Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Frans B L Hogervorst"'
Autor:
Christi J. van Asperen, Leigha Senter, Javier Benitez, Kenneth Offit, Marco Montagna, Irene L. Andrulis, Phuong L. Mai, Yen Y. Tan, Lidia Moserle, Sara Torres-Esquius, Trinidad Caldés, Orland Diez, Daniel R. Barnes, Åke Borg, Daniel Barrowdale, Joanne Ngeow, Siranoush Manoukian, Soo Hwang Teo, Maria A. Caligo, Inge Søkilde Pedersen, Jennifer T. Loud, Marta Santamariña, Amanda E. Toland, Anna Marie Mulligan, Irene Konstantopoulou, Antonis C. Antoniou, Paul A. James, Eitan Friedman, Barbara Wappenschmidt, Marc Tischkowitz, Laura Papi, Ana Osorio, Georgia Chenevix-Trench, Eva Machackova, Pedro Pinto, Keivan Majidzadeh-A, Bernardo Bonanni, Kristiina Aittomäki, Berardino Porfirio, Johanna Rantala, Valentina Silvestri, Bent Ejlertsen, Melissa C. Southey, Ramunas Janavicius, Elisabetta Landucci, Liene Nikitina-Zake, Lajos Géczi, Saundra S. Buys, Angela R. Solano, Sarah Colonna, Ana Vega, Fabienne Lesueur, Frans B. L. Hogervorst, Goska Leslie, David E. Goldgar, Peter J. Hulick, Rosa B. Barkardottir, Kristin K. Zorn, Elisa Alducci, Miguel de la Hoya, Fergus J. Couch, Laura Ottini, Anne-Marie Gerdes, Uffe Birk Jensen, Ute Hamann, Christoph Engel, Allison W. Kurian, Douglas F. Easton, Annabeth Høgh Petersen, Alessandra Viel, Linda Steele, Zoe Steinsnyder, Ava Kwong, Alicia Barroso, Eric Hahnen, Mads Thomassen, Maria Rossing, Rita K. Schmutzler, Wendy K. Chung, Angel Izquierdo, Barak Rosenzweig, Jeroen Vierstraete, Mark H. Greene, Lenka Foretova, Jeffrey N. Weitzel, Paolo Radice, Muhammad Usman Rashid, Katherine L. Nathanson, Lesley McGuffog, Ian G. Campbell, John L. Hopper, Laura Cortesi, Christian F. Singer, Sook-Yee Yoon, Lídia Feliubadaló, Bjarni A. Agnarsson, Susan M. Domchek, Vijai Joseph, Manuel R. Teixeira, Dominique Stoppa-Lyonnet, Nadine Tung, Andrew K. Godwin, Jacques Simard, Yuan Chun Ding, Carlo Capalbo, Florentia Fostira, Greet Wieme, Mary Beth Terry, Kathleen Claes, Olufunmilayo I. Olopade, Pedro Pérez-Segura, Heli Nevanlinna, D. Gareth Evans, Edith Olah, Michael T. Parsons, Claudine Isaacs, Miquel Angel Pujana, Timothy R. Rebbeck, Gord Glendon, Susan L. Neuhausen, Judy Kirk, Sue K. Park, Esther M. John
Publikováno v:
Silvestri, V, Leslie, G, Barnes, D R & The CIMBA Group 2020, ' Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants : Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) ', JAMA Oncology, vol. 6, no. 8, pp. 1218-1230 . https://doi.org/10.1001/jamaoncol.2020.2134
JAMA Oncol
Silvestri, V, Leslie, G, Barnes, D R, and the CIMBA Group & Pedersen, I S 2020, ' Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants : Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) ', JAMA Oncology, vol. 6, no. 8, pp. 1218-1230 . https://doi.org/10.1001/jamaoncol.2020.2134
CIMBA Group 2020, ' Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants : Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) ', JAMA oncology, vol. 6, no. 8, pp. 1218-1230 . https://doi.org/10.1001/jamaoncol.2020.2134
Silvestri, V, Leslie, G, Barnes, D R & CIMBA Consortium 2020, ' Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants : Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) ', JAMA Oncology, vol. 6, no. 8, pp. 1218-1230 . https://doi.org/10.1001/jamaoncol.2020.2134
JAMA Oncol
Silvestri, V, Leslie, G, Barnes, D R, and the CIMBA Group & Pedersen, I S 2020, ' Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants : Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) ', JAMA Oncology, vol. 6, no. 8, pp. 1218-1230 . https://doi.org/10.1001/jamaoncol.2020.2134
CIMBA Group 2020, ' Characterization of the Cancer Spectrum in Men With Germline BRCA1 and BRCA2 Pathogenic Variants : Results From the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) ', JAMA oncology, vol. 6, no. 8, pp. 1218-1230 . https://doi.org/10.1001/jamaoncol.2020.2134
