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1
المؤلفون: V. Wendy Setiawan, Ana Osorio, Liv Cecilie Vestrheim Thomsen, Francesca Gensini, Harsha Pathak, Barbara Wappenschmidt, Ingo B. Runnebaum, Javier Benitez, Rita K. Schmutzler, Jeffrey N. Weitzel, Yin Ling Woo, Kenneth Offit, Anthony N. Karnezis, Eitan Friedman, Jacques Simard, James M. Flanagan, Pedro Pérez-Segura, Siranoush Manoukian, Melissa C. Southey, Ramunas Janavicius, Finn Cilius Nielsen, Graham G. Giles, Usha Menon, Ava Kwong, Anna H. Wu, Thomas Hansen, Cristina Rodríguez-Antona, Maria A. Caligo, Argyrios Ziogas, Allison DePersia, Anna P. Sokolenko, Clarice R. Weinberg, Hoda Anton-Culver, Digna R. Velez Edwards, Jennifer B. Permuth, Patricia A. Ganz, Ana Vega, Keitaro Matsuo, Heli Nevanlinna, Frances Wang, Natalia Antonenkova, Claudine Isaacs, Conxi Lázaro, Melissa C. Larson, Henriette Roed Nielsen, Byoung-Gie Kim, Andreas du Bois, Dale P. Sandler, Anna Jakubowska, Paul D.P. Pharoah, Jenny Lester, Paolo Radice, Natalia Bogdanova, Lambertus A. Kiemeney, Mary Anne Rossing, Thilo Dörk, Ruea-Yea Huang, Judy Garber, Taymaa May, Diana Eccles, Mary Beth Terry, Jenny Chang-Claude, Jeffrey R. Marks, Dominique Stoppa-Lyonnet, Heather Eliassen, Douglas A. Levine, Phuong L. Mai, Gerasimos Aravantinos, Hui Cai, Britton Trabert, Amanda Black, Noura Mebirouk, Robin de Putter, Rayna K. Matsuno, Ralf Bützow, Joanne Ngeow Yuen Yie, James D. Brenton, Nadine Tung, Drakoulis Yannoukakos, Jonathan Tyrer, L Yan, Yen Y. Tan, Ian Komenaka, Simona Agata, Honglin Song, Tanja Pejovic, Marjorie J. Riggan, Antonis C. Antoniou, Katja K.H. Aben, Goska Leslie, Eric A. Ross, Estrid Høgdall, Kang Shan, Holly R. Harris, Eleanor Davies, Liene Nikitina-Zake, Florian Heitz, Stephen J. Chanock, Matthew Jones, Beth Y. Karlan, Matthias W. Beckmann, Penelope M. Webb, John L. Hopper, Peter A. Fasching, Jacek Gronwald, kConFab Investigators, Ana Peixoto, Joellen M. Schildkraut, Renée T. Fortner, Susan L. Neuhausen, Daehee Kang, Anthony J. Swerdlow, Lesley McGuffog, Marco Montagna, Paolo Peterlongo, Daniel R. Barnes, Marina Bermisheva, Alicja Wolk, Yuan Chun Ding, Marc Tischkowitz, Gord Glendon, Elza Khusnutdinova, Julie M. Cunningham, Saundra S. Buys, Albina N. Minlikeeva, Jennifer A. Doherty, Annemieke H. van der Hout, Austin Miller, Fergus J. Couch, Fabienne Lesueur, Peter Devilee, Kristin K. Zorn, Daniel Barrowdale, Christian F. Singer, Line Bjørge, Åke Borg, Diether Lambrechts, Shelley S. Tworoger, Allan Jensen, Ute Hamann, Douglas F. Easton, Bernardo Bonanni, Alvaro N.A. Monteiro, Johanna Rantala, Marc T. Goodman, Ellen Valen, Wei Zheng, Thomas A. Sellers, Marcus Q. Bernardini, Alice S. Whittemore, Kunle Odunsi, Inge Søkilde Pedersen, Laura Papi, Mads Thomassen, Allison W. Kurian, Emily White, Penny Soucy, D. Gareth Evans, Lenka Foretova, Kathryn L. Terry, Ruth C. Travis, Claus Høgdall, Hebon Investigators, Darya Prokofyeva, Stacey J. Winham, Yoke-Eng Chiew, Eileen Dareng, Jan Lubinski, Elizabeth Munro, Oskar T. Johannsson, Linda E. Kelemen, Kexin Chen, Xin Yang, Manuel R. Teixeira, Anna M. Piskorz, Edith Olah, Helen Steed, Beth N. Peshkin, Georgia Chenevix-Trench, Andrew K. Godwin, Pamela J. Thompson, Chad D. Huff, Rosa B. Barkardottir, Muriel A. Adank, Mikael Hartman, Linda J. Titus, Weiva Sieh, Simon A. Gayther, Peter J. Hulick, Michael T. Parsons, Elisa V. Bandera, Amanda E. Toland, Miguel de la Hoya, Orland Diez, Alicia Beeghly-Fadiel, Rebecca Sutphen, Francesmary Modugno, Judith Balmaña, Christoph Engel, Harvey A. Risch, Elizabeth J. van Rensburg, Michael Jones, Rikki Cannioto, Michelle A.T. Hildebrandt, Soo Hwang Teo, Fanny Dao, Susan J. Ramus, Sarah Colanna, Kathleen Claes, David G. Huntsman, Siel Olbrecht, Esther M. John, Robert A. Vierkant, Wendy K. Chung, Ellen L. Goode, Olufunmilayo I. Olopade, Evgeny N. Imyanitov, Joe Dennis, Andrew Berchuck, Banu Arun, Darcy L. Thull, Lian Li, Celeste Leigh Pearce, Sue K. Park, Susan M. Domchek, Agnieszka Budzilowska, Håkan Olsson, Susanne K. Kjaer, Mark H. Greene, Katia M. Zavaglia, Jolanta Kupryjanczyk, Nicolas Wentzensen, Karen H. Lu, Hayley Cassingham, Christopher A. Haiman, Eric Hahnen, Els Van Nieuwenhuysen, Katherine L. Nathanson, Anna deFazio, Ian G. Campbell, Paul A. James, Sara H. Olson, Eva Machackova, Anne M. van Altena, Irene L. Andrulis, Linda S. Cook, Matthias Dürst, Mary B. Daly, John R. McLaughlin, Niclas Håkansson, Jingmei Li, Diana Torres, Iain A. McNeish, Jennifer T. Loud, Roger L. Milne, Marta Santamariña, Annelie Augustinsson, Nhu D. Le, Kate Lawrenson, Kirsten B. Moysich
المساهمون: Dareng, Eileen O [0000-0003-0802-419X], Tyrer, Jonathan [0000-0003-3724-4757], Barnes, Daniel [0000-0002-3781-7570], Jones, Michelle R [0000-0001-5466-3844], Agata, Simona [0000-0002-6329-0768], Anton-Culver, Hoda [0000-0002-9603-0110], Augustinsson, Annelie [0000-0003-3415-0536], Bandera, Elisa V [0000-0002-8789-2755], Barkardottir, Rosa B [0000-0003-0629-2772], Brenton, James [0000-0002-5738-6683], Campbell, Ian [0000-0002-7773-4155], Chen, Kexin [0000-0003-1010-8093], Chung, Wendy K [0000-0003-3438-5685], Claes, Kathleen BM [0000-0003-0841-7372], Devilee, Peter [0000-0002-8023-2009], Diez, Orland [0000-0001-7339-0570], Bois, Andreas du [0000-0002-8477-506X], Eccles, Diana M [0000-0002-9935-3169], Eliassen, Heather A [0000-0002-3961-6609], Ganz, Patricia A [0000-0002-1841-4143], Giles, Graham G [0000-0003-4946-9099], Glendon, Gord [0000-0001-8630-6673], Greene, Mark H [0000-0003-1852-9239], Hartman, Mikael [0000-0001-5726-9965], Heitz, Florian [0000-0002-2412-0352], Isaacs, Claudine [0000-0002-9646-1260], Janavicius, Ramunas [0000-0002-3773-8485], John, Esther M [0000-0003-3259-8003], Kang, Daehee [0000-0003-4031-5878], Karlan, Beth Y [0000-0002-9451-2933], Khusnutdinova, Elza [0000-0003-2987-3334], Kjaer, Susanne K [0000-0002-8347-1398], Manoukian, Siranoush [0000-0002-6034-7562], Matsuo, Keitaro [0000-0003-1761-6314], Menon, Usha [0000-0003-3708-1732], Miller, Austin [0000-0001-9739-8462], Nikitina-Zake, Liene [0000-0003-2491-5187], Olbrecht, Siel [0000-0001-9452-5905], Olopade, Olufunmilayo I [0000-0002-9936-1599], Olson, Sara H [0000-0003-0182-2754], Papi, Laura [0000-0003-4552-9517], Park, Sue K [0000-0001-5002-9707], Parsons, Michael T [0000-0003-3242-8477], Permuth, Jennifer B [0000-0002-4726-9264], Peterlongo, Paolo [0000-0001-6951-6855], Radice, Paolo [0000-0001-6298-4111], Swerdlow, Anthony J [0000-0001-5550-4159], Toland, Amanda E [0000-0002-0271-1792], Webb, Penelope M [0000-0003-0733-5930], Weinberg, Clarice R [0000-0002-7713-8556], Weitzel, Jeffrey N [0000-0001-6714-092X], Winham, Stacey J [0000-0002-8492-9102], Wolk, Alicja [0000-0001-7387-6845], Yannoukakos, Drakoulis [0000-0001-7509-3510], Easton, Douglas [0000-0003-2444-3247], Ramus, Susan J [0000-0003-0005-7798], Chenevix-Trench, Georgia [0000-0002-1878-2587], Apollo - University of Cambridge Repository
مصطلحات موضوعية: Oncology, medicine.medical_specialty, 45/61, 45/43, Single-nucleotide polymorphism, Logistic regression, 631/208/2489, 03 medical and health sciences, 0302 clinical medicine, Lasso (statistics), Internal medicine, Genotype, medicine, SNP, 030304 developmental biology, 0303 health sciences, business.industry, Hazard ratio, article, Odds ratio, 631/208/721, medicine.disease, 3. Good health, 030220 oncology & carcinogenesis, business, Ovarian cancer, 692/499
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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/djab147
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/djab147
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/djab147
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/djab147مصطلحات 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
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المؤلفون: Judith Balmaña, Douglas F. Easton, Adeline Cuggia, Kenneth Offit, Heli Nevanlinna, Judy Garber, Florentia Fostira, Kelly A. Metcalfe, Jana Soukupova, Carlo Tondini, Orland Diez, George Zogopoulos, James Scarth, Marketa Janatova, Tuya Pal, Mark E. Robson, James E. Redman, Laura Ottini, Patrick Concannon, Ann S.G. Lee, Åke Borg, Anders Kvist, Sandra Schneider, Valentina Silvestri, Christoph Engel, Rachel Silva-Smith, Antoine De Pauw, Tu Nguyen-Dumont, Inga Plaskocinska, Katherine L. Nathanson, Hans Ehrencrona, Susan J. Ramus, Rita K. Schmutzler, Craig Luccarini, Mitul Shah, Sophia George, Goska Leslie, Jeffrey N. Weitzel, Irene Konstantopoulou, Carl Blomqvist, William D. Foulkes, Georgia Chenevix-Trench, Marc Tischkowitz, Thomas van Overeem Hansen, Pei Sze Ng, Kathleen Claes, Ellen L. Goode, Olufunmilayo I. Olopade, Sarah M. Nielsen, Andy C. H. Lee, Melissa C. Southey, Ramunas Janavicius, Jill S. Dolinsky, Alfons Meindl, Paolo Peterlongo, Julie O. Culver, Kristiina Aittomäki, Robert Winqvist, Alison H. Trainer, Tuomas Heikkinen, Paolo Radice, David E. Goldgar, Florian Obermair, Marie E. Wood, Jonine L. Bernstein, Sook-Yee Yoon, Paul D.P. Pharoah, Christopher R. Hake, Claude Houdayer, Irene L. Andrulis, Aaron Elliott, Zaki El-Haffaf, Petra Kleiblova, Jukka S. Moilanen, Judith Hurley, Antonis C. Antoniou, Siranoush Manoukian, Fergus J. Couch, Anne-Bine Skytte, Susan L. Neuhausen, Gary Unzeitig, D. Gareth Evans, Eamonn R. Maher, John L. Hopper, Rachel McFarland, James A. G. Whitworth, Judith Penkert, Julian Barwell, Susan M. Domchek, Zdenek Kleibl, Leila Dorling, Lisa Golmard, Peter Ang, Brennan Decker, Cheng Har Yip, Nur Aishah Taib, Vilius Rudaitis, Julian Adlard, Xin Yang, Jamie Allen, Lydia Usha, Francesca Damiola, Amal Yussuf, Katri Pylkäs, Alicja Doroszuk, Eric Hahnen, Muriel A. Adank, Karen A. Pooley, Soo Hwang Teo, Kristie Bobolis, Paul A. James, Alison M. Dunning, Holly LaDuca, Stephen B. Gruber, Wendy McKinnon, Fabienne Lesueur, Lucy Side, Arto Mannermaa, Thomas P. Slavin
المساهمون: Medicum, Kristiina Aittomäki / Principal Investigator, HUSLAB, Department of Medical and Clinical Genetics, University of Helsinki, HUS Comprehensive Cancer Center, Department of Oncology, Clinicum, Department of Obstetrics and Gynecology, HUS Gynecology and Obstetrics
المصدر: Yang, X, Leslie, G, Doroszuk, A, Schneider, S, Allen, J, Decker, B, Dunning, A M, Redman, J, Scarth, J, Plaskocinska, I, Luccarini, C, Shah, M, Pooley, K, Dorling, L, Leei, A, Adank, M A, Adlard, J, Aittomäki, K, Andrulis, I L, Ang, P, Barwell, J, Bernstein, J L, Bobolis, K, Borg, Å, Blomqvist, C, Claes, K B M, Concannon, P, Cuggia, A, Culver, J O, Damiola, F, De Pauw, A, Diez, O, Dolinsky, J S, Domchek, S M, Engel, C, Evans, D G, Fostira, F, Garber, J, Golmard, L, Goode, E L, Gruber, S B, Hahnen, E, Hake, C, Heikkinen, T, Hurley, J E, Janavicius, R, Kleibl, Z, Kleiblova, P, Konstantopoulou, I, Kvist, A, Laduca, H, Lee, A S G, Lesueur, F, Maher, E R, Mannermaa, A, Manoukian, S, McFarland, R, McKinnon, W, Meindl, A, Metcalfe, K, Taib, N A M, Moilanen, J, Nathanson, K L, Neuhausen, S, Ng, P S, Nguyen-Dumont, T, Nielsen, S M, Obermair, F, Offit, K, Olopade, O I, Ottini, L, Penkert, J, Pylkäs, K, Radice, P, Ramus, S J, Rudaitis, V, Side, L, Silva-Smith, R, Silvestri, V, Skytte, A B, Slavin, T, Soukupova, J, Tondini, C, Trainer, A H, Unzeitig, G, Usha, L, Van Overeem Hansen, T, Whitworth, J, Wood, M, Yip, C H, Yoon, S Y, Yussuf, A, Zogopoulos, G, Goldgar, D, Hopper, J L, Chenevix-Trench, G, Pharoah, P, George, S H L, Balmaña, J, Houdayer, C, James, P, El-Haffaf, Z, Ehrencrona, H, Janatova, M, Peterlongo, P, Nevanlinna, H, Schmutzler, R, Teo, S H, Robson, M, Pal, T, Couch, F, Weitzel, J N, Elliott, A, Southey, M, Winqvist, R, Easton, D F, Foulkes, W D, Antoniou, A C & Tischkowitz, M 2020, ' Cancer risks associated with germline PALB2 pathogenic variants : An international study of 524 families ', Journal of Clinical Oncology, vol. 38, no. 7, pp. 674-685 . https://doi.org/10.1200/JCO.19.01907
مصطلحات موضوعية: 0301 basic medicine, Oncology, PENETRANCE, Cancer Research, medicine.medical_specialty, PALB2, 3122 Cancers, ASCERTAINMENT SAMPLING PROBLEM, Germline, 03 medical and health sciences, 0302 clinical medicine, Germline mutation, Breast cancer, Prostate, Internal medicine, Pancreatic cancer, HISTORY, medicine, BREAST-CANCER, business.industry, BRCA2-INTERACTING PROTEIN PALB2, Cancer, OVARIAN, medicine.disease, BRCA2, PANCREATIC-CANCER, 3. Good health, SUSCEPTIBILITY GENE-MUTATIONS, 030104 developmental biology, medicine.anatomical_structure, RESOLUTION, 030220 oncology & carcinogenesis, Palb2, pathogenic variants, cancer risk, business, Ovarian cancer
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fa6efd9d1ddf683873bdcb0c64763fb9
https://doi.org/10.1200/jco.19.01907 -
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المؤلفون: Ana Osorio, Marinus J. Blok, Douglas F. Easton, Mary B. Daly, Nadine Andrieu, Michael Friedlander, Roger L. Milne, Brita Arver, Anne-Marie Gerdes, Olivier Caron, Katie Snape, D. Gareth Evans, Jacques Simard, David E. Goldgar, Anna Jakubowska, Edith Olah, Hongyan Li, Karin Kast, Dominique Stoppa-Lyonnet, Yen Y. Tan, Håkan Olsson, Lisa Walker, Trinidad Caldés, Véronique Mari, Catherine Noguès, Mary Porteous, Louise Izatt, Christoph Engel, Irene L. Andrulis, Rita K. Schmutzler, Hanne Meijers-Heijboer, Daniel Barrowdale, Johan J.P. Gille, Marc Tischkowitz, John L. Hopper, Marie Jose Roos-Blom, Matti A. Rookus, Mary Beth Terry, Marie Navratilova, Nicoline Hoogerbrugge, Lucy Side, Christine Lasset, T.M. Mooij, Christian F. Singer, Saundra S. Buys, Flora E. van Leeuwen, Sue-Anne McLachlan, Pascaline Berthet, Mark T. Rogers, Carole Brewer, Antonis C. Antoniou, Kelly-Anne Phillips, Lenka Foretova, Debra Frost, Esther M. John
