line Mutation, Genetics (clinical), Aged, Molecular diagnosis, prognosis and monitoring [UMCN 1.2], 030304 developmental biology, 0303 health sciences, education.field_of_study, Hereditary cancer and cancer-related syndromes [ONCOL 1], Cancer, Middle Aged, medicine.disease, 3. Good health, TOX3, 030220 oncology & carcinogenesis, Cancer research, Female, Breast disease

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bd78a8955d67aa7636c6ee373892630
https://doi.org/10.1016/j.ajhg.2008.02.008

المؤلفون: Sara Pizzamiglio, Filomena Ficarazzi, Christoph Engel, Rita K. Schmutzler, Barbara Burwinkel, Amanda B. Spurdle, Melissa C. Southey, Jonathan Beesley, Paolo Peterlongo, Monica Barile, John L. Hopper, Barbara Wappenschmidt, Paolo Verderio, Georgia Chenevix-Trench, Paolo Radice, Siranoush Manoukian, Peter Bugert, Xiaoqing Chen

المصدر: Journal of medical genetics. 47(4)

مصطلحات موضوعية: Oncology, medicine.medical_specialty, Genes, BRCA1, Single-nucleotide polymorphism, Genome-wide association study, Breast Neoplasms, Biology, Polymorphism, Single Nucleotide, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Internal medicine, Genetics, medicine, Humans, Genetic Predisposition to Disease, Risk factor, skin and connective tissue diseases, Promoter Regions, Genetic, Genetics (clinical), 030304 developmental biology, 0303 health sciences, BRCA1 Protein, Case-control study, Cancer, medicine.disease, 3. Good health, Minor allele frequency, Endocrinology, Logistic Models, 030220 oncology & carcinogenesis, Case-Control Studies, Female, Breast disease, Genome-Wide Association Study

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::56ec82e4b8f85c6376f938c01b2f4aa8
https://pubmed.ncbi.nlm.nih.gov/20413709

المؤلفون: Frederik J. Hes, Julian R. Sampson, Fokko N. Nagengast, Gabriel Capellá, Yann Parc, Christoph Engel, Ian M. Frayling, Pål Møller, Ignacio Blanco, Laura Renkonen-Sinisalo, Waltraut Friedl, Astrid Stormorken, G Moslein, John Burn, Hans F. A. Vasen, Lucio Bertario, Jukka-Pekka Mecklin, Shirley Hodgson, Juul T. Wijnen, Inge Bernstein, Angel Alonso

المساهمون: Clinical sciences, Medical Genetics, Faculty of Psychology and Educational Sciences

المصدر: Journal of Medical Genetics, 44, 6, pp. 353-62
Journal of Medical Genetics, 44, 353-62

مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, Colon, Colorectal cancer, Review, Aetiology, screening and detection [ONCOL 5], Europe/epidemiology, 03 medical and health sciences, 0302 clinical medicine, Endometrial Neoplasms/epidemiology, Colon/pathology, Genetics, medicine, Humans, Genetic Testing, Molecular gastro-enterology and hepatology [IGMD 2], Genetics (clinical), Genetic testing, Molecular diagnosis, prognosis and monitoring [UMCN 1.2], medicine.diagnostic_test, Hereditary cancer and cancer-related syndromes [ONCOL 1], business.industry, Endometrial cancer, Cancer, 16. Peace & justice, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, digestive system diseases, Lynch syndrome, Endometrial Neoplasms, 3. Good health, Europe, MSH6, Systematic review, MSH2, 030220 oncology & carcinogenesis, Family medicine, Practice Guidelines as Topic, Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis, Female, 030211 gastroenterology & hepatology, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9808684c2251ae7f15ed7deb80227d55
https://hdl.handle.net/2066/53615