Silvestri, V, Leslie, G, Barnes, D R & CIMBA Consortium 2020, ' Characterization of the Cancer Spectrum in Men with Germline BRCA1 and BRCA2 Pathogenic Variants : Results from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA) ', JAMA Oncology, vol. 6, no. 8, pp. 1218-1230 . https://doi.org/10.1001/jamaoncol.2020.2134
Importance The limited data on cancer phenotypes in men with germline BRCA1 and BRCA2 pathogenic variants (PVs) have hampered the development of evidence-based recommendations for early cancer detection and risk reduction in this population. Objectiv
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af70047ce68cfa6b8f9aab53294ab42e
https://pure.au.dk/portal/da/publications/characterization-of-the-cancer-spectrum-in-men-with-germline-brca1-and-brca2-pathogenic-variants(cf83d5bf-b11a-4ce3-a411-d89a202a7ba3).html
https://pure.au.dk/portal/da/publications/characterization-of-the-cancer-spectrum-in-men-with-germline-brca1-and-brca2-pathogenic-variants(cf83d5bf-b11a-4ce3-a411-d89a202a7ba3).html
Autor:
Peter Van ‘t Hof, Joe Dennis, Frans B. L. Hogervorst, Caro M. Meijers, Kyriaki Michailidou, Petra M. Nederlof, Hailiang Mei, Peter Devilee, Christi J. van Asperen, Florentine Hilbers
Publikováno v:
International Journal of Cancer
International Journal of Cancer, 147(10), 2708-2716. WILEY
International Journal of Cancer, 147(10), 2708-2716. WILEY
Breast cancer risk is approximately twice as high in first‐degree relatives of female breast cancer cases than in women in the general population. Less than half of this risk can be attributed to the currently known genetic risk factors. Recessive
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::29a6048ce0beb09853ce99629625a439
https://hdl.handle.net/1887/3184435
https://hdl.handle.net/1887/3184435
Autor:
Ian Tomlinson, Thérèse Truong, Henrik Flyger, Martha J. Shrubsole, Manjeet K. Bolla, Paolo Radice, Janet E. Olson, Xiao-Ou Shu, Ching-Yu Cheng, Kyriaki Michailidou, John L. Hopper, Annika Lindblom, Lizet E. van der Kolk, Paolo Peterlongo, Cora M. Aalfs, Susan L. Neuhausen, Hermela Shimelis, Jonine D. Figueroa, Florentia Fostira, Ji Yeob Choi, Fabienne Calléja, Setareh Moghadasi, Barbara Brouwers, Hui Miao, Pascal Guénel, Graham G. Giles, Roger L. Milne, Gord Glendon, Hidemi Ito, Per Hall, Jingmei Li, Elinor J. Sawyer, Javier Benitez, Isabel dos-Santos-Silva, Melissa C. Southey, Jyh-Cherng Yu, Curtis Olswold, Julian Peto, Valerie Rhenius, Katri Pylkäs, Anne Lise Børresen-Dale, Robert Winqvist, J. Margriet Collée, Mitul Shah, Minouk J. Schoemaker, Barbara Burwinkel, Pharoah Pd, Hermann Brenner, Keitaro Matsuo, Eva Machackova, Caroline M. Seynaeve, David E. Goldgar, Anna Jakubowska, Paul Brennan, Kathleen Claes, Montserrat Garcia-Closas, Vessela N. Kristensen, Douglas F. Easton, Hoda Anton-Culver, Åsa Ehlén, Stig E. Bojesen, Maaike P.G. Vreeswijk, Irene L. Andrulis, Annegien Broeks, Joe Dennis, Daniel O. Stram, Simon S. Cross, Christopher A. Haiman, Hatef Darabi, Veli-Matti Kosma, Daehee Kang, Frans B. L. Hogervorst, Alison M. Dunning, Aura Carreira, Antoinette Hollestelle, Kenneth Muir, Susan L. Slager, Thilo Dörk, Jennifer A. Leary, Sara Margolin, Jenna Lilyquist, Jenny Chang-Claude, Liliana Varesco, Amanda B. Spurdle, Georgia Chenevix-Trench, Diana Torres, Emily Hallberg, Marjanka K. Schmidt, Kristiina Aittomäki, Harry Vrieling, Loic Le Marchand, Catharina von Nicolai, Angela Cox, Matthias W. Beckmann, Natalia Bogdanova, Volker Arndt, Anja Rudolph, Arto Mannermaa, Heli Nevanlinna, Jamie Hinton, Lenka Foretova, Logan C. Walker, Muhammad Usman Rashid, Wei Zheng, Ying Zheng, Peter Devilee, Lucia Guidugli, Frederik Marme, Jan C. Oosterwijk, Alvaro N.A. Monteiro, Anna H. Wu, Anthony J. Swerdlow, Mikael Hartman, Soo H. Teo, Hiltrud Brauch, Thomas Brüning, Artitaya Lophatananon, Peter A. Fasching, Diether Lambrechts, Christi J. van Asperen, Chen-Yang Shen, Suleeporn Sangrajrang, Huong Meeks, Jan Lubinski, Kah-Nyin Lai, Ana Osorio, Chunling Hu, Qin Wang, Kamila Czene, Romy L. S. Mesman, Fergus J. Couch, Ute Hamann, Charlotte Martin
