Zobrazeno 1 - 10
of 66
pro vyhledávání: '"David E. Goldgar"'
Autor:
Lauren R. Teras, Siddhartha Yadav, Amy Trentham-Dietz, Dale P. Sandler, James M. Hodge, Elena Ma Martínez, Fergus J. Couch, Jack A. Taylor, Katie M. O'Brien, Alpa V. Patel, Christopher A. Haiman, Chunling Hu, Mia M. Gaudet, David E. Goldgar, Paul W. Auer, James V. Lacey, Nicholas J. Boddicker, Sara Lindström, Celine M. Vachon, Susan L. Neuhausen, Irene M. Ong, Kimberly A. Bertrand, Leslie Bernstein, Loic Le Marchand, Eric C. Polley, Janet E. Olson, Hongyan Huang, Christine B. Ambrosone, Tina Pesaran, Susan M. Domchek, Amal Yussuf, Nicole L. Larson, Rohan Gnanaolivu, Brian D. Carter, Song Yao, Steven N. Hart, Holly LaDuca, Rachid Karam, Jie Na, Chi Gao, Katherine L. Nathanson, Peter Kraft, Elizabeth C. Chao, Huiyan Ma, Jeffrey N. Weitzel, Julie R. Palmer, Christopher E. Scott, Charles Kooperberg, Jill S. Dolinsky, David J. Hunter, Elizabeth S. Burnside
Publikováno v:
J Clin Oncol
PURPOSE The prevalence of germline pathogenic variants (PVs) in established breast cancer predisposition genes in women in the general population over age 65 years is not well-defined. However, testing guidelines suggest that women diagnosed with bre
Autor:
Kathleen A. Clark, Andrew Paquette, Kayoko Tao, Russell Bell, Julie L. Boyle, Judith Rosenthal, Angela K. Snow, Alex W. Stark, Bryony A. Thompson, Joshua Unger, Jason Gertz, Katherine E. Varley, Kenneth M. Boucher, David E. Goldgar, William D. Foulkes, Alun Thomas, Sean V. Tavtigian
Publikováno v:
Am J Hum Genet
BRCA1 is a high-risk susceptibility gene for breast and ovarian cancer. Pathogenic protein-truncating variants are scattered across the open reading frame, but all known missense substitutions that are pathogenic because of missense dysfunction are l
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e3184272acab0c197ca882915685e33
https://europepmc.org/articles/PMC9247830/
https://europepmc.org/articles/PMC9247830/
Autor:
Taciane B. Henriques, Iuly G. Ribeiro, Thales C. Nepomuceno, Marcy E. Richardson, Marcele L.M. de Souza, Géssica F. Machado, Mariana F. Veloso, Marcelo A. Carvalho, David E. Goldgar, Diandra Zipinotti dos Santos, Roberto S. Ribeiro, Alvaro N.A. Monteiro, Fergus J. Couch, Edwin S. Iversen, Paulo C Lyra, Leticia Batista Azevedo Rangel
Publikováno v:
Genetics in Medicine
Purpose BRCA1 pathogenic variant heterozygotes are at a substantially increased risk for breast and ovarian cancer. The widespread uptake of testing has led to a significant increase in the detection of missense variants in BRCA1, the vast majority o
Autor:
Shuai, Li, Valentina, Silvestri, Goska, Leslie, Timothy R, Rebbeck, Susan L, Neuhausen, John L, Hopper, Henriette Roed, Nielsen, Andrew, Lee, Xin, Yang, Lesley, McGuffog, Michael T, Parsons, Irene L, Andrulis, Norbert, Arnold, Muriel, Belotti, Åke, Borg, Bruno, Buecher, Saundra S, Buys, Sandrine M, Caputo, Wendy K, Chung, Chrystelle, Colas, Sarah V, Colonna, Jackie, Cook, Mary B, Daly, Miguel, de la Hoya, Antoine, de Pauw, Hélène, Delhomelle, Jacqueline, Eason, Christoph, Engel, D Gareth, Evans, Ulrike, Faust, Tanja N, Fehm, Florentia, Fostira, George, Fountzilas, Megan, Frone, Vanesa, Garcia-Barberan, Pilar, Garre, Marion, Gauthier-Villars, Andrea, Gehrig, Gord, Glendon, David E, Goldgar, Lisa, Golmard, Mark H, Greene, Eric, Hahnen, Ute, Hamann, Helen, Hanson, Tiara, Hassan, Julia, Hentschel, Judit, Horvath, Louise, Izatt, Ramunas, Janavicius, Yue, Jiao, Esther M, John, Beth Y, Karlan, Sung-Won, Kim, Irene, Konstantopoulou, Ava, Kwong, Anthony, Laugé, Jong Won, Lee, Fabienne, Lesueur, Noura, Mebirouk, Alfons, Meindl, Emmanuelle, Mouret-Fourme, Hannah, Musgrave, Joanne, Ngeow Yuen Yie, Dieter, Niederacher, Sue K, Park, Inge Sokilde, Pedersen, Juliane, Ramser, Susan J, Ramus, Johanna, Rantala, Muhammad U, Rashid, Florian, Reichl, Julia, Ritter, Andreas, Rump, Marta, Santamariña, Claire, Saule, Gunnar, Schmidt, Rita K, Schmutzler, Leigha, Senter, Saba, Shariff, Christian F, Singer, Melissa C, Southey, Dominique, Stoppa-Lyonnet, Christian, Sutter, Yen, Tan, Soo Hwang, Teo, Mary Beth, Terry, Mads, Thomassen, Marc, Tischkowitz, Amanda E, Toland, Diana, Torres, Ana, Vega, Sebastian A, Wagner, Shan, Wang-Gohrke, Barbara, Wappenschmidt, Bernhard H F, Weber, Drakoulis, Yannoukakos, Amanda B, Spurdle, Douglas F, Easton, Georgia, Chenevix-Trench, Laura, Ottini, Antonis C, Antoniou
Publikováno v:
Journal of clinical oncology : official journal of the American Society of Clinical Oncology. 40(14)
To provide precise age-specific risk estimates of cancers other than female breast and ovarian cancers associated with pathogenic variants (PVs) inWe used data from 3,184In addition to female breast and ovarian cancers
Autor:
Georgia Chenevix-Trench, Melissa C. Southey, Ramunas Janavicius, Abigail Thomas, Mads Thomassen, Ana Vega, Paul A. James, David E. Goldgar, Xin Yang, Marco Montagna, Charlotte Kvist Lautrup, Trinidad Caldés, Åke Borg, Henriette Roed Nielsen, Christi J. van Asperen, Amanda E. Toland, Diana Eccles, Siranoush Manoukian, Barbara Wappenschmidt, Angela R. Solano, Pål Møller, Tina Selkirk, John L. Hopper, Maria A. Caligo, Judy Kirk, Paolo Peterlongo, Susanne E. Boonen, Alberto Zambelli, Amanda B. Spurdle, Conxi Lázaro, Paolo Radice, Lone Kroeldrup, Fergus J. Couch, Irene L. Andrulis, Thomas Hansen, Ute Hamann, Esther M. John, Hongyan Li, Christoph Engel, Edenir Inêz Palmero, Sarah M. Nielsen, Mary Beth Terry, Judy Garber, Goska Leslie, Drakoulis Yannoukakos, Antonis C. Antoniou, Luca Livraghi, Ava Kwong, Inge Søkilde Pedersen, Miguel de la Hoya, Rita K. Schmutzler, Barbara Pasini, Michael T. Parsons, Mark H. Greene, Liliana Varesco, Lenka Foretova, Marc Tischkowitz, Susan M. Domchek, Heather Thorne, Anne-Marie Gerdes, Sandrine M. Caputo
Publikováno v:
Li, H, Engel, C, de la Hoya, M, Peterlongo, P, Yannoukakos, D, Livraghi, L, Radice, P, Thomassen, M, Hansen, T V O, Gerdes, A-M, Nielsen, H R, Caputo, S M, Zambelli, A, Borg, A, Solano, A, Thomas, A, Parsons, M T, Antoniou, A C, Leslie, G, Yang, X, Chenevix-Trench, G, Caldes, T, Kwong, A, Pedersen, I S, Lautrup, C K, John, E M, Terry, M B, Hopper, J L, Southey, M C, Andrulis, I L, Tischkowitz, M, Janavicius, R, Boonen, S E, Kroeldrup, L, Varesco, L, Hamann, U, Vega, A, Palmero, E I, Garber, J, Montagna, M, Van Asperen, C J, Foretova, L, Greene, M H, Selkirk, T, Moller, P, Toland, A E, Domchek, S M, James, P A, Thorne, H, Eccles, D M, Nielsen, S M, Manoukian, S, Pasini, B, Caligo, M A, Lazaro, C, Kirk, J, Wappenschmidt, B, Spurdle, A B, Couch, F J, Schmutzler, R, Goldgar, D E, ENIGMA consortium & CIMBA Consortium 2022, ' Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants ', Genetics in Medicine, vol. 24, no. 1, pp. 119-129 . https://doi.org/10.1016/j.gim.2021.08.016
Genet Med
Genetics in Medicine, 24(1), 119-129. ELSEVIER SCIENCE INC
ENIGMA Consortium 2022, ' Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants ', Genetics in Medicine, vol. 24, no. 1, pp. 119-129 . https://doi.org/10.1016/j.gim.2021.08.016
Goldgar, D E, ENIGMA Consortium & CIMBA Consortium 2022, ' Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants ', Genetics in Medicine, vol. 24, no. 1, pp. 119-129 . https://doi.org/10.1016/j.gim.2021.08.016
Genet Med
Genetics in Medicine, 24(1), 119-129. ELSEVIER SCIENCE INC
ENIGMA Consortium 2022, ' Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants ', Genetics in Medicine, vol. 24, no. 1, pp. 119-129 . https://doi.org/10.1016/j.gim.2021.08.016
Goldgar, D E, ENIGMA Consortium & CIMBA Consortium 2022, ' Risks of breast and ovarian cancer for women harboring pathogenic missense variants in BRCA1 and BRCA2 compared with those harboring protein truncating variants ', Genetics in Medicine, vol. 24, no. 1, pp. 119-129 . https://doi.org/10.1016/j.gim.2021.08.016
Purpose: Germline genetic testing for BRCA1 and BRCA2 variants has been a part of clinical practice for >2 decades. However, no studies have compared the cancer risks associated with missense pathogenic variants (PVs) with those associated with prote
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::79f6126a0e1d1c2a72db8b98d5832538
https://vbn.aau.dk/da/publications/8cc27e8f-140c-4597-aedf-06010614dc87
https://vbn.aau.dk/da/publications/8cc27e8f-140c-4597-aedf-06010614dc87
Autor:
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
Publikováno v:
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/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/djab147
Breast and prostate cancer risks; Pathogenic variant Riscos de càncer de mama i pròstata; Variants patogèniques Riesgos de cáncer de mama y próstata; Variantes patogénicas Background Recent population-based female breast cancer and prostate can
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4c81f6326649ecf1e3ace95b9e9e43d8
https://hdl.handle.net/11380/1280528
https://hdl.handle.net/11380/1280528
Autor:
Tina Pesaran, Elizabeth C. Chao, Jessica Profato, Holly LaDuca, Chia Ling Gau, Carolyn Horton, David E. Goldgar, Siddhartha Yadav, Jill S. Dolinsky, Jie Na, Lily Hoang, Melissa Pronold, Fergus J. Couch, Eric C. Polley, Chunling Hu, Brigette Tippin Davis, Laura Panos Smith, Stephanie Gutierrez, Amal Yussuf, Kelly Fulk, Steven N. Hart
Publikováno v:
Genetics in Medicine
Purpose Despite the rapid uptake of multigene panel testing (MGPT) for hereditary cancer predisposition, there is limited guidance surrounding indications for testing and genes to include. Methods To inform the clinical approach to hereditary cancer
Autor:
Ana Peixoto, Ian Tomlinson, Thérèse Truong, Amanda E. Toland, Anna Marie Mulligan, Michael Untch, Susan J. Ramus, Kenneth Offit, John J. Spinelli, Clarice R. Weinberg, Kyriaki Michailidou, Javier Benitez, Rita K. Schmutzler, Lizet E. van der Kolk, Heli Nevanlinna, Annika Lindblom, Sara Margolin, Stella Koutros, Elza Khusnutdinova, Diana Eccles, Lenka Foretova, Wolfgang Janni, Jennifer T. Loud, Roger L. Milne, Patrick Neven, Thomas U. Ahearn, Hedy S. Rennert, Karolina Prajzendanc, Melissa C. Southey, Ramunas Janavicius, Finn Cilius Nielsen, Pascal Guénel, Antoinette Hollestelle, Jolanta Lissowska, Ni Zhao, Melissa Christiaens, Hoda Anton-Culver, Ans M.W. van den Ouweland, Christopher A. Haiman, Debra Frost, Vessela N. Kristensen, Bernard Peissel, Muhammad Usman Rashid, Noura Mebirouk, Claudine Isaacs, Matthias W. Beckmann, Sofia Khan, Xia Jiang, Jack A. Taylor, Peter Hillemanns, Robert Winqvist, Susan L. Neuhausen, Marina Bermisheva, Alicja Wolk, Katherine L. Nathanson, Judy Garber, Siranoush Manoukian, Simon S. Cross, Flavio Lejbkowicz, Manjeet K. Bolla, Goska Leslie, Saundra S. Buys, Banu Arun, Xiaohong R. Yang, Peter Schürmann, Irene Konstantopoulou, Mia M. Gaudet, Rob A. E. M. Tollenaar, Joe Dennis, Louise Izatt, David E. Goldgar, Anna Jakubowska, Alicja Lukomska, Fabienne Lesueur, Susanna C. Larsson, Peter Devilee, Helen Byers, Bernd Holleczek, Marc Tischkowitz, Arif B. Ekici, Austin Miller, Carl Blomqvist, Christopher R. Hake, Paul D.P. Pharoah, Harvey A. Risch, Kristin K. Zorn, Mehdi Manoochehri, Kamila Czene, Peter A. Fasching, Trinidad Caldés, Hanna Huebner, Agnes Jager, William G. Newman, Lesley McGuffog, Maren T. Scheuner, Nick Orr, Susan M. Domchek, Antonis C. Antoniou, Peter Kraft, Pooja Middha Kapoor, Daniel R. Barnes, Christine L. Clarke, Douglas F. Easton, Bernadette A M Heemskerk-Gerritsen, Ross L. Prentice, Mark E. Sherman, Elizabeth J. van Rensburg, Michael Jones, Åke Borg, Diether Lambrechts, Mark H. Greene, Mark S. Goldberg, Peter J. Hulick, Maria Elena Martinez, Arto Mannermaa, Frans B. L. Hogervorst, Christian F. Singer, Johanna Rantala, Esther M. John, Jesse Nodora, Wendy K. Chung, Csilla Szabo, Mads Thomassen, Tracy A. O'Mara, Kelly-Anne Phillips, Manuela Gago-Dominguez, Jacques Simard, John L. Hopper, Jacopo Azzollini, Rudolf Kaaks, Haoyu Zhang, Eitan Friedman, Heiko Becher, János Papp, Thomas Rüdiger, Alison M. Dunning, Daniele Campa, Alfons Meindl, Lothar Häberle, Ana Blanco, Eric Hahnen, Barbara Wappenschmidt, Elaine F. Harkness, Audrey Y. Jung, Guanghao Qi, Zumuruda Abu Ful, Maria A. Caligo, Priyanka Sharma, Håkan Olsson, Elke M van Veen, Marion Piedmonte, Linetta B. Koppert, Usha Menon, Laura Matricardi, Jonine D. Figueroa, Wei Zheng, Milena Jakimovska, Katarzyna Białkowska, Renske Keeman, Matti A. Rookus, William J. Tapper, J. Peto, Paul L. Auer, Andreas Schneeweiss, Xiao-Ou Shu, Miriam Dwek, Elvira Mingazheva, Hermann Brenner, Emilija Lazarova, Atocha Romero, Rulla M. Tamimi, Laura Papi, Hans Wildiers, Catriona McLean, Montserrat Garcia-Closas, Matthias Rübner, Thomas Brüning, Graham G. Giles, Robert J. MacInnis, Hans Christiansen, Sten Cornelissen, Paul A. James, Georgia Chenevix-Trench, Tjoung-Won Park-Simon, Nilanjan Chatterjee, D. Gareth Evans, Ignacio Briceño, Mary B. Daly, Annegien Broeks, Evgeny N. Imyanitov, Jonathan Beesley, Snezhana Smichkoska, Thilo Dörk, Yon-Dschun Ko, Paolo Peterlongo, Celine M. Vachon, Claire Mulot, Kristiina Aittomäki, Liene Nikitina-Zake, Manuel R. Teixeira, Edith Olah, Florentia Fostira, Beth N. Peshkin, Pierre Laurent-Puig, M. B. Terry, Michael T. Parsons, Anna González-Neira, Julie Lecarpentier, Jacek Gronwald, Fergus J. Couch, Mariarosaria Calvello, Leigha Senter, Ute Hamann, Brigitte Rack, Marco Montagna, Simon A. Gayther, Barbara Burwinkel, Anne-Vibeke Lænkholm, Irene L. Andrulis, Sabine Behrens, Beth Y. Karlan, Anthony J. Swerdlow, Marjanka K. Schmidt, Cari M. Kitahara, Emmanouil Saloustros, Dijana Plaseska-Karanfilska, Melissa A. Troester, Diana Torres, Daniel Barrowdale, Elinor J. Sawyer, Hiltrud Brauch, Minouk J. Schoemaker, Dale P. Sandler, José A. García-Sáenz, Jennifer Stone, Qin Wang, Conxi Lázaro, Paolo Radice, Jan Lubinski, Jose E. Castelao, Natalia Bogdanova, Drakoulis Yannoukakos, Davide Bondavalli, Kristan J. Aronson, Gad Rennert, Wing-Yee Lo, Robert N. Hoover, Dominique Stoppa-Lyonnet, Nadine Tung, Stephen J. Chanock, Andrew K. Godwin, Angela Cox, Maartje J. Hooning, Anthony Howell, Volker Arndt, Penny Soucy, Jenny Chang-Claude, Kathleen Claes, Olufunmilayo I. Olopade, Jeffrey N. Weitzel, Stig E. Bojesen, Sara Y Brucker, Darcy L. Thull, Darya Prokofyeva, Taru A. Muranen, Ben Schöttker, Orland Diez, Susan M. Gapstur, Sarah Sampson, Bernardo Bonanni, Per Hall, Ana Vega
Publikováno v:
Dipòsit Digital de la UB
Universidad de Barcelona
Nature Genetics, 52(6), 572-581. Nature Publishing Group
Nature Genetics, 52(6), 572-581. NATURE RESEARCH
Zhang, H, Ahearn, T U, Lecarpentier, J, Barnes, D, Beesley, J, Qi, G, Jiang, X, O’Mara, T A, Zhao, N, Bolla, M K, Dunning, A M, Dennis, J, Wang, Q, Ful, Z A, Aittomäki, K, Andrulis, I L, Anton-Culver, H, Arndt, V, Aronson, K J, Arun, B K, Auer, P L, Azzollini, J, Barrowdale, D, Becher, H, Beckmann, M W, Behrens, S, Benitez, J, Bermisheva, M, Bialkowska, K, Blanco, A, Blomqvist, C, Bogdanova, N V, Bojesen, S E, Bonanni, B, Bondavalli, D, Borg, A, Brauch, H, Brenner, H, Briceno, I, Broeks, A, Brucker, S Y, Brüning, T, Burwinkel, B, Buys, S S, Byers, H, Caldés, T, Caligo, M A, Christiansen, H, Laenkholm, A V, Nielsen, F C, Thomassen, M, kConFab Investigators, ABCTB Investigators, EMBRACE Study & GEMO Study Collaborators 2020, ' Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses ', Nature Genetics, vol. 52, no. 6, pp. 572-581 . https://doi.org/10.1038/s41588-020-0609-2
2020, ' Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses ', Nature Genetics . https://doi.org/10.1038/s41588-020-0609-2
Nature Genetics
Universidad de Barcelona
Nature Genetics, 52(6), 572-581. Nature Publishing Group
Nature Genetics, 52(6), 572-581. NATURE RESEARCH
Zhang, H, Ahearn, T U, Lecarpentier, J, Barnes, D, Beesley, J, Qi, G, Jiang, X, O’Mara, T A, Zhao, N, Bolla, M K, Dunning, A M, Dennis, J, Wang, Q, Ful, Z A, Aittomäki, K, Andrulis, I L, Anton-Culver, H, Arndt, V, Aronson, K J, Arun, B K, Auer, P L, Azzollini, J, Barrowdale, D, Becher, H, Beckmann, M W, Behrens, S, Benitez, J, Bermisheva, M, Bialkowska, K, Blanco, A, Blomqvist, C, Bogdanova, N V, Bojesen, S E, Bonanni, B, Bondavalli, D, Borg, A, Brauch, H, Brenner, H, Briceno, I, Broeks, A, Brucker, S Y, Brüning, T, Burwinkel, B, Buys, S S, Byers, H, Caldés, T, Caligo, M A, Christiansen, H, Laenkholm, A V, Nielsen, F C, Thomassen, M, kConFab Investigators, ABCTB Investigators, EMBRACE Study & GEMO Study Collaborators 2020, ' Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses ', Nature Genetics, vol. 52, no. 6, pp. 572-581 . https://doi.org/10.1038/s41588-020-0609-2
2020, ' Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses ', Nature Genetics . https://doi.org/10.1038/s41588-020-0609-2
Nature Genetics
Genome-wide analysis identifies 32 loci associated with breast cancer susceptibility, accounting for estrogen receptor, progesterone receptor and human epidermal growth factor receptor 2 status and tumor grade. Breast cancer susceptibility variants f
Autor:
Lieske H. Schrijver, Antonis C. Antoniou, Håkan Olsson, Thea M. Mooij, Marie-José Roos-Blom, Leyla Azarang, Julian Adlard, Munaza Ahmed, Daniel Barrowdale, Rosemarie Davidson, Alan Donaldson, Ros Eeles, D. Gareth Evans, Debra Frost, Alex Henderson, Louise Izatt, Kai-Ren Ong, Valérie Bonadona, Isabelle Coupier, Laurence Faivre, Jean-Pierre Fricker, Paul Gesta, Klaartje van Engelen, Agnes Jager, Fred H. Menko, Marian J.E. Mourits, Christian F. Singer, Yen Y. Tan, Lenka Foretova, Marie Navratilova, Rita K. Schmutzler, Carolina Ellberg, Anne-Marie Gerdes, Trinidad Caldes, Jacques Simard, Edith Olah, Anna Jakubowska, Johanna Rantala, Ana Osorio, John L. Hopper, Kelly-Anne Phillips, Roger L. Milne, Mary Beth Terry, Catherine Noguès, Christoph Engel, Karin Kast, David E. Goldgar, Flora E. van Leeuwen, Douglas F. Easton, Nadine Andrieu, Matti A. Rookus, Lilian Laborde, Pauline Pontois, Emanuelle Breysse, Margot Berline, Dominique Stoppa-Lyonnet, Marion Gauthier-Villars, Bruno Buecher, Chrystelle Colas, Olivier Caron, Emmanuelle Mouret-Fourme, Claire Saule, Christine Lasset, Sophie Dussard, Pascaline Berthet, Elisabeth Luporsi, Véronique Mari, Laurence Gladieff, Stéphanie Chieze-Valéro, Jessica Moretta, Hagay Sobol, François Eisinger, Cornel Popovici, Michel Longy, Louise Grivelli, Florent Soubrier, Patrick Benusiglio, Pascal Pujol, Carole Corsini, Marie-Emmanuelle Morin-Meschin, Alain Lortholary, Claude Adenis, Audrey Maillez, Tan Dat Nguyen, Capucine Delnatte, Caroline Abadie, Julie Tinat, Isabelle Tennevet, Christine Maugard, Yves-Jean Bignon, Mathilde Gay Bellile, Clotilde Penet, Hélène Dreyfus, Odile Cohen-Haguenauer, Brigitte Gilbert, Laurence Venat-Bouvet, Dominique Leroux, Clémentine Legrand, Hélène Zattara-Cannoni, Valérie Layet, Elodie Lacaze, Sandra Fert-Ferrer, Odile Bera, Brigitte Gilbert-Dussardier, David Tougeron, Hakima Lallaoui, M.A. Rookus, F.B.L. Hogervorst, F.E. van Leeuwen, M.A. Adank, M.K. Schmidt, D.J. Jenner, J.M. Collée, A.M.W. van den Ouweland, M.J. Hooning, I.A. Boere, C.J. van Asperen, P. Devilee, R.B. van der Luijt, T.C.T.E.F. van Cronenburg, M.R. Wevers, A.R. Mensenkamp, M.G.E.M. Ausems, M.J. Koudijs, I. van de Beek, K. van Engelen, J.J.P. Gille, E.B. Gómez García, M.J. Blok, M. de Boer, L.P.V. Berger, A.H. van der Hout, M.J.E. Mourits, G.H. de Bock, S. Siesling, J. Verloop, E.C. van den Broek
Publikováno v:
American Journal of Obstetrics and Gynecology, 225(1), 51.e1-51.e17. MOSBY-ELSEVIER
Epidemiological Study of Familial Breast Cancer, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study 2021, ' Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers : an international cohort study ', American Journal of Obstetrics and Gynecology, vol. 225, no. 1, pp. 51.e1-51.e17 . https://doi.org/10.1016/j.ajog.2021.01.014
American Journal of Obstetrics and Gynecology, 225, 51.e1-51.e17
American Journal of Obstetrics and Gynecology, 225(1), 51.e1-51.e17. Mosby Inc.
American Journal of Obstetrics and Gynecology
American Journal of Obstetrics and Gynecology, 2021, 225 (1), pp.51.e1-51.e17. ⟨10.1016/j.ajog.2021.01.014⟩
American journal of obstetrics and gynecology, 225(1), 51.e1-51.e17. Mosby Inc.
Schrijver, L H, Antoniou, A C, Olsson, H, Mooij, T M, Roos-Blom, M J, Azarang, L, Adlard, J, Ahmed, M, Barrowdale, D, Davidson, R, Donaldson, A, Eeles, R, Evans, D G, Frost, D, Henderson, A, Izatt, L, Ong, K R, Bonadona, V, Coupier, I, Faivre, L, Fricker, J P, Gesta, P, van Engelen, K, Jager, A, Menko, F H, Mourits, M J E, Singer, C F, Tan, Y Y, Foretova, L, Navratilova, M, Schmutzler, R K, Ellberg, C, Gerdes, A M, Caldes, T, Simard, J, Olah, E, Jakubowska, A, Rantala, J, Osorio, A, Hopper, J L, Phillips, K A, Milne, R L, Beth Terry, M, Noguès, C, Engel, C, Kast, K, Goldgar, D E, van Leeuwen, F E, Easton, D F, Andrieu, N, Rookus, M A & Epidemiological Study of Familial Breast Cancer, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study 2021, ' Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers : an international cohort study ', American Journal of Obstetrics and Gynecology, vol. 225, no. 1, pp. 51.e1-51.e17 . https://doi.org/10.1016/j.ajog.2021.01.014
EMBRACE, GENEPSO, HEBON, IBCCS & et al. 2021, ' Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study ', American Journal of Obstetrics and Gynecology . https://doi.org/10.1016/j.ajog.2021.01.014
American Journal of Obstetrics and Gynecology, 225, 1, pp. 51.e1-51.e17
Epidemiological Study of Familial Breast Cancer, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study 2021, ' Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers : an international cohort study ', American Journal of Obstetrics and Gynecology, vol. 225, no. 1, pp. 51.e1-51.e17 . https://doi.org/10.1016/j.ajog.2021.01.014
American Journal of Obstetrics and Gynecology, 225, 51.e1-51.e17
American Journal of Obstetrics and Gynecology, 225(1), 51.e1-51.e17. Mosby Inc.
American Journal of Obstetrics and Gynecology
American Journal of Obstetrics and Gynecology, 2021, 225 (1), pp.51.e1-51.e17. ⟨10.1016/j.ajog.2021.01.014⟩
American journal of obstetrics and gynecology, 225(1), 51.e1-51.e17. Mosby Inc.
Schrijver, L H, Antoniou, A C, Olsson, H, Mooij, T M, Roos-Blom, M J, Azarang, L, Adlard, J, Ahmed, M, Barrowdale, D, Davidson, R, Donaldson, A, Eeles, R, Evans, D G, Frost, D, Henderson, A, Izatt, L, Ong, K R, Bonadona, V, Coupier, I, Faivre, L, Fricker, J P, Gesta, P, van Engelen, K, Jager, A, Menko, F H, Mourits, M J E, Singer, C F, Tan, Y Y, Foretova, L, Navratilova, M, Schmutzler, R K, Ellberg, C, Gerdes, A M, Caldes, T, Simard, J, Olah, E, Jakubowska, A, Rantala, J, Osorio, A, Hopper, J L, Phillips, K A, Milne, R L, Beth Terry, M, Noguès, C, Engel, C, Kast, K, Goldgar, D E, van Leeuwen, F E, Easton, D F, Andrieu, N, Rookus, M A & Epidemiological Study of Familial Breast Cancer, Gene Etude Prospective Sein Ovaire Sein, Hereditary Breast and Ovarian Cancer Research Group Netherlands, and International BRCA1/2 Carrier Cohort Study 2021, ' Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers : an international cohort study ', American Journal of Obstetrics and Gynecology, vol. 225, no. 1, pp. 51.e1-51.e17 . https://doi.org/10.1016/j.ajog.2021.01.014
EMBRACE, GENEPSO, HEBON, IBCCS & et al. 2021, ' Oral contraceptive use and ovarian cancer risk for BRCA1/2 mutation carriers: an international cohort study ', American Journal of Obstetrics and Gynecology . https://doi.org/10.1016/j.ajog.2021.01.014
American Journal of Obstetrics and Gynecology, 225, 1, pp. 51.e1-51.e17
Contains fulltext : 237895.pdf (Publisher’s version ) (Open Access) BACKGROUND: Ovarian cancer risk in BRCA1 and BRCA2 mutation carriers has been shown to decrease with longer duration of oral contraceptive use. Although the effects of using oral c
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::679a56d0abad49f333383dc486d3e8ab
http://www.ajog.org/article/S0002937821000387/pdf
http://www.ajog.org/article/S0002937821000387/pdf
Autor:
Marion Gauthier-Villars, Daniel Barrowdale, Matti A. Rookus, Douglas F. Easton, Nadine Andrieu, Mary Beth Terry, Bcfr, Louise Izatt, Jackie Cook, Maartje J. Hooning, T.M. Mooij, Marian J.E. Mourits, Bernadette A. M. Heemskerk-Gerritsen, Rita K. Schmutzler, Diana Eccles, Roger L. Milne, Javier Benitez, Alex Henderson, Catherine Noguès, Brita Arver, Marc Tischkowitz, Linetta B. Koppert, Carole Brewer, Flora E. van Leeuwen, Margreet G. E. M. Ausems, Antonis C. Antoniou, John L. Hopper, Christian F. Singer, Anne-Marie Gerdes, Jacques Simard, Irene L. Andrulis, David E. Goldgar, Anna Jakubowska, Saundra S. Buys, Pascal Pujol, Alain Lortholary, Marie Navratilova, Paul Gesta, Ros Eeles, Håkan Olsson, Yen Y. Tan, Trinidad Caldés, Debra Frost, Mary B. Daly, D. Gareth Evans, Edith Olah, Kelly-Anne Phillips, Karin Kast, Christoph Engel, Wendy K. Chung, Klaartje van Engelen, Esther M. John, Julian Adlard, Marie Jose Roos-Blom, Nasim Mavaddat, Olivier Caron, Lenka Foretova
Publikováno v:
Breast Cancer Research, Vol 22, Iss 1, Pp 1-3 (2020)
Breast Cancer Research : BCR
Breast Cancer Research : BCR
The effect of risk-reducing salpingo-oophorectomy (RRSO) on breast cancer risk for BRCA1 and BRCA2 mutation carriers is uncertain. Retrospective analyses have suggested a protective effect but may be substantially biased. Prospective studies have had