المساهمون: RS: GROW - R4 - Reproductive and Perinatal Medicine, MUMC+: DA KG Lab Centraal Lab (9), APH - Quality of Care, APH - Methodology, Graduate School, Human genetics, Amsterdam Neuroscience - Complex Trait Genetics, CCA - Cancer Treatment and quality of life
المصدر: Li, H, Terry, M B, Antoniou, A C, Phillips, K-A, Kast, K, Mooij, T M, Engel, C, Noguès, C, Stoppa-Lyonnet, D, Lasset, C, Berthet, P, Mari, V, Caron, O, Barrowdale, D, Frost, D, Brewer, C, Evans, D G, Izatt, L, Side, L, Walker, L, Tischkowitz, M, Rogers, M T, Porteous, M E, Meijers-Heijboer, H E J, Gille, J J, Blok, M J, Hoogerbrugge, N, Daly, M B, Andrulis, I L, Buys, S S, John, E M, McLachlan, S-A, Friedlander, M, Tan, Y Y, Osorio, A, Caldes, T, Jakubowska, A, Simard, J, Singer, C F, Olah, E, Navratilova, M, Foretova, L, Gerdes, A-M, Roos-Blom, M-J, Arver, B, Olsson, H, Schmutzler, R K, Hopper, J L, Milne, R L, Easton, D F, Van Leeuwen, F E, Rookus, M A, Andrieu, N & Goldgar, D E 2019, ' Alcohol consumption, cigarette smoking, and risk of breast cancer for BRCA1 and BRCA2 mutation carriers : results from The BRCA1 and BRCA2 Cohort Consortium ', Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology . https://doi.org/10.1158/1055-9965.EPI-19-0546
Cancer Epidemiology Biomarkers & Prevention, 29(2), 368-378. American Association for Cancer Research Inc.
Li, H, Terry, M B, Antoniou, A C, Phillips, K A, Kast, K, Mooij, T M, Engel, C, Noguès, C, Stoppa-Lyonnet, D, Lasset, C, Berthet, P, Mari, V, Caron, O, Barrowdale, D, Frost, D, Brewer, C, Evans, D G, Izatt, L, Side, L, Walker, L, Tischkowitz, M, Rogers, M T, Porteous, M E, Snape, K, Meijers-Heijboer, H E J, Gille, J J P, Blok, M J, Hoogerbrugge, N, Daly, M B, Andrulis, I L, Buys, S S, John, E M, McLachlan, S A, Friedlander, M, Tan, Y Y, Osorio, A, Caldes, T, Jakubowska, A, Simard, J, Singer, C F, Olah, E, Navratilova, M, Foretova, L, Gerdes, A M, Roos-Blom, M J, Arver, B, Olsson, H, Schmutzler, R K, Hopper, J L, Milne, R L, Easton, D F, Van Leeuwen, F E, Rookus, M A, Andrieu, N, Goldgar, D E, GENEPSO study, EMBRACE Study, HEBON Investigators & KConFab Investigators 2020, ' Alcohol Consumption, Cigarette Smoking, and Risk of Breast Cancer for BRCA1 and BRCA2 Mutation Carriers : Results from The BRCA1 and BRCA2 Cohort Consortium ', Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, vol. 29, no. 2, pp. 368-378 . https://doi.org/10.1158/1055-9965.EPI-19-0546
Cancer epidemiology, biomarkers & prevention, 29(2), 368-378. American Association for Cancer Research Inc.
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology, 29(2), 368-378
Cancer Epidemiology, Biomarkers & Prevention, 29, 2, pp. 368-378
Cancer Epidemiology, Biomarkers & Prevention, 29, 368-378مصطلحات موضوعية: 0301 basic medicine, Oncology, medicine.medical_specialty, life-style, PROGNOSIS, endocrine system diseases, Epidemiology, Population, SUSCEPTIBILITY, 03 medical and health sciences, 0302 clinical medicine, Breast cancer, Internal medicine, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], Medicine, ovarian, education, Prospective cohort study, skin and connective tissue diseases, education.field_of_study, business.industry, Proportional hazards model, BRCA mutation, Retrospective cohort study, medicine.disease, 3. Good health, KCONFAB, 030104 developmental biology, 030220 oncology & carcinogenesis, Cohort, Mutation (genetic algorithm), business
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document; application/pdf
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05de4a5fb469a831ac089920b610170e
https://doi.org/10.1158/1055-9965.epi-19-0546 -
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المؤلفون: Guy Rosner, Walter Hernán Pavicic, Claudia Perne, Carlos A. Vaccaro, Elke Holinski-Feder, Leticia Moreira, Wouter H. de Vos tot Nederveen Cappel, Stefan Aretz, Einar Andreas Rødland, Polly A. Newcomb, Karin Alvarez, Ariadna Sánchez, Lone Sunde, Wolff Schmiegel, Joan Brunet, Marc S. Greenblatt, Christina Therkildsen, Karl Heinimann, Lior H. Katz, Fiona Lalloo, Jürgen Weitz, Anna Lepistö, Rolf H. Sijmons, Maartje Nielsen, Hans F. A. Vasen, Deepak Vangala, Monika Morak, Jukka-Pekka Mecklin, Toni T. Seppälä, Sigve Nakken, Stefanie Holzapfel, Douglas Tjandra, Finlay A. Macrae, Päivi Peltomäki, Daniel D. Buchanan, Stephen N. Thibodeau, Adriana Della Valle, James Hill, Annika Lindblom, Bernardo Bonanni, Reinhard Büttner, Francisco López-Köstner, Giulia Martina Cavestro, John Burn, Emma J Crosbie, Lucio Bertario, Sanne W. ten Broeke, D. G. R. Evans, Kate Green, Verena Steinke-Lange, Eivind Hovig, Miquel Serra-Burriel, Francesc Balaguer, Kirsi Pylvänäinen, Gabriela Möslein, Revital Kariv, Thomas Hansen, Maria Grazia Tibiletti, Tamara Alejandra Piñero, Nils Rahner, Magnus von Knebel Doeberitz, Ingrid Winship, Nathan Gluck, Lars Joachim Lindberg, Christoph Engel, Mev Dominguez-Valentin, John-Paul Plazzer, Julian R. Sampson, Marta Pineda, John L. Hopper, Pablo Kalfayan, Heike Görgens, Aung Ko Win, Steven Gallinger, Loic Le Marchand, Mark A. Jenkins, Markus Loeffler, Noralane M. Lindor, Inge Bernstein, Pål Møller, Laura Renkonen-Sinisalo, Florencia Neffa, Huw Thomas, Gabriel Capellá, Jane C. Figueiredo, Miriam Mints, Patricia Esperon, Matilde Navarro, Robert Hüneburg
المساهمون: Guided Treatment in Optimal Selected Cancer Patients (GUTS), HUS Abdominal Center, Department of Surgery, Genome-Scale Biology (GSB) Research Program, II kirurgian klinikka, ATG - Applied Tumor Genomics, Research Programs Unit, Clinicum, Department of Medical and Clinical Genetics, Dominguez-Valentin, M., Plazzer, J. -P., Sampson, J. R., Engel, C., Aretz, S., Jenkins, M. A., Sunde, L., Bernstein, I., Capella, G., Balaguer, F., Macrae, F., Winship, I. M., Thomas, H., Evans, D. G., Burn, J., Greenblatt, M., de Vos tot Nederveen Cappel, W. H., Sijmons, R. H., Nielsen, M., Bertario, L., Bonanni, B., Tibiletti, M. G., Cavestro, G. M., Lindblom, A., Della Valle, A., Lopez-Kostner, F., Alvarez, K., Gluck, N., Katz, L., Heinimann, K., Vaccaro, C. A., Nakken, S., Hovig, E., Green, K., Lalloo, F., Hill, J., Vasen, H. F. A., Perne, C., Buttner, R., Gorgens, H., Holinski-Feder, E., Morak, M., Holzapfel, S., Huneburg, R., Doeberitz, M. V. K., Loeffler, M., Rahner, N., Weitz, J., Steinke-Lange, V., Schmiegel, W., Vangala, D., Crosbie, E. J., Pineda, M., Navarro, M., Brunet, J., Moreira, L., Sanchez, A., Serra-Burriel, M., Mints, M., Kariv, R., Rosner, G., Pinero, T. A., Pavicic, W. H., Kalfayan, P., Ten Broeke, S. W., Mecklin, J. -P., Pylvanainen, K., Renkonen-Sinisalo, L., Lepisto, A., Peltomaki, P., Hopper, J. L., Win, A. K., Buchanan, D. D., Lindor, N. M., Gallinger, S., Marchand, L. L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Therkildsen, C., Hansen, T. V. O., Lindberg, L., Rodland, E. A., Neffa, F., Esperon, P., Tjandra, D., Moslein, G., Seppala, T. T., Moller, P.
المصدر: Journal of Clinical Medicine, 10(13):2856. MDPI AG
Dipòsit Digital de la UB
Universidad de Barcelona
Journal of Clinical Medicine, Vol 10, Iss 2856, p 2856 (2021)
Dominguez-Valentin, M, Plazzer, J P, Sampson, J R, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Macrae, F, Winship, I M, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, de Vos tot Nederveen Cappel, W H, Sijmons, R H, Nielsen, M, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Lindblom, A, Della Valle, A, Lopez-Kostner, F, Alvarez, K, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Nakken, S, Hovig, E, Green, K, Lalloo, F, Hill, J, Vasen, H F A, Perne, C, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, Doeberitz, M V K, Loeffler, M, Rahner, N, Weitz, J, Steinke-Lange, V, Schmiegel, W, Vangala, D, Crosbie, E J, Pineda, M, Navarro, M, Brunet, J, Moreira, L, Sánchez, A, Serra-Burriel, M, Mints, M, Kariv, R, Rosner, G, Piñero, T A, Pavicic, W H, Kalfayan, P, Ten Broeke, S W, Mecklin, J P, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Hopper, J L, Win, A K, Buchanan, D D, Lindor, N M, Gallinger, S, Marchand, L L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Hansen, T V O, Lindberg, L, Rødland, E A, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Seppälä, T T & Møller, P 2021, ' No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in mlh1 and msh2 : A prospective lynch syndrome database study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Journal of Clinical Medicine
Dominguez-Valentin, M, Plazzer, J-P, Sampson, J R, Engel, C, Aretz, S, Jenkins, M A, Sunde, L, Bernstein, I, Capella, G, Balaguer, F, Macrae, F, Winship, I M, Thomas, H, Evans, D G, Burn, J, Greenblatt, M, de Vos Tot Nederveen Cappel, W H, Sijmons, R H, Nielsen, M, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Lindblom, A, Valle, A D, Lopez-Kostner, F, Alvarez, K, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Nakken, S, Hovig, E, Green, K, Lalloo, F, Hill, J, Vasen, H F A, Perne, C, Büttner, R, Görgens, H, Holinski-Feder, E, Morak, M, Holzapfel, S, Hüneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Weitz, J, Steinke-Lange, V, Schmiegel, W, Vangala, D, Crosbie, E J, Pineda, M, Navarro, M, Brunet, J, Moreira, L, Sánchez, A, Serra-Burriel, M, Mints, M, Kariv, R, Rosner, G, Piñero, T A, Pavicic, W H, Kalfayan, P, Broeke, S W T, Mecklin, J-P, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Peltomäki, P, Hopper, J L, Win, A K, Buchanan, D D, Lindor, N M, Gallinger, S, Marchand, L L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Hansen, T V O, Lindberg, L, Rødland, E A, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Seppälä, T T & Møller, P 2021, ' No Difference in Penetrance between Truncating and Missense/Aberrant Splicing Pathogenic Variants in MLH1 and MSH2 : A Prospective Lynch Syndrome Database Study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Evans, D G, Crosbie, E, Hill, J & et al. 2021, ' No difference in penetrance between truncating and missense/aberrant splicing pathogenic variants in MLH1 and MSH2: A Prospective Lynch Syndrome Database study ', Journal of Clinical Medicine, vol. 10, no. 13, 2856 . https://doi.org/10.3390/jcm10132856
Volume 10
Issue 13
Journal of Clinical Medicine, 10(13). MDPIمصطلحات موضوعية: cancer incidence, 0302 clinical medicine, Malalties hereditàries, Missense mutation, 8Q23.3, Càncer, Cancer, Genetics, 0303 health sciences, medicine.diagnostic_test, Factors de risc en les malalties, MISMATCH REPAIR GENES, MLH1, General Medicine, Penetrance, Lynch syndrome, 3. Good health, syöpägeenit, 030220 oncology & carcinogenesis, Medicine, syöpätaudit, ilmaantuvuus, Genetic diseases, congenital, hereditary, and neonatal diseases and abnormalities, missense, 11Q23.1, Risk factors in diseases, CANCER-RISK, Article, aberrant splicing, 03 medical and health sciences, AGE, medicine, Genetic predisposition, ddc:610, MSH2, Lynchin oireyhtymä, penetrance, 030304 developmental biology, Genetic testing, truncating, perinnölliset taudit, business.industry, MUTATIONS, HMSH2, nutritional and metabolic diseases, medicine.disease, digestive system diseases, 3121 General medicine, internal medicine and other clinical medicine, business
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المؤلفون: Seçil Aksoy, Michael O. Woods, Heinric Williams, Bruno Buecher, Finlay A. Macrae, Lotte N. Krogh, Jay Qiu, Wan K.W. Juhari, Jan T. Lowery, Anne-Marie Gerdes, Magnus von Knebel Doeberitz, Luigi Ricciardiello, Karsten Schulmann, Jose Luis Soto, Kristina Lagerstedt-Robinson, Kiwamu Akagi, Raj Ramesar, Uffe Birk Jensen, Angel Alonso, Robert Hüneburg, Olivier Caron, Michel Longy, Jan Lubinski, Kate Green, Annabel Goodwin, D. Gareth Evans, Julie Wods, Leigha Senter, Matthew F. Kalady, Mark Clendenning, Barbara A. Leggett, Ravindran Ankathil, Swati G. Patel, Julian Barwell, Katherine M. Tucker, Grant Lee, Pascaline Berthet, Dawn M. Nixon, Sonia S. Kupfer, Naohiro Tomita, Susan Parry, Trinidad Caldés, Robert W. Haile, Edenir Inêz Palmero, Karin Alvarez, Cassandra B. Nichols, Mark A. Jenkins, N. Jewel Samadder, Loic LeMarchand, John Burn, Francisco Lopez, Rodney J. Scott, Pierre Laurent-Puig, Julie Arnold, Christina Therkildsen, Hans K. Schackert, Pilar Garre, Reinhard Buettner, Adriana Della Valle, Patricia Esperon, Wolff Schmiegel, Karl Heinimann, Inge Bernstein, Matthias Kloor, Nicoline Hoogerbrugge, Rui Manuel Reis, Fränzel J.B. Van Duijnhoven, Christoph Engel, Mohd Nizam Zahary, Sylviane Olschwang, Sapna Syngal, Valérie Bonadona, Nicholas Pachter, Matilde Navarro, Albert de la Chapelle, Beate Betz, Jukka-Pekka Mecklin, Catherine Noguès, Elena M. Stoffel, Toni T. Seppälä, Chrystelle Colas, Anneke Lucassen, Allan D. Spigelman, Youenn Drouet, Elisa J. Cops, Uri Ladabaum, Steve Thibodeau, Jeffrey N. Weitzel, Fiona Lalloo, Patrick J. Morrison, Maurizio Genuardi, Kohji Tanakaya, Patrick M. Lynch, Frederik J. Hes, William D. Foulkes, Carmen Guillén-Ponce, Jenny von Salomé, Emilia Rogoża-Janiszewska, Andrew Latchford, John L. Hopper, Carrie Snyder, Verónica Barca-Tierno, Gabriela Möslein, Lauren M. Gima, Melissa C. Southey, Paul A. James, Marion Dhooge, Claudia Perne, Steven Gallinger, Heather Hampel, Amanda B. Spurdle, Ingrid Winship, Emmanuelle Fourme, Rish K. Pai, Daniela Turchetti, Marta Pineda, Jürgen Weitz, James Hill, Daniel D. Buchanan, Carlos A. Vaccaro, Noralane M. Lindor, Rachel Pearlman, Pål Møller, Christian P. Strassburg, Jane C. Figueiredo, Aída Falcón de Vargas, Silke Zachariae, Karolin Bucksch, Joanne Ngeow, Silke Redler, Henrik Okkels, Maija R.J. Kohonen-Corish, Hans F. A. Vasen, Verena Steinke-Lange, Roselyne Guimbaud, Deepak Vangala, Isabelle Coupier, Nils Rahner, Berrin Tunca, Sanne W. Bajwa-ten Broeke, Niels de Wind, Sophie Lejeune, José Gaston Guillem, Karin Wadt, Polly A. Newcomb, Elke Holinski-Feder, Florencia Neffa, Rodrigo Santa Cruz Guindalini, Paul E. Wise, Julian R. Sampson, Graham Casey, Lene Juel Rasmussen, Rolf H. Sijmons, Tadeusz Dębniak, Ann-Sofie Backman, Joji Utsunomiya, Melyssa Aronson, Aung Ko Win, Yves-Jean Bignon, Judy W. C. Ho, Robyn L. Ward, Mev Dominguez-Valentin, Karolina Malińska, Elizabeth E. Half, John-Paul Plazzer, Marjolijn J. L. Ligtenberg, Rachel Austin, Nicola K. Poplawski, Marcia Cruz-Correa, Nagahide Matsubara, Charlotte Kvist Lautrup, Thomas Hansen, Tatsuro Yamaguchi, Thomas John, David J. Amor, Ilana Solomon, Yun-Hee Choi, Meghan J. van Wanzeele, Rakefet Shtoyerman, Vanessa Huntley, Maartje Nielsen, Deborah Neklason, Kevin J. Monahan, Gülçin Tezcan, Stefan Aretz, Talya Boisjoli, Sophie Giraud, Thierry Frebourg, Christophe Rosty, Heike Görgens, Lone Sunde, Allyson Templeton, Jacob Nattermann, Mala Pande, Joan Brunet, Nancy Uhrhammer, James M. Church, Florencia Spirandelli, Laurent Briollais, James G. Dowty, Jeanette C. Reece, Rachel Susman, Fay Kastrinos, Kirsi Pylvänäinen, Gabriel Capellá, Helène Schuster, Min H. Chew, Markus Loeffler, Christine Lasset, Michael J. Hall, Capuccine Delnatte, Floor A. Duijkers
المساهمون: Imagerie Moléculaire et Stratégies Théranostiques (IMoST), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Clermont Auvergne (UCA), Centre Jean Perrin [Clermont-Ferrand] (UNICANCER/CJP), UNICANCER, Digital Precision Cancer Medicine (iCAN), ATG - Applied Tumor Genomics, HUS Abdominal Center, Clinical sciences, Medical Genetics, Win A.K., Dowty J.G., Reece J.C., Lee G., Templeton A.S., Plazzer J.-P., Buchanan D.D., Akagi K., Aksoy S., Alonso A., Alvarez K., Amor D.J., Ankathil R., Aretz S., Arnold J.L., Aronson M., Austin R., Backman A.-S., Bajwa-ten Broeke S.W., Barca-Tierno V., Barwell J., Bernstein I., Berthet P., Betz B., Bignon Y.-J., Boisjoli T., Bonadona V., Briollais L., Brunet J., Bucksch K., Buecher B., Buettner R., Burn J., Caldes T., Capella G., Caron O., Casey G., Chew M.H., Choi Y.-H., Church J., Clendenning M., Colas C., Cops E.J., Coupier I., Cruz-Correa M., de la Chapelle A., de Wind N., Debniak T., Della Valle A., Delnatte C., Dhooge M., Dominguez-Valentin M., Drouet Y., Duijkers F.A., Engel C., Esperon P., Evans D.G., Falcon de Vargas A., Figueiredo J.C., Foulkes W., Fourme E., Frebourg T., Gallinger S., Garre P., Genuardi M., Gerdes A.-M., Gima L.M., Giraud S., Goodwin A., Gorgens H., Green K., Guillem J., Guillen-Ponce C., Guimbaud R., Guindalini R.S.C., Half E.E., Hall M.J., Hampel H., Hansen T.V.O., Heinimann K., Hes F.J., Hill J., Ho J.W.C., Holinski-Feder E., Hoogerbrugge N., Huneburg R., Huntley V., James P.A., Jensen U.B., John T., Juhari W.K.W., Kalady M., Kastrinos F., Kloor M., Kohonen-Corish M.R., Krogh L.N., Kupfer S.S., Ladabaum U., Lagerstedt-Robinson K., Lalloo F., Lasset C., Latchford A., Laurent-Puig P., Lautrup C.K., Leggett B.A., Lejeune S., LeMarchand L., Ligtenberg M., Lindor N., Loeffler M., Longy M., Lopez F., Lowery J., Lubinski J., Lucassen A.M., Lynch P.M., Malinska K., Matsubara N., Mecklin J.-P., Moller P., Monahan K., Morrison P.J., Nattermann J., Navarro M., Neffa F., Neklason D., Newcomb P.A., Ngeow J., Nichols C., Nielsen M., Nixon D.M., Nogues C., Okkels H., Olschwang S., Pachter N., Pai R.K., Palmero E.I., Pande M., Parry S., Patel S.G., Pearlman R., Perne C., Pineda M., Poplawski N.K., Pylvanainen K., Qiu J., Rahner N., Ramesar R., Rasmussen L.J., Redler S., Reis R.M., Ricciardiello L., Rogoza-Janiszewska E., Rosty C., Samadder N.J., Sampson J.R., Schackert H.K., Schmiegel W., Schulmann K., Schuster H., Scott R., Senter L., Seppala T.T., Shtoyerman R., Sijmons R.H., Snyder C., Solomon I.B., Soto J.L., Southey M.C., Spigelman A., Spirandelli F., Spurdle A.B., Steinke-Lange V., Stoffel E.M., Strassburg C.P., Sunde L., Susman R., Syngal S., Tanakaya K., Tezcan G., Therkildsen C., Thibodeau S., Tomita N., Tucker K.M., Tunca B., Turchetti D., Uhrhammer N., Utsunomiya J., Vaccaro C., van Duijnhoven F.J.B., van Wanzeele M.J., Vangala D.B., Vasen H.F.A., von Knebel Doeberitz M., von Salome J., Wadt K.A.W., Ward R.L., Weitz J., Weitzel J.N., Williams H., Winship I., Wise P.E., Wods J., Woods M.O., Yamaguchi T., Zachariae S., Zahary M.N., Hopper J.L., Haile R.W., Macrae F.A., Moslein G., Jenkins M.A.
المصدر: The Lancet Oncology, 22(7), 1014-1022. ELSEVIER SCIENCE INC
International Mismatch Repair Consortium, Sunde, L E M, Lautrup, C K, Okkels, H & Bernstein, I 2021, ' Variation in the risk of colorectal cancer in families with Lynch syndrome : a retrospective cohort study ', The Lancet. Oncology, vol. 22, no. 7, pp. 1014-1022 . https://doi.org/10.1016/S1470-2045(21)00189-3
The International Mismatch Repair Consortium 2021, ' Variation in the risk of colorectal cancer in families with Lynch syndrome: a retrospective cohort study ', The Lancet Oncology, vol. 22, no. 7, pp. 1014-1022 . https://doi.org/10.1016/S1470-2045(21)00189-3
Lancet Oncology
Lancet Oncology, Elsevier, 2021, 22 (7), pp.1014-1022. ⟨10.1016/S1470-2045(21)00189-3⟩
The International Mismatch Repair Consortium 2021, ' Variation in the risk of colorectal cancer in families with Lynch syndrome : a retrospective cohort study ', The Lancet Oncology, vol. 22, no. 7, pp. 1014-1022 . https://doi.org/10.1016/S1470-2045(21)00189-3
Lancet Oncology, 22, 7, pp. 1014-1022
Lancet Oncology, 22, 1014-1022مصطلحات موضوعية: 0301 basic medicine, Proband, Oncology, Male, Heredity, DNA mismatch repair, [SDV]Life Sciences [q-bio], SUSCEPTIBILITY, Settore MED/03 - GENETICA MEDICA, 0302 clinical medicine, Residence Characteristics, Risk Factors, Tumours of the digestive tract Radboud Institute for Molecular Life Sciences [Radboudumc 14], PMS2, ComputingMilieux_MISCELLANEOUS, MLH1, Age Factors, Middle Aged, Penetrance, Lynch syndrome, 3. Good health, Pedigree, Phenotype, 030220 oncology & carcinogenesis, Colorectal Neoplasms, Hereditary Nonpolyposis/diagnosis, Female, Adult, medicine.medical_specialty, PENETRANCE, congenital, hereditary, and neonatal diseases and abnormalities, GENES, 3122 Cancers, colorectal cancer, BREAST, Risk Assessment, 03 medical and health sciences, Sex Factors, Internal medicine, medicine, Humans, Genetic Predisposition to Disease, Retrospective Studies, business.industry, MUTATIONS, Cancer, medicine.disease, digestive system diseases, MSH2, MSH6, MODEL, INDIVIDUALS, 030104 developmental biology, Lynch Syndrome, Gene-Environment Interaction, business
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المؤلفون: Einar Andreas Rødland, Joan B. Vida, Heike Görgens, Eivind Hovig, Kirsi Pylvänäinen, Monika Morak, Wouter H. de Vos tot Nederveen Cappel, Lone Sunde, Mark A. Jenkins, Lucio Bertario, Patricia Esperon, Reinhard Büttner, Finlay A. Macrae, Inge Bernstein, Marc S. Greenblatt, Wolff Schmiegel, Giulia Martina Cavestro, Maria Grazia Tibiletti, Silke Redler, Zohreh Ketabi, Karl Heinimann, Fiona Lalloo, Huw Thomas, Christina Therkildsen, Deepak Vangala, Magnus von Knebel Doeberitz, Matilde Navarro, Erik Rokkones, Douglas Tjandra, D. G. Evans, Marta Pineda, Marian J.E. Mourits, Lior H. Katz, Bernardo Bonanni, Pablo Kalfayan, Stephen N. Thibodeau, Loic Le Marchand, Revital Kariv, Maartje Nielsen, Emma J Crosbie, Oliver G. Denton, Stefanie Holzapfel, Guy Rosner, Mev Dominguez-Valentin, John Burn, Verena Steinke-Lange, Carlos A. Vaccaro, Gabriela Möslein, Elke Holinski-Feder, Gabriel Capellá, Johanna Tecklenburg, Karin Wadt, Kate Green, Christoph Engel, Miriam Mints, Anna Lepistö, Tamara Alejandra Piñero, Jukka-Pekka Mecklin, John L. Hopper, Robert Hüneburg, Markus Loeffler, Florencia Neffa, Toni T. Seppälä, Claudia Perne, Polly A. Newcomb, Karin Alvarez, Adriana Della Valle, Julian R. Sampson, Sanne W. ten Broeke, Francisco Lopez-Koestner, John-Paul Plazzer, James Hill, Hans Georg Strauß, Ingrid Winship, Nathan Gluck, Aung Ko Win, Jane C. Figueiredo, Jürgen Weitz, Hans F. A. Vasen, Rolf H. Sijmons, Walter Hernán Pavicic, Stefan Aretz, Steven Gallinger, Noralane M. Lindor, Pål Møller, Laura Renkonen-Sinisalo
المساهمون: Guided Treatment in Optimal Selected Cancer Patients (GUTS), Damage and Repair in Cancer Development and Cancer Treatment (DARE), Targeted Gynaecologic Oncology (TARGON), Seppala, T. T., Dominguez-Valentin, M., Crosbie, E. J., Engel, C., Aretz, S., Macrae, F., Winship, I., Capella, G., Thomas, H., Hovig, E., Nielsen, M., Sijmons, R. H., Bertario, L., Bonanni, B., Tibiletti, M. G., Cavestro, G. M., Mints, M., Gluck, N., Katz, L., Heinimann, K., Vaccaro, C. A., Green, K., Lalloo, F., Hill, J., Schmiegel, W., Vangala, D., Perne, C., Strauss, H. -G., Tecklenburg, J., Holinski-Feder, E., Steinke-Lange, V., Mecklin, J. -P., Plazzer, J. -P., Pineda, M., Navarro, M., Vida, J. B., Kariv, R., Rosner, G., Pinero, T. A., Pavicic, W., Kalfayan, P., ten Broeke, S. W., Jenkins, M. A., Sunde, L., Bernstein, I., Burn, J., Greenblatt, M., de Vos tot Nederveen Cappel, W. H., Della Valle, A., Lopez-Koestner, F., Alvarez, K., Buttner, R., Gorgens, H., Morak, M., Holzapfel, S., Huneburg, R., von Knebel Doeberitz, M., Loeffler, M., Redler, S., Weitz, J., Pylvanainen, K., Renkonen-Sinisalo, L., Lepisto, A., Hopper, J. L., Win, A. K., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Therkildsen, C., Wadt, K. A. W., Mourits, M. J. E., Ketabi, Z., Denton, O. G., Rodland, E. A., Vasen, H., Neffa, F., Esperon, P., Tjandra, D., Moslein, G., Rokkones, E., Sampson, J. R., Evans, D. G., Moller, P., Genome-Scale Biology (GSB) Research Program, HUS Abdominal Center, Clinicum, II kirurgian klinikka, Department of Surgery, Doctoral Programme in Clinical Research
المصدر: Seppälä, T T, Dominguez-Valentin, M, Crosbie, E J, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Thomas, H, Hovig, E, Nielsen, M, Sijmons, R H, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Green, K, Lalloo, F, Hill, J, Schmiegel, W, Vangala, D, Perne, C, Strauß, H G, Tecklenburg, J, Holinski-Feder, E, Steinke-Lange, V, Mecklin, J P, Plazzer, J P, Pineda, M, Navarro, M, Vida, J B, Kariv, R, Rosner, G, Piñero, T A, Pavicic, W, Kalfayan, P, ten Broeke, S W, Jenkins, M A, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, de Vos tot Nederveen Cappel, W H, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Büttner, R, Görgens, H, Morak, M, Holzapfel, S, Hüneburg, R, von Knebel Doeberitz, M, Loeffler, M, Redler, S, Weitz, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Hopper, J L, Win, A K, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Wadt, K A W, Mourits, M J E, Ketabi, Z, Denton, O G, Rødland, E A, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Rokkones, E, Sampson, J R, Evans, D G & Møller, P 2021, ' Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ', European Journal of Cancer, vol. 148, pp. 124-133 . https://doi.org/10.1016/j.ejca.2021.02.022
European Journal of Cancer, 148, 124-133. ELSEVIER SCI LTD
Dipòsit Digital de la UB
Universidad de Barcelona
Seppälä, T T, Dominguez-Valentin, M, Crosbie, E J, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Hovig, E, Nielsen, M, Sijmons, R H, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Green, K, Lalloo, F, Hill, J, Schmiegel, W, Vangala, D, Perne, C, Strauß, H-G, Tecklenburg, J, Holinski-Feder, E, Steinke-Lange, V, Mecklin, J-P, Plazzer, J-P, Pineda, M, Navarro, M, Vida, J B, Kariv, R, Rosner, G, Piñero, T A, Pavicic, W, Kalfayan, P, Ten Broeke, S W, Jenkins, M A, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, de Vos Tot Nederveen Cappel, W H, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Büttner, R, Görgens, H, Morak, M, Holzapfel, S, Hüneburg, R, von Knebel Doeberitz, M, Loeffler, M, Redler, S, Weitz, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Hopper, J L, Win, A K, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Wadt, K A W, Mourits, M J E, Ketabi, Z, Denton, O G, Rødland, E A, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Rokkones, E, Sampson, J R, Evans, D G & Møller, P 2021, ' Uptake of hysterectomy and bilateral salpingo-oophorectomy in carriers of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ', European Journal of Cancer, vol. 148, pp. 124-133 . https://doi.org/10.1016/j.ejca.2021.02.022
European Journal of Cancerمصطلحات موضوعية: 0301 basic medicine, Cancer Research, Oophorectomy, Databases, Factual, Colorectal cancer, SURGERY, medicine.medical_treatment, Càncer d'ovari, computer.software_genre, DNA Mismatch Repair, 0302 clinical medicine, Endometrial cancer, munasarjasyöpä, Medicine, Prospective Studies, Colectomy, Salpingo-oophorectomy/methods, Database, Manchester Cancer Research Centre, COLON-CANCER, MLH1, WOMEN, Middle Aged, Prognosis, Lynch syndrome, 3. Good health, kohdunrungon syöpä, Oncology, COLECTOMY, 030220 oncology & carcinogenesis, Female, Biomarkers, Tumor/genetics, Adult, Heterozygote, Genital Neoplasms, Female, Salpingo-oophorectomy, Hysterectomy, 03 medical and health sciences, Genital Neoplasms, Female/prevention & control, Ovarian cancer, Colorectal Neoplasms, Hereditary Nonpolyposis/genetics, Biomarkers, Tumor, Mortalitat, Humans, Hysterectomy/methods, Mortality, Lynchin oireyhtymä, Risk-reducing surgery, Aged, business.industry, ResearchInstitutes_Networks_Beacons/mcrc, Cancer, MSH6, 3126 Surgery, anesthesiology, intensive care, radiology, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, MSH2, 030104 developmental biology, Cross-Sectional Studies, PMS2, Càncer d'endometri, Mutation, kohdunpoisto, business, computer, Follow-Up Studies
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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
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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54992fafa37b89d1887bd85898f2a787
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المؤلفون: Eivind Hovig, Bernardo Bonanni, Monika Morak, Mark A. Jenkins, Patricia Esperon, Toni T. Seppälä, Lone Sunde, Pablo Kalfayan, Gabriel Capellá, Inge Bernstein, Matilde Navarro, Marc S. Greenblatt, John Burn, Zohreh Ketabi, Johanna Tecklenburg, Francisco Lopez-Koestner, Miriam Mints, Heike Görgens, Neil A J Ryan, Kate Green, Annika Auranen, Douglas Tjandra, Robert W. Haile, Marta Pineda, Tamara Alejandra Piñero, Stefan Aretz, Robert Hüneburg, Verena Steinke-Lange, Markus Loeffler, Christina Therkildsen, John L. Hopper, Deepak Vangala, Huw Thomas, Reinhard Büttner, James Hill, Einar Andreas Rødland, Revital Kariv, Maria Grazia Tibiletti, Sigve Nakken, Stefanie Holzapfel, D. Gareth Evans, Oliver G. Denton, Julian R. Sampson, Henrik Okkels, Joan Vidal, Loic Le Marchand, Hans Georg Strauß, Gabriela Möslein, Claudia Perne, Ingrid Winship, Nathan Gluck, Jane C. Figueiredo, Mev Dominguez-Valentin, Wolff Schmiegel, Karl Heinimann, Kirsi Pylvänäinen, Karin Alvarez, Maartje Nielsen, Wouter H. de Vos tot Nederveen Cappel, Fiona Lalloo, Aung Ko Win, Guy Rosner, Carlos A. Vaccaro, Polly A. Newcomb, Elke Holinski-Feder, John-Paul Plazzer, Lior H. Katz, Christoph Engel, Anna Lepistö, Jukka-Pekka Mecklin, Giulia Martina Cavestro, Adriana Della Valle, Finlay A. Macrae, Sanne W. ten Broeke, Florencia Neffa, Rolf H. Sijmons, María Laura Gonzalez, Nils Rahner, Jürgen Weitz, Hans F. A. Vasen, Stephen N. Thibodeau, Emma J Crosbie, Lucio Bertario, Steven Gallinger, Noralane M. Lindor, Pål Møller, Laura Renkonen-Sinisalo, Magnus von Knebel Doeberitz
المساهمون: Dominguez-Valentin, M., Crosbie, E. J., Engel, C., Aretz, S., Macrae, F., Winship, I., Capella, G., Thomas, H., Nakken, S., Hovig, E., Nielsen, M., Sijmons, R. H., Bertario, L., Bonanni, B., Tibiletti, M. G., Cavestro, G. M., Mints, M., Gluck, N., Katz, L., Heinimann, K., Vaccaro, C. A., Green, K., Lalloo, F., Hill, J., Schmiegel, W., Vangala, D., Perne, C., Strauss, H. -G., Tecklenburg, J., Holinski-Feder, E., Steinke-Lange, V., Mecklin, J. -P., Plazzer, J. -P., Pineda, M., Navarro, M., Vidal, J. B., Kariv, R., Rosner, G., Pinero, T. A., Gonzalez, M. L., Kalfayan, P., Ryan, N., ten Broeke, S. W., Jenkins, M. A., Sunde, L., Bernstein, I., Burn, J., Greenblatt, M., de Vos tot Nederveen Cappel, W. H., Della Valle, A., Lopez-Koestner, F., Alvarez, K., Buttner, R., Gorgens, H., Morak, M., Holzapfel, S., Huneburg, R., von Knebel Doeberitz, M., Loeffler, M., Rahner, N., Weitz, J., Pylvanainen, K., Renkonen-Sinisalo, L., Lepisto, A., Auranen, A., Hopper, J. L., Win, A. K., Haile, R. W., Lindor, N. M., Gallinger, S., Le Marchand, L., Newcomb, P. A., Figueiredo, J. C., Thibodeau, S. N., Therkildsen, C., Okkels, H., Ketabi, Z., Denton, O. G., Rodland, E. A., Vasen, H., Neffa, F., Esperon, P., Tjandra, D., Moslein, G., Sampson, J. R., Evans, D. G., Seppala, T. T., Moller, P., ATG - Applied Tumor Genomics, HUS Abdominal Center, II kirurgian klinikka, Department of Surgery, Clinicum, Helsinki University Hospital Area, University of Helsinki
المصدر: Genetics in Medicine, 23(4), 705-712. Nature Publishing Group
Dominguez-Valentin, M, Crosbie, E J, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Thomas, H, Nakken, S, Hovig, E, Nielsen, M, Sijmons, R H, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Green, K, Lalloo, F, Hill, J, Schmiegel, W, Vangala, D, Perne, C, Strauss, H-G, Tecklenburg, J, Holinski-Feder, E, Steinke-Lange, V, Mecklin, J-P, Plazzer, J-P, Pineda, M, Navarro, M, Brunet Vidal, J, Kariv, R, Rosner, G, Alejandra Pinero, T, Laura Gonzalez, M, Kalfayan, P, Ryan, N, Ten Broeke, S W, Jenkins, M A, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, Cappel, W H D V T N, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Buettner, R, Goergens, H, Morak, M, Holzapfel, S, Hueneburg, R, Doeberitz, M V K, Loeffler, M, Rahner, N, Weitz, J, Pylvanainen, K, Renkonen-Sinisalo, L, Lepisto, A, Auranen, A, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Okkels, H, Ketabi, Z, Denton, O G, Rodland, E A, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Moeslein, G, Sampson, J R, Evans, D G, Seppala, T T & Moller, P 2021, ' Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ', Genetics in Medicine, vol. 23, no. 4, pp. 705-712 . https://doi.org/10.1038/s41436-020-01029-1
Dominguez-Valentin, M, Crosbie, E J, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Thomas, H, Nakken, S, Hovig, E, Nielsen, M, Sijmons, R H, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Green, K, Lalloo, F, Hill, J, Schmiegel, W, Vangala, D, Perne, C, Strauß, H G, Tecklenburg, J, Holinski-Feder, E, Steinke-Lange, V, Mecklin, J P, Plazzer, J P, Pineda, M, Navarro, M, Vidal, J B, Kariv, R, Rosner, G, Piñero, T A, Gonzalez, M L, Kalfayan, P, Ryan, N, ten Broeke, S W, Jenkins, M A, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, de Vos tot Nederveen Cappel, W H, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Büttner, R, Görgens, H, Morak, M, Holzapfel, S, Hüneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Weitz, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Auranen, A, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Okkels, H, Ketabi, Z, Denton, O G, Rødland, E A, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Sampson, J R, Evans, D G, Seppälä, T T & Møller, P 2021, ' Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ', Genetics in Medicine, vol. 23, no. 4, pp. 705–712 . https://doi.org/10.1038/s41436-020-01029-1
Genetics in Medicine, 23(4), 705-712. SPRINGERNATURE
Dominguez-Valentin, M, Crosbie, E J, Engel, C, Aretz, S, Macrae, F, Winship, I, Capella, G, Nakken, S, Hovig, E, Nielsen, M, Sijmons, R H, Bertario, L, Bonanni, B, Tibiletti, M G, Cavestro, G M, Mints, M, Gluck, N, Katz, L, Heinimann, K, Vaccaro, C A, Green, K, Lalloo, F, Hill, J, Schmiegel, W, Vangala, D, Perne, C, Strauß, H-G, Tecklenburg, J, Holinski-Feder, E, Steinke-Lange, V, Mecklin, J-P, Plazzer, J-P, Pineda, M, Navarro, M, Vidal, J B, Kariv, R, Rosner, G, Piñero, T A, Kalfayan, P, Ryan, N, Ten Broeke, S W, Jenkins, M A, Sunde, L, Bernstein, I, Burn, J, Greenblatt, M, de Vos Tot Nederveen Cappel, W H, Della Valle, A, Lopez-Koestner, F, Alvarez, K, Büttner, R, Görgens, H, Morak, M, Holzapfel, S, Hüneburg, R, von Knebel Doeberitz, M, Loeffler, M, Rahner, N, Weitz, J, Pylvänäinen, K, Renkonen-Sinisalo, L, Lepistö, A, Auranen, A, Hopper, J L, Win, A K, Haile, R W, Lindor, N M, Gallinger, S, Le Marchand, L, Newcomb, P A, Figueiredo, J C, Thibodeau, S N, Therkildsen, C, Okkels, H, Ketabi, Z, Denton, O G, Rødland, E A, Vasen, H, Neffa, F, Esperon, P, Tjandra, D, Möslein, G, Sampson, J R, Evans, D G, Seppälä, T T & Møller, P 2020, ' Risk-reducing hysterectomy and bilateral salpingo-oophorectomy in female heterozygotes of pathogenic mismatch repair variants : a Prospective Lynch Syndrome Database report ', Genetics in medicine : official journal of the American College of Medical Genetics . https://doi.org/10.1038/s41436-020-01029-1
Genetics in Medicineمصطلحات موضوعية: 0301 basic medicine, medicine.medical_treatment, DNA Mismatch Repair, Gynecologic surgery, 0302 clinical medicine, Malalties hereditàries, Prospective Studies, Prospective cohort study, Genetics (clinical), Mismatch Repair Endonuclease PMS2, Incidence (epidemiology), Middle Aged, 16. Peace & justice, Lynch syndrome, 3. Good health, 030220 oncology & carcinogenesis, Female, syöpätaudit, MutL Protein Homolog 1, Genetic diseases, Heterozygote, medicine.medical_specialty, Salpingo-oophorectomy, Cirurgia ginecològica, Hysterectomy, Article, 03 medical and health sciences, Càncer colorectal, CAPP2, medicine, Humans, Lynchin oireyhtymä, Gynecology, perinnölliset taudit, HEREDITARY COLORECTAL-CANCER, business.industry, Endometrial cancer, Cancer, medicine.disease, Colorectal Neoplasms, Hereditary Nonpolyposis, Colorectal cancer, ASPIRIN, 030104 developmental biology, Clinical research, 3121 General medicine, internal medicine and other clinical medicine, kohdunpoisto, 3111 Biomedicine, Ovarian cancer, business
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المؤلفون: Pascal Guénel, John J. Spinelli, Hoda Anton-Culver, Veli-Matti Kosma, Beth Y. Karlan, Antonis C. Antoniou, Brian D. Carter, Drakoulis Yannoukakos, Orland Diez, Montserrat Garcia-Closas, Uffe Birk Jensen, Susan M. Gapstur, Christine L. Clarke, Florentia Fostira, Trinidad Caldés, Wei Zheng, Diana Eccles, Don M. Conroy, Kristan J. Aronson, Sara Margolin, Thomas U. Ahearn, Hedy S. Rennert, Evgeny N. Imyanitov, Rulla M. Tamimi, Mary Beth Terry, Jenny Chang-Claude, Per Hall, Daniel R. Barnes, Alex Teulé, D. Gareth Evans, Åke Borg, Frans B. L. Hogervorst, Yon-Dschun Ko, Celine M. Vachon, Graham G. Giles, Simona Agata, Gad Rennert, Yuan Chun Ding, J. Margriet Collée, Alison M. Dunning, Regina M. Santella, Banu Arun, William J. Tapper, Melissa C. Southey, Finn Cilius Nielsen, Michael T. Parsons, Marjanka K. Schmidt, Alfons Meindl, Vassilios Georgoulias, Simon A. Gayther, Debra Frost, Noura Mebirouk, Hebon Investigators, Austin Miller, Sue K. Park, Anthony J Swerdlow, Emmanouil Saloustros, Isabel dos-Santos-Silva, Laura Ottini, Jack A. Taylor, Siranoush Manoukian, Maria A. Caligo, Douglas F. Easton, Christoph Engel, Antoinette Hollestelle, Ana Vega, Muriel A. Adank, Mia M. Gaudet, Heko Becher, Lothar Haeberle, Priyanka Sharma, Katherine L. Nathanson, Mads Thomassen, Miriam Dwek, Manuela Gago-Dominguez, Hiltrud Brauch, Kamila Czene, Peter A. Fasching, Peter J. Hulick, David E. Goldgar, Lesley McGuffog, Anna Jakubowska, Paul D.P. Pharoah, Adrià López-Fernández, Bruce Poppe, Volker Arndt, Georgia Chenevix-Trench, Tjoung-Won Park-Simon, Jennifer Stone, Wendy K. Chung, Joseph Vijai, Qin Wang, Penny Soucy, Miquel Angel Pujana, Diether Lambrechts, Vanesa García-Barberán, Andrea Gehrig, Anna González-Neira, Thérèse Truong, Jenny Lester, Wei He, Dale P. Sandler, Rita K. Schmutzler, Julian Peto, A. Heather Eliassen, Paolo Radice, Yael Laitman, Johanna Rantala, Kelly-Anne Phillips, Amanda E. Toland, Bernardo Bonanni, Muhammad Usman Rashid, Heli Nevanlinna, John L. Hopper, Kevin Punie, kConFab Investigators, Thilo Dörk, Judy Garber, Alison H. Trainer, Irene L. Andrulis, Jeffrey N. Weitzel, Michael Jones, Caroline Baynes, David J. Hunter, Mark S. Goldberg, Kristiina Aittomäki, Barbara Burwinkel, Jonathan Beesley, Maria Rossing, Norbert Arnold, Kathleen Claes, Renske Keeman, Esther M. John, John W.M. Martens, Katie M. O'Brien, Paolo Peterlongo, Mark H. Greene, Tracy A. O'Mara, Saundra S. Buys, Craig Luccarini, Atocha Romero, Paul A. James, Siddhartha Yadav, Zoe Steinsnyder, Diana Torres, Rudolf Kaaks, Camilla Wendt, Fabienne Lesueur, Ana Osorio, Olufunmilayo I. Olopade, Christopher A. Haiman, Agnes Jager, Tricia Lindstrom, Peter Devilee, Kristin K. Zorn, Loic Le Marchand, Darling J. Horcasitas, Michael Lush, Mark E. Robson, Jennifer T. Loud, Roger L. Milne, Lin Fritschi, Johanna I. Kiiski, Eric Hahnen, Jacques Simard, Annelie Augustinsson, Stig E. Bojesen, Kenneth Offit, Nadine Andrieu, Xiaohong R. Yang, Pooja Middha Kapoor, Joe Dennis, Beth N. Peshkin, Nadege Presneau, Darcy L. Thull, Fergus J. Couch, Gunnar Schmidt, Ute Hamann, Susan M. Domchek, Henrik Flyger, Mary B. Daly, Håkan Olsson, Clarice R. Weinberg, Niclas Håkansson, Elza Khusnutdinova, Inge Søkilde Pedersen, Manjeet K. Bolla, Steven N. Hart, Carl Blomqvist, Janet E. Olson, Maren T. Scheuner, Barbara Wappenschmidt, Marc Tischkowitz, Dominique Stoppa-Lyonnet, Nadine Tung, Stephen J. Chanock, Leslie Bernstein, Mikael Eriksson, José A. García-Sáenz, Jonathan Tyrer, Jose E. Castelao, Peter Kraft, Goska Leslie, Arto Mannermaa, Christopher G. Scott, Jacopo Azzollini, Eitan Friedman, Allison W. Kurian, Katarzyna Białkowska, Argyrios Ziogas, Hermann Brenner, Andrew K. Godwin, Patricia Harrington, Juliette Coignard, Daniele Campa, Susan L. Neuhausen, Marco Montagna, Marina Bermisheva, Alicja Wolk, Eric C. Polley, Abctb Investigators, Daniel Barrowdale
المصدر: Nature Communications
Nat Commun
Nature Communications, Vol 12, Iss 1, Pp 1-2 (2021)مصطلحات موضوعية: Adult, Genotype, media_common.quotation_subject, Science, Quantitative Trait Loci, General Physics and Astronomy, Breast Neoplasms, 02 engineering and technology, Brca1 brca2, Polymorphism, Single Nucleotide, General Biochemistry, Genetics and Molecular Biology, Linkage Disequilibrium, 03 medical and health sciences, Breast cancer, Cancer epidemiology, Humans, Genetic Predisposition to Disease, Author Correction, Cancer genetics, Alleles, 030304 developmental biology, media_common, BRCA2 Protein, 0303 health sciences, Multidisciplinary, BRCA1 Protein, Published Erratum, General Chemistry, Art, Middle Aged, 021001 nanoscience & nanotechnology, 3. Good health, Risk factors, Mutation, Female, 0210 nano-technology, Humanities, Genome-Wide Association Study
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