Publikováno v:
Cancer Research
Shimelis, H, Mesman, R L S, Von Nicolai, C, Ehlen, A, Guidugli, L, Martin, C, Calléja, F M G R, Meeks, H, Hallberg, E, Hinton, J, Lilyquist, J, Hu, C, Aalfs, C M, Aittomäki, K, Andrulis, I, Anton-Culver, H, Arndt, V, Beckmann, M W, Benitez, J, Bogdanova, N V, Bojesen, S E, Bolla, M K, Borresen-Dale, A L, Brauch, H, Brennan, P, Brenner, H, Broeks, A, Brouwers, B, Brüning, T, Burwinkel, B, Chang-Claude, J, Chenevix-Trench, G, Cheng, C Y, Choi, J Y, Collée, J M, Cox, A, Cross, S S, Czene, K, Darabi, H, Dennis, J, Dörk, T, Dos-Santos-Silva, I, Dunning, A M, Fasching, P A, Figueroa, J, Flyger, H, García-Closas, M, Giles, G G, Glendon, G, Guénel, P, kConFab/AOCS Investigators & NBCS Collaborators 2017, ' BRCA2 hypomorphic missense variants confer moderate risks of breast cancer ', Cancer Research, vol. 77, no. 11, pp. 2789-2799 . https://doi.org/10.1158/0008-5472.CAN-16-2568
Shimelis, H, Mesman, R L S, Von Nicolai, C, Ehlen, A, Guidugli, L, Martin, C, Calleja, F M, Meeks, H, Hallberg, E, Hinton, J, Lilyquist, J, Hu, C, Aalfs, C M, Aittomaki, K, Andrulis, I L, Anton-culver, H, Arndt, V, Beckmann, M W, Benitez, J J, Bogdanova, N, Bojesen, S E, Bolla, M K, Borresen-dale, A, Brauch, H, Brenner, H, Broeks, A, Brouwers, B, Bruning, T, Burwinkel, B, Chang-claude, J, Chenevix-trench, G, Cheng, C, Choi, J, Collée, J M, Cox, A, Cross, S S, Czene, K, Darabi, H, Dennis, J, Dork, T, Dos Santos Silva, I, Dunning, A M, Fasching, P A, Figueroa, J D, Flyger, H, Garcia-closas, M, Giles, G G, Glendon, G, Guenel, P, Haiman, C A, Hall, P, Hamann, U, Hartman, M, Hogervorst, F B L, Hollestelle, A, Hopper, J L, Ito, H, Jakubowska, A, Kang, D, Kosma, V, Kristensen, V, Lai, K, Lambrechts, D, Le Marchand, L, Li, J, Lindblom, A, Lophatananon, A, Lubinski, J, Machackova, E, Mannermaa, A, Margolin, S, Marme, F, Matsuo, K, Miao, H, Michailidou, K, Milne, R L, Muir, K, Neuhausen, S L, Nevanlinna, H, Olson, J E, Olswold, C, Oosterwijk, J C, Osorio, A, Peterlongo, P, Peto, J, Pharoah, P D P, Pylkäs, K, Radice, P, Rashid, M U, Rhenius, V, Rudolph, A, Sangrajrang, S, Sawyer, E J, Schmidt, M K, Schoemaker, M J, Seynaeve, C M, Shah, M, Shen, C, Shrubsole, M J, Shu, X, Slager, S L, Southey, M C, Stram, D O, Swerdlow, A J, Teo, S H, Tomlinson, I, Torres, D, Truong, T, Van Asperen, C J, Van Der Kolk, L E, Wang, Q, Winqvist, R, Wu, A H, Yu, J, Zheng, W, Zheng, Y, Leary, J, Walker, L C, Foretova, L, Fostira, F, Claes, K, Varesco, L, Moghadasi, S, Easton, D F, Spurdle, A B, Devilee, P, Vrieling, H, Monteiro, A N, Goldgar, D E, Carreira, A, Vreeswijk, M P G & Couch, F J 2017, ' BRCA2 hypomorphic missense variants confer moderate risks of breast cancer ', Cancer Research, vol. 77, no. 11, pp. 2789-2799 . https://doi.org/10.1158/0008-5472.CAN-16-2568
Cancer Research, 77(11), 2789-2799. AMER ASSOC CANCER RESEARCH
Cancer Research, 77(11), 2789-2799. American Association for Cancer Research Inc.
Cancer research, 77(11), 2789-2799. American Association for Cancer Research Inc.
Cancer Research, 77(11), 2789-2799
Shimelis, H, Mesman, R L S, Von Nicolai, C, Ehlen, A, Guidugli, L, Martin, C, Calléja, F M G R, Meeks, H, Hallberg, E, Hinton, J, Lilyquist, J, Hu, C, Aalfs, C M, Aittomäki, K, Andrulis, I, Anton-Culver, H, Arndt, V, Beckmann, M W, Benitez, J, Bogdanova, N V, Bojesen, S E, Bolla, M K, Borresen-Dale, A L, Brauch, H, Brennan, P, Brenner, H, Broