Genetik und Diagnostik des primären Lymphödems

Autor: Magdalena Danyel, Charlotte Kemper, Claus-Eric Ott, René Hägerling

Publikováno v: Phlebologie. 50:105-114

Zusammenfassung Einleitung Das primäre Lymphödem ist eine genetisch bedingte, angeborene Erkrankung, die durch einen unzureichenden Abtransport von Lymphflüssigkeit aufgrund einer Fehlbildung oder Fehlfunktion des Lymphgefäßsystems entsteht. Dab

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0cc881603487614fbcdb985e543013e5
https://doi.org/10.1055/a-1383-5360

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Autor: Daniel R. Barnes, Matti A. Rookus, Lesley McGuffog, Goska Leslie, Thea M. Mooij, Joe Dennis, Nasim Mavaddat, Julian Adlard, Munaza Ahmed, Kristiina Aittomäki, Nadine Andrieu, Irene L. Andrulis, Norbert Arnold, Banu K. Arun, Jacopo Azzollini, Judith Balmaña, Rosa B. Barkardottir, Daniel Barrowdale, Javier Benitez, Pascaline Berthet, Katarzyna Białkowska, Amie M. Blanco, Marinus J. Blok, Bernardo Bonanni, Susanne E. Boonen, Åke Borg, Aniko Bozsik, Angela R. Bradbury, Paul Brennan, Carole Brewer, Joan Brunet, Saundra S. Buys, Trinidad Caldés, Maria A. Caligo, Ian Campbell, Lise Lotte Christensen, Wendy K. Chung, Kathleen B.M. Claes, Chrystelle Colas, Marie-Agnès Collonge-Rame, Capucine Delnatte, Laurence Faivre, Sophie Giraud, Christine Lasset, Véronique Mari, Noura Mebirouk, Emmanuelle Mouret-Fourme, Hélène Schuster, Dominique Stoppa-Lyonnet, Antonis Antoniou, Jackie Cook, Rosemarie Davidson, Douglas Easton, Ros Eeles, D. Gareth Evans, Debra Frost, Helen Hanson, Louise Izatt, Kai-ren Ong, Lucy Side, Aoife O’Shaughnessy-Kirwan, Marc Tischkowitz, Lisa Walker, Mary B. Daly, Miguel de la Hoya, Robin de Putter, Peter Devilee, Orland Diez, Yuan Chun Ding, Susan M. Domchek, Cecilia M. Dorfling, Martine Dumont, Bent Ejlertsen, Christoph Engel, Lenka Foretova, Florentia Fostira, Michael Friedlander, Eitan Friedman, Patricia A. Ganz, Judy Garber, Andrea Gehrig, Anne-Marie Gerdes, Paul Gesta, Gord Glendon, Andrew K. Godwin, David E. Goldgar, Anna González-Neira, Mark H. Greene, Daphne Gschwantler-Kaulich, Eric Hahnen, Ute Hamann, Julia Hentschel, Frans B.L. Hogervorst, Maartje J. Hooning, Judit Horvath, Chunling Hu, Peter J. Hulick, Evgeny N. Imyanitov, Georgia Chenevix-Trench, Kelly-Anne Phillips, Amanda Spurdle, Marinus Blok, Frans Hogervorst, Maartje Hooning, Marco Koudijs, Arjen Mensenkamp, Hanne Meijers-Heijboer, Matti Rookus, Klaartje van Engelen, Catherine Noguès, Claudine Isaacs, Angel Izquierdo, Anna Jakubowska, Paul A. James, Ramunas Janavicius, Esther M. John, Vijai Joseph, Beth Y. Karlan, Karin Kast, Torben A. Kruse, Ava Kwong, Yael Laitman, Conxi Lazaro, Jenny Lester, Fabienne Lesueur, Annelie Liljegren, Jennifer T. Loud, Jan Lubiński, Phuong L. Mai, Siranoush Manoukian, Hanne E.J. Meijers-Heijboer, Alfons Meindl, Arjen R. Mensenkamp, Austin Miller, Marco Montagna, Semanti Mukherjee, Anna Marie Mulligan, Katherine L. Nathanson, Susan L. Neuhausen, Heli Nevanlinna, Dieter Niederacher, Finn Cilius Nielsen, Liene Nikitina-Zake, Edith Olah, Olufunmilayo I. Olopade, Ana Osorio, Claus-Eric Ott, Laura Papi, Sue K. Park, Michael T. Parsons, Inge Sokilde Pedersen, Bernard Peissel, Ana Peixoto, Paolo Peterlongo, Georg Pfeiler, Karolina Prajzendanc, Miquel Angel Pujana, Paolo Radice, Juliane Ramser, Susan J. Ramus, Johanna Rantala, Gad Rennert, Harvey A. Risch, Mark Robson, Karina Rønlund, Ritu Salani, Leigha Senter, Payal D. Shah, Priyanka Sharma, Lucy E. Side, Christian F. Singer, Thomas P. Slavin, Penny Soucy, Melissa C. Southey, Amanda B. Spurdle, Doris Steinemann, Zoe Steinsnyder, Christian Sutter, Yen Yen Tan, Manuel R. Teixeira, Soo Hwang Teo, Darcy L. Thull, Silvia Tognazzo, Amanda E. Toland, Alison H. Trainer, Nadine Tung, Elizabeth J. van Rensburg, Ana Vega, Jeroen Vierstraete, Gabriel Wagner, Shan Wang-Gohrke, Barbara Wappenschmidt, Jeffrey N. Weitzel, Siddhartha Yadav, Xin Yang, Drakoulis Yannoukakos, Dario Zimbalatti, Kenneth Offit, Mads Thomassen, Fergus J. Couch, Rita K. Schmutzler, Jacques Simard, Douglas F. Easton, Antonis C. Antoniou

Publikováno v: Genetics in Medicine, 22(10), 1653-1666. Lippincott Williams and Wilkins
Genetics in Medicine
Genetics in Medicine, 2020, 22 (10), pp.1653-1666. ⟨10.1038/s41436-020-0862-x⟩
Scientia
Barnes, D R, Rookus, M A, McGuffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L L, Chung, W K, Claes, K B M, Colas, C, Collonge-Rame, M A, Cook, J, Daly, M B, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Devilee, P, Horvath, J, Nielsen, F C, Pedersen, I S, GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, GENEPSO Investigators & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x
Barnes, D R, Rookus, M A, Mcguffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L L, Chung, W K, Claes, K B M, Colas, C, Collonge-rame, M, Cook, J, Daly, M B, Davidson, R, De La Hoya, M, De Putter, R, Delnatte, C, Devilee, P, Ejlertsen, B, Gerdes, A, Nielsen, F C & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x
Barnes, D R, Rookus, M A, McGuffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L L, Chung, W K, Claes, K B M, Colas, C, Collonge-Rame, M-A, Cook, J, Daly, M B, Davidson, R, de la Hoya, M, de Putter, R, Delnatte, C, Devilee, P, Diez, O, Ding, Y C & Pedersen, I S 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x
Genetics in Medicine, 22(10), 1653-1666. Nature Publishing Group
Genetics in Medicine, 22(10), 1653-1666. Lippincott Williams & Wilkins
Genetics in Medicine, 22(10), 1653-1666. SPRINGERNATURE
Genetics in Medicine, Nature Publishing Group, 2020, 22 (10), pp.1653-1666. ⟨10.1038/s41436-020-0862-x⟩
Barnes, D R, Rookus, M A, McGuffog, L, Leslie, G, Mooij, T M, Dennis, J, Mavaddat, N, Adlard, J, Ahmed, M, Aittomäki, K, Andrieu, N, Andrulis, I L, Arnold, N, Arun, B K, Azzollini, J, Balmaña, J, Barkardottir, R B, Barrowdale, D, Benitez, J, Berthet, P, Białkowska, K, Blanco, A M, Blok, M J, Bonanni, B, Boonen, S E, Borg, Å, Bozsik, A, Bradbury, A R, Brennan, P, Brewer, C, Brunet, J, Buys, S S, Caldés, T, Caligo, M A, Campbell, I, Christensen, L-L, Chung, W K, Claes, K B M, Colas, C, Collonge-Rame, M A, Cook, J, Daly, M B, Davidson, R, de la Hoya, M, de Putter, R, Gerdes, A M, Kruse, T A, Pedersen, I S, Rønlund, K, Thomassen, M, GEMO Study Collaborators, EMBRACE Collaborators, kConFab Investigators, HEBON Investigators, GENEPSO Investigators & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x
Genetics in Medicine, 22, 1653-1666
GEMO Study Collaborators, EMBRACE Collaborators, KConFab Investigators, HEBON Investigators, GENEPSO Investigators & Consortium of Investigators of Modifiers of BRCA and BRCA2 2020, ' Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants ', Genetics in Medicine, vol. 22, no. 10, pp. 1653-1666 . https://doi.org/10.1038/s41436-020-0862-x
Dipòsit Digital de la UB
Universidad de Barcelona
GENETICS IN MEDICINE
Genetics in Medicine, 22, 10, pp. 1653-1666

Contains fulltext : 229292.pdf (Publisher’s version ) (Open Access) PURPOSE: We assessed the associations between population-based polygenic risk scores (PRS) for breast (BC) or epithelial ovarian cancer (EOC) with cancer risks for BRCA1 and BRCA2

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e3029ddb1c317fd1f62f6f475f3d6664
https://research.vumc.nl/en/publications/df63a109-0100-470b-9379-c44745d8115d

Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness

Autor: Henriette Roed Nielsen, Judith Balmaña, Anne-Marie Gerdes, Ellen Honisch, Melissa C. Southey, Ramunas Janavicius, Finn Cilius Nielsen, Douglas F. Easton, Linda Steele, Ava Kwong, Sung Won Kim, Bjarni A. Agnarsson, Piera Rizzolo, Angela R. Solano, Mads Thomassen, Johannes Lemke, Grazia Artioli, Heli Nevanlinna, Johanna I. Kiiski, Frans B. L. Hogervorst, Jong Won Lee, Diana Eccles, Mark H. Greene, Marc Tischkowitz, David E. Goldgar, Angela R. Bradbury, Javier Benitez, Marie Navratilova, Dominique Stoppa-Lyonnet, Arjen R. Mensenkamp, Alfons Meindl, Zisun Kim, Nadine Tung, Agnes Jager, Matthew L. Freedman, Ana Osorio, Norbert Arnold, Doris Steinemann, Inge Søkilde Pedersen, Patricia Llovet, Rob B. van der Luijt, Vivek L Patel, Munaza Ahmed, Lidia Moserle, Irene Konstantopoulou, Jackie Cook, Jacques Simard, Joan Brunet, Johanna Rantala, Kai-ren Ong, Carole Brewer, Joe Dennis, Sook-Yee Yoon, Hanne Meijers-Heijboer, Roberta Villa, Katie Snape, Louise Izatt, Ana Peixoto, Susan M. Domchek, Nina Ditsch, D. Gareth Evans, Tara M. Friebel, Sue K. Park, Katherine L. Nathanson, Lenka Foretova, Miguel Angel Pujana, Edith Olah, Hélène Schuster, Raymonda Varon-Mateeva, Silvia Tognazzo, Payal D. Shah, Oskar T. Johannsson, Hans Ehrencrona, Paul Gesta, Ian G. Campbell, Drakoulis Yannoukakos, Mirjam Larsen, Anthony V. D'Amico, Liene Nikitina-Zake, Davide Bondavalli, Valérie Bonadona, Paul A. James, Alan Donaldson, Antonis C. Antoniou, Bernd Auber, Andrew K. Godwin, Denise Molina Gomes, Jihyoun Lee, Laurence Faivre, Almuth Caliebe, Pilar Garre, Siddhartha Yadav, Julika Borde, Pedro Pérez-Segura, Birgitte Bertelsen, Paolo Peterlongo, Michael T. Parsons, John L. Hopper, Bruno Buecher, Goska Leslie, Shan Wang-Gohrke, Amanda B. Spurdle, T.M. Mooij, Juliane Ramser, kConFab Investigators, Lídia Feliubadaló, Susanne E. Boonen, Bernard Peissel, Anna von Wachenfeldt, Timothy R. Rebbeck, Christi J. van Asperen, Víctor Lorca, Estela Carrasco, Elisa Alducci, Ulrike Faust, Karin Kast, Gord Glendon, Saundra S. Buys, Fergus J. Couch, Mariarosaria Calvello, Istvan Bodrogi, Kathryn J. Ruddy, Philipp Wagner, Fabienne Lesueur, Evan L. Busch, Hebon Investigators, Laura Cortesi, Christian F. Singer, Ute Hamann, Giuseppe Damante, Stefania Tommasi, Esther M. John, Jacopo Azzollini, Cristina Zanzottera, Angelica M. Gutierrez-Barrera, Emmanuelle Mouret-Fourme, Claire Saule, Rosa B. Barkardottir, Kristin K. Zorn, Kerstin Rhiem, Uffe Birk Jensen, Mark Pomerantz, Yuan Chun Ding, Alison H. Trainer, Marco Montagna, Vijai Joseph, Domenico Palli, Kwang-Pil Ko, Angel M. Cronin, Susan L. Neuhausen, Dieter Niederacher, Laura Ottini, Angela Toss, Rita K. Schmutzler, Muriel Belotti, Jeffrey N. Weitzel, Caroline M. Seynaeve, Ileana Carnevali, Adalgeir Arason, Rosalind A. Eeles, Annie T W Chu, Florentia Fostira, Greet Wieme, Brita Arver, Charlotte Kvist Lautrup, Christoph Engel, Marion Gauthier-Villars, Daniel Barrowdale, Caroline Maria Rossing, Kenneth Offit, Kathleen Claes, Olufunmilayo I. Olopade, Penny Soucy, Alicia Barroso, Manuel R. Teixeira, Wendy K. Chung, Gero Kramer, Tsun Leung Chan, Agostina Stradella, Debra Frost, Noura Mebirouk, Liselotte P. van Hest, Esther Darder, Valentina Silvestri, Annabeth Høgh Petersen, Lesley McGuffog, Andrea Gehrig, Mary Porteous, Matti A. Rookus, Lizet E. van der Kolk, Siranoush Manoukian, Lone Sunde, Conxi Lázaro, Maria A. Caligo, Priyanka Sharma, Anne-Bine Skytte, Claus-Eric Ott, Christian Sutter, Paolo Radice, Veronica Medici, Georgia Chenevix-Trench, Vanesa García-Barberán, Kristiina Aittomäki, Amanda E. Toland, Anna Marie Mulligan, Véronique Mari, Bernd Dworniczak, Lynn Martin, Lara Della Puppa, Phuong L. Mai, George Fountzilas, Yen Y. Tan, Simona Agata, Torben A Kruse, Trinidad Caldés, Rosemarie Davidson, Daniel R. Barnes, Thomas Dyrso Jensen, Åke Borg, Mark E. Robson, Jennifer T. Loud, Vivian Y. Shin, Irene López-Perolio, Leigha Senter, Irene L. Andrulis, Rosa Scarpitta, Angela F. Brady, Annika Lindblom, Diana Torres, Lotte Nylandsted Krogh, Barbara Wappenschmidt, Muhammad Rashid, Jeroen Vierstraete, Mary B. Daly, Annelie Liljegren, Frederieke H. van der Baan, Eunyoung Kang, Alessandra Viel, Santiago Cabezas-Camarero, Eric Hahnen, Laura Matricardi, Marinus J. Blok, Edmond S. K. Ma, Maria Grazia Tibiletti, Catarina Santos, Julian Adlard, Soo Hwang Teo, Giuseppe Giannini, Jan Hauke, Peter J. Hulick, Miguel de la Hoya, Clare Miller, Bernardo Bonanni, Bent Ejlertsen, Lajos Géczi, Liliana Varesco, Orland Diez, N Herold, Christine Lasset, Adrià López-Fernández, Min Hyuk Lee

Publikováno v: Cancer Research, 80(3), 624-638. American Association for Cancer Research Inc.
Cancer Research, 80, 3, pp. 624-638
Patel, V L, Busch, E L, Friebel, T M, Cronin, A, Leslie, G, McGuffog, L, Adlard, J, Agata, S, Agnarsson, B A, Ahmed, M, Aittomäki, K, Alducci, E, Andrulis, I L, Arason, A, Arnold, N, Artioli, G, Arver, B, Auber, B, Azzollini, J, Balmaña, J, Barkardottir, R B, Barnes, D R, Barroso, A, Barrowdale, D, Belotti, M, Benitez, J, Bertelsen, B, Blok, M J, Bodrogi, I, Bonadona, V, Bonanni, B, Bondavalli, D, Boonen, S E, Borde, J, Borg, A, Bradbury, A R, Brady, A, Brewer, C, Brunet, J, Buecher, B, Buys, S S, Cabezas-Camarero, S, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Campbell, I G, Carnevali, I, Carrasco, E, Chan, T L, Chu, A T W, Chung, W K, Claes, K B M, Collaborators, G S, Collaborators, E, Cook, J, Cortesi, L, Couch, F J, Daly, M B, Damante, G, Darder, E, Davidson, R, de la Hoya, M, Della Puppa, L, Dennis, J, Díez, O, Ding, Y C, Ditsch, N, Domchek, S M, Donaldson, A, Dworniczak, B, Easton, D F, Eccles, D M, Eeles, R A, Ehrencrona, H, Ejlertsen, B, Engel, C, Evans, D G, Faivre, L, Faust, U, Feliubadaló, L, Foretova, L, Fostira, F, Fountzilas, G, Frost, D, García-Barberán, V, Garre, P, Gauthier-Villars, M, Géczi, L, Gehrig, A, Gerdes, A-M, Gesta, P, Giannini, G, Glendon, G, Godwin, A K, Goldgar, D E, Greene, M H, Gutierrez-Barrera, A M, Hahnen, E, Hamann, U, Hauke, J, Herold, N, Hogervorst, F B L, Honisch, E, Hopper, J L, Hulick, P J, Investigators, KC, Investigators, H, Izatt, L, Jager, A, James, P, Janavicius, R, Jensen, U B, Jensen, T D, Johannsson, O T, John, E M, Joseph, V, Kang, E, Kast, K, Kiiski, J I, Kim, S-W, Kim, Z, Ko, K-P, Konstantopoulou, I, Kramer, G, Krogh, L, Kruse, T A, Kwong, A, Larsen, M, Lasset, C, Lautrup, C, Lázaro, C, Lee, J, Lee, J W, Lee, M H, Lemke, J, Lesueur, F, Liljegren, A, Lindblom, A, Llovet, P, Lopez-Fernández, A, Lopez-Perolio, I, Lorca, V, Loud, J T, Ma, E S K, Mai, P L, Manoukian, S, Mari, V, Martin, L, Matricardi, L, Mebirouk, N, Medici, V, Meijers-Heijboer, H E J, Meindl, A, Mensenkamp, A R, Miller, C, Molina Gomes, D, Montagna, M, Mooij, T M, Moserle, L, Mouret-Fourme, E, Mulligan, A M, Nathanson, K L, Navratilova, M, Nevanlinna, H, Niederacher, D, Cilius Nielsen, F C, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, O I, Ong, K-R, Osorio, A, Ott, C-E, Palli, D, Park, S K, Parsons, M T, Pedersen, I S, Peissel, B, Peixoto, A, Pérez-Segura, P, Peterlongo, P, Høgh Petersen, A, Porteous, M E, Pujana, M A, Radice, P, Ramser, J, Rantala, J, Rashid, M U, Rhiem, K, Rizzolo, P, Robson, M E, Rookus, M A, Rossing, C M, Ruddy, K J, Santos, C, Saule, C, Scarpitta, R, Schmutzler, R K, Schuster, H, Senter, L, Seynaeve, C M, Shah, P D, Sharma, P, Shin, V Y, Silvestri, V, Simard, J, Singer, C F, Skytte, A-B, Snape, K, Solano, A R, Soucy, P, Southey, M C, Spurdle, A B, Steele, L, Steinemann, D, Stoppa-Lyonnet, D, Stradella, A, Sunde, L, Sutter, C, Tan, Y Y, Teixeira, M R, Teo, S H, Thomassen, M, Tibiletti, M G, Tischkowitz, M, Tognazzo, S, Toland, A E, Tommasi, S, Torres, D, Toss, A, Trainer, A H, Tung, N, van Asperen, C J, van der Baan, F H, van der Kolk, L E, van der Luijt, R B, van Hest, L P, Varesco, L, Varon-Mateeva, R, Viel, A, Vierstraete, J, Villa, R, von Wachenfeldt, A, Wagner, P, Wang-Gohrke, S, Wappenschmidt, B, Weitzel, J N, Wieme, G, Yadav, S, Yannoukakos, D, Yoon, S-Y, Zanzottera, C, Zorn, K K, D'Amico, A V, Freedman, M L, Pomerantz, M M, Chenevix-Trench, G, Antoniou, A C, Neuhausen, S L, Ottini, L, Nielsen, H R & Rebbeck, T R 2020, ' Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness ', Cancer Research, vol. 80, no. 3, pp. 624-638 . https://doi.org/10.1158/0008-5472.CAN-19-1840
Patel, V L, Busch, E L, Friebel, T M, Cronin, A, Leslie, G, McGuffog, L, Adlard, J, Agata, S, Agnarsson, B A, Ahmed, M, Aittomäki, K, Alducci, E, Andrulis, I L, Arason, A, Arnold, N, Artioli, G, Arver, B, Auber, B, Azzollini, J, Balmaña, J, Barkardottir, R B, Barnes, D R, Barroso, A, Barrowdale, D, Belotti, M, Benitez, J, Bertelsen, B, Blok, M J, Bodrogi, I, Bonadona, V, Bonanni, B, Bondavalli, D, Boonen, S E, Borde, J, Borg, A, Bradbury, A R, Brady, A, Brewer, C, Brunet, J, Buecher, B, Buys, S S, Cabezas-Camarero, S, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Campbell, I G, Carnevali, I, Carrasco, E, Chan, T L, Chu, A T W, Chung, W K, Claes, K B M, Collaborators, G S, Collaborators, E, Cook, J, Cortesi, L, Couch, F J, Daly, M B, Damante, G, Darder, E, Davidson, R, de la Hoya, M, Della Puppa, L, Dennis, J, Díez, O, Ding, Y C, Ditsch, N, Domchek, S M, Donaldson, A, Dworniczak, B, Easton, D F, Eccles, D M, Eeles, R A, Ehrencrona, H, Ejlertsen, B, Engel, C, Evans, D G, Faivre, L, Faust, U, Feliubadaló, L, Foretova, L, Fostira, F, Fountzilas, G, Frost, D, García-Barberán, V, Garre, P, Gauthier-Villars, M, Géczi, L, Gehrig, A, Gerdes, A-M, Gesta, P, Giannini, G, Glendon, G, Godwin, A K, Goldgar, D E, Greene, M H, Gutierrez-Barrera, A M, Hahnen, E, Hamann, U, Hauke, J, Herold, N, Hogervorst, F B L, Honisch, E, Hopper, J L, Hulick, P J, Investigators, KC, Investigators, H, Izatt, L, Jager, A, James, P, Janavicius, R, Jensen, U B, Jensen, T D, Johannsson, O T, John, E M, Joseph, V, Kang, E, Kast, K, Kiiski, J I, Kim, S-W, Kim, Z, Ko, K-P, Konstantopoulou, I, Kramer, G, Krogh, L, Kruse, T A, Kwong, A, Larsen, M, Lasset, C, Lautrup, C, Lázaro, C, Lee, J, Lee, J W, Lee, M H, Lemke, J, Lesueur, F, Liljegren, A, Lindblom, A, Llovet, P, Lopez-Fernández, A, Lopez-Perolio, I, Lorca, V, Loud, J T, Ma, E S K, Mai, P L, Manoukian, S, Mari, V, Martin, L, Matricardi, L, Mebirouk, N, Medici, V, Meijers-Heijboer, H E J, Meindl, A, Mensenkamp, A R, Miller, C, Molina Gomes, D, Montagna, M, Mooij, T M, Moserle, L, Mouret-Fourme, E, Mulligan, A M, Nathanson, K L, Navratilova, M, Nevanlinna, H, Niederacher, D, Cilius Nielsen, F C, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, O I, Ong, K-R, Osorio, A, Ott, C-E, Palli, D, Park, S K, Parsons, M T, Pedersen, I S, Peissel, B, Peixoto, A, Pérez-Segura, P, Peterlongo, P, Høgh Petersen, A, Porteous, M E, Pujana, M A, Radice, P, Ramser, J, Rantala, J, Rashid, M U, Rhiem, K, Rizzolo, P, Robson, M E, Rookus, M A, Rossing, C M, Ruddy, K J, Santos, C, Saule, C, Scarpitta, R, Schmutzler, R K, Schuster, H, Senter, L, Seynaeve, C M, Shah, P D, Sharma, P, Shin, V Y, Silvestri, V, Simard, J, Singer, C F, Skytte, A-B, Snape, K, Solano, A R, Soucy, P, Southey, M C, Spurdle, A B, Steele, L, Steinemann, D, Stoppa-Lyonnet, D, Stradella, A, Sunde, L, Sutter, C, Tan, Y Y, Teixeira, M R, Teo, S H, Thomassen, M, Tibiletti, M G, Tischkowitz, M, Tognazzo, S, Toland, A E, Tommasi, S, Torres, D, Toss, A, Trainer, A H, Tung, N, van Asperen, C J, van der Baan, F H, van der Kolk, L E, van der Luijt, R B, van Hest, L P, Varesco, L, Varon-Mateeva, R, Viel, A, Vierstraete, J, Villa, R, von Wachenfeldt, A, Wagner, P, Wang-Gohrke, S, Wappenschmidt, B, Weitzel, J N, Wieme, G, Yadav, S, Yannoukakos, D, Yoon, S-Y, Zanzottera, C, Zorn, K K, D'Amico, A V, Freedman, M L, Pomerantz, M M, Chenevix-Trench, G, Antoniou, A C, Neuhausen, S L, Ottini, L, Nielsen, H R & Rebbeck, T R 2020, ' Association of genomic domains in BRCA1 and BRCA2 with prostate cancer risk and aggressiveness ', Cancer Research, vol. 80, no. 3, pp. 624-638 . https://doi.org/10.1158/0008-5472.CAN-19-1840
Evans, D G & et al. 2019, ' Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness ', Cancer Research . https://doi.org/10.1158/0008-5472.CAN-19-1840
Patel, V L, Busch, E L, Friebel, T M, Cronin, A, Leslie, G, McGuffog, L, Adlard, J, Agata, S, Agnarsson, B A, Ahmed, M, Aittomäki, K, Alducci, E, Andrulis, I L, Arason, A, Arnold, N, Artioli, G, Arver, B, Auber, B, Azzollini, J, Balmaña, J, Barkardottir, R B, Barnes, D R, Barroso, A, Barrowdale, D, Belotti, M, Benitez, J, Bertelsen, B, Blok, M J, Bodrogi, I, Bonadona, V, Bonanni, B, Bondavalli, D, Boonen, S E, Borde, J, Borg, A, Bradbury, A R, Brady, A, Brewer, C, Brunet, J, Buecher, B, Buys, S S, Cabezas-Camarero, S, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Campbell, I G, Carnevali, I, Carrasco, E, Chan, T L, Chu, A T W, Chung, W K, Claes, K B M, Collaborators, G S, Collaborators, E, Cook, J, Cortesi, L, Couch, F J, Daly, M B, Damante, G, Darder, E, Davidson, R, de la Hoya, M, Della Puppa, L, Dennis, J, Díez, O, Ding, Y C, Ditsch, N, Domchek, S M, Donaldson, A, Dworniczak, B, Easton, D F, Eccles, D M, Eeles, R A, Ehrencrona, H, Ejlertsen, B, Engel, C, Evans, D G, Faivre, L, Faust, U, Feliubadaló, L, Foretova, L, Fostira, F, Fountzilas, G, Frost, D, García-Barberán, V, Garre, P, Gauthier-Villars, M, Géczi, L, Gehrig, A, Gerdes, A-M, Gesta, P, Giannini, G, Glendon, G, Godwin, A K, Goldgar, D E, Greene, M H, Gutierrez-Barrera, A M, Hahnen, E, Hamann, U, Hauke, J, Herold, N, Hogervorst, F B L, Honisch, E, Hopper, J L, Hulick, P J, Investigators, KC, Investigators, H, Izatt, L, Jager, A, James, P, Janavicius, R, Jensen, U B, Jensen, T D, Johannsson, O T, John, E M, Joseph, V, Kang, E, Kast, K, Kiiski, J I, Kim, S-W, Kim, Z, Ko, K-P, Konstantopoulou, I, Kramer, G, Krogh, L, Kruse, T A, Kwong, A, Larsen, M, Lasset, C, Lautrup, C, Lázaro, C, Lee, J, Lee, J W, Lee, M H, Lemke, J, Lesueur, F, Liljegren, A, Lindblom, A, Llovet, P, Lopez-Fernández, A, Lopez-Perolio, I, Lorca, V, Loud, J T, Ma, E S K, Mai, P L, Manoukian, S, Mari, V, Martin, L, Matricardi, L, Mebirouk, N, Medici, V, Meijers-Heijboer, H E J, Meindl, A, Mensenkamp, A R, Miller, C, Molina Gomes, D, Montagna, M, Mooij, T M, Moserle, L, Mouret-Fourme, E, Mulligan, A M, Nathanson, K L, Navratilova, M, Nevanlinna, H, Niederacher, D, Cilius Nielsen, F C, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, O I, Ong, K-R, Osorio, A, Ott, C-E, Palli, D, Park, S K, Parsons, M T, Pedersen, I S, Peissel, B, Peixoto, A, Pérez-Segura, P, Peterlongo, P, Høgh Petersen, A, Porteous, M E, Pujana, M A, Radice, P, Ramser, J, Rantala, J, Rashid, M U, Rhiem, K, Rizzolo, P, Robson, M E, Rookus, M A, Rossing, C M, Ruddy, K J, Santos, C, Saule, C, Scarpitta, R, Schmutzler, R K, Schuster, H, Senter, L, Seynaeve, C M, Shah, P D, Sharma, P, Shin, V Y, Silvestri, V, Simard, J, Singer, C F, Skytte, A-B, Snape, K, Solano, A R, Soucy, P, Southey, M C, Spurdle, A B, Steele, L, Steinemann, D, Stoppa-Lyonnet, D, Stradella, A, Sunde, L, Sutter, C, Tan, Y Y, Teixeira, M R, Teo, S H, Thomassen, M, Tibiletti, M G, Tischkowitz, M, Tognazzo, S, Toland, A E, Tommasi, S, Torres, D, Toss, A, Trainer, A H, Tung, N, van Asperen, C J, van der Baan, F H, van der Kolk, L E, van der Luijt, R B, van Hest, L P, Varesco, L, Varon-Mateeva, R, Viel, A, Vierstraete, J, Villa, R, von Wachenfeldt, A, Wagner, P, Wang-Gohrke, S, Wappenschmidt, B, Weitzel, J N, Wieme, G, Yadav, S, Yannoukakos, D, Yoon, S-Y, Zanzottera, C, Zorn, K K, D'Amico, A V, Freedman, M L, Pomerantz, M M, Chenevix-Trench, G, Antoniou, A C, Neuhausen, S L, Ottini, L, Nielsen, H R & Rebbeck, T R 2020, ' Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness ', Cancer research, vol. 80, no. 3, pp. 624-638 . https://doi.org/10.1158/0008-5472.CAN-19-1840
Cancer Research, 80(3), 624-638. AMER ASSOC CANCER RESEARCH
Cancer Research, 80, 624-638
Cancer research, 80(3), 624-638. American Association for Cancer Research Inc.
Patel, V L, Busch, E L, Friebel, T M, Cronin, A, Leslie, G, McGuffog, L, Adlard, J, Agata, S, Agnarsson, B A, Ahmed, M, Aittomäki, K, Alducci, E, Andrulis, I L, Arason, A, Arnold, N, Artioli, G, Arver, B, Auber, B, Azzollini, J, Balmaña, J, Barkardottir, R B, Barnes, D R, Barroso, A, Barrowdale, D, Belotti, M, Benitez, J, Bertelsen, B, Blok, M J, Bodrogi, I, Bonadona, V, Bonanni, B, Bondavalli, D, Boonen, S E, Borde, J, Borg, A, Bradbury, A R, Brady, A, Brewer, C, Brunet, J, Buecher, B, Buys, S S, Cabezas-Camarero, S, Caldés, T, Caliebe, A, Caligo, M A, Calvello, M, Campbell, I G, Carnevali, I, Carrasco, E, Chan, T L, Chu, A T W, Chung, W K, Claes, K B M, Collaborators, G S, Collaborators, E, Cook, J, Cortesi, L, Couch, F J, Daly, M B, Damante, G, Darder, E, Davidson, R, de la Hoya, M, Puppa, L D, Dennis, J, Díez, O, Ding, Y C, Ditsch, N, Domchek, S M, Donaldson, A, Dworniczak, B, Easton, D F, Eccles, D M, Eeles, R A, Ehrencrona, H, Ejlertsen, B, Engel, C, Evans, D G, Faivre, L, Faust, U, Feliubadaló, L, Foretova, L, Fostira, F, Fountzilas, G, Frost, D, García-Barberán, V, Garre, P, Gauthier-Villars, M, Géczi, L, Gehrig, A, Gerdes, A M, Gesta, P, Giannini, G, Glendon, G, Godwin, A K, Radice, P, Greene, M H, Gutierrez-Barrera, A M, Hahnen, E, Hamann, U, Hauke, J, Herold, N, Hogervorst, F B L, Honisch, E, Hopper, J L, Hulick, P J, Investigators, KC F, Investigators, H, Izatt, L, Jager, A, James, P, Janavicius, R, Jensen, U B, Jensen, T D, Johannsson, O T, John, E M, Joseph, V, Kang, E, Kast, K, Kiiski, J I, Kim, S W, Kim, Z, Ko, K P, Konstantopoulou, I, Kramer, G, Krogh, L, Kruse, T A, Kwong, A, Larsen, M, Lasset, C, Lautrup, C, Lazaro, C, Lee, J, Lee, J W, Lee, M H, Lemke, J, Lesueur, F, Liljegren, A, Lindblom, A, Llovet, P, Lopez-Fernández, A, Lopez-Perolio, I, Lorca, V, Loud, J T, Ma, E S K, Mai, P L, Manoukian, S, Mari, V, Martin, L, Matricardi, L, Mebirouk, N, Medici, V, Meijers-Heijboer, H E J, Meindl, A, Mensenkamp, A R, Miller, C, Gomes, D M, Montagna, M, Mooij, T M, Moserle, L, Mouret-Fourme, E, Mulligan, A M, Nathanson, K L, Navratilova, M, Nevanlinna, H, Niederacher, D, Nielsen, F C C, Nikitina-Zake, L, Offit, K, Olah, E, Olopade, O I, Ong, K R, Osorio, A, Ott, C E, Palli, D, Park, S K, Parsons, M T, Pedersen, I S, Peissel, B, Peixoto, A, Pérez-Segura, P, Peterlongo, P, Petersen, A H, Porteous, M E, Pujana, M A, Radice, P, Ramser, J, Rantala, J, Rashid, M U, Rhiem, K, Rizzolo, P, Robson, M E, Rookus, M A, Rossing, C M, Ruddy, K J, Santos, C, Saule, C, Scarpitta, R, Schmutzler, R K, Schuster, H, Senter, L, Seynaeve, C M, Shah, P D, Sharma, P, Shin, V Y, Silvestri, V, Simard, J, Singer, C F, Skytte, A B, Snape, K, Solano, A R, Soucy, P, Southey, M C, Spurdle, A B, Steele, L, Steinemann, D, Stoppa-Lyonnet, D, Stradella, A, Sunde, L, Sutter, C, Tan, Y Y, Teixeira, M R, Teo, S H, Thomassen, M, Tibiletti, M G, Tischkowitz, M, Tognazzo, S, Toland, A E, Tommasi, S, Torres, D, Toss, A, Trainer, A H, Tung, N, van Asperen, C J, van der Baan, F H, van der Kolk, L E, van der Luijt, R B, van Hest, L P, Varesco, L, Varon-Mateeva, R, Viel, A, Vierstrate, J, Villa, R, von Wachenfeldt, A, Wagner, P, Wang-Gohrke, S, Wappenschmidt, B, Weitzel, J N, Wieme, G, Yadav, S, Yannoukakos, D, Yoon, S Y, Zanzottera, C, Zorn, K K, D'Amico, A V, Freedman, M L, Pomerantz, M M, Chenevix-Trench, G, Antoniou, A C, Neuhausen, S L, Ottini, L, Nielsen, H R & Rebbeck, T R 2020, ' Association of Genomic Domains in BRCA1 and BRCA2 with Prostate Cancer Risk and Aggressiveness ', Cancer Research, vol. 80, no. 3, pp. 624-638 . https://doi.org/10.1158/0008-5472.CAN-19-1840
Cancer Res
Cancer Research, 80(3), 624. American Association for Cancer Research Inc.

Pathogenic sequence variants (PSV) in BRCA1 or BRCA2 (BRCA1/2) are associated with increased risk and severity of prostate cancer. We evaluated whether PSVs in BRCA1/2 were associated with risk of overall prostate cancer or high grade (Gleason 8+) pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::586e4ca6b50ef1e96acbb61e1a78bc0c
https://eprints.soton.ac.uk/438074/

Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study

Autor: Jean Tori, Pantel, Nurulhuda, Hajjir, Magdalena, Danyel, Jonas, Elsner, Angela Teresa, Abad-Perez, Peter, Hansen, Stefan, Mundlos, Malte, Spielmann, Denise, Horn, Claus-Eric, Ott, Martin Atta, Mensah

Publikováno v: Journal of Medical Internet Research (JMIR)
Journal of Medical Internet Research, Vol 22, Iss 10, p e19263 (2020)
Journal of Medical Internet Research

BackgroundCollectively, an estimated 5% of the population have a genetic disease. Many of them feature characteristics that can be detected by facial phenotyping. Face2Gene CLINIC is an online app for facial phenotyping of patients with genetic syndr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d53c2accbb6d2749e2d029a9758fd2fd

Novel variants in TECRL cause recessive inherited CPVT type 3 with severe and variable clinical symptoms

Autor: Thomas Paul, Ulrich Krause, Imma Rost, Christoph Marschall, Claus-Eric Ott, Leif-Hendrik Boldt, Carsten Müntjes, Anja Bennewiz, Anne Schönecker, Alexander Moscu-Gregor, Abdul Shokor Parwani, Franziska Schuessler‐Hahn, Felix Hohendanner

Introduction Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited arrhythmia syndrome characterized by adrenergically stimulated ventricular tachycardia. The most common form of CPVT is due to autosomal dominant variants in th

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2a723f8e6339fd01ffb16c4c54d0cbab
https://www.ncbi.nlm.nih.gov/pubmed/32173957