High diagnostic yield of multigene panel testing in patients with endocrine tumors

Autor: Henriett Butz, Petra Nagy, Janos Papp, Aniko Bozsik, Vince Grolmusz, Timea Pocza, Attila Patocs

Publikováno v: Endocrine Abstracts.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6ed7cd95924a0e90f7aa3bb700506e52
https://doi.org/10.1530/endoabs.90.p663

Breast and Prostate Cancer Risks for Male BRCA1 and BRCA2 Pathogenic Variant Carriers Using Polygenic Risk Scores

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

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

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

Challenging interpretation of germline TP53 variants based on the experience of a national comprehensive cancer centre

Autor: Henriett Butz, Anikó Bozsik, Vince Grolmusz, Erika Szőcs, János Papp, Attila Patócs

Publikováno v: Scientific Reports, Vol 13, Iss 1, Pp 1-11 (2023)

Abstract TP53 variant interpretation is still challenging, especially in patients with attenuated Li–Fraumeni syndrome (LFS). We investigated the prevalence of pathogenic/likely pathogenic (P/LP) variants and LFS disease in the Hungarian population

Externí odkaz: https://doaj.org/article/0714ce041823455f9c1ba4a58dc89331

A common genetic variation in GZMB may associate with cancer risk in patients with Lynch syndrome

Autor: Vince Kornél Grolmusz, Petra Nagy, István Likó, Henriett Butz, Tímea Pócza, Anikó Bozsik, János Papp, Edit Oláh, Attila Patócs

Publikováno v: Frontiers in Oncology, Vol 13 (2023)

Lynch syndrome (LS), also known as hereditary nonpolyposis colorectal cancer syndrome (HNPCC) is a common genetic predisposition to cancer due to germline mutations in genes affecting DNA mismatch repair. Due to mismatch repair deficiency, developing

Externí odkaz: https://doaj.org/article/eeb7b1b4eb274540b976ba88a6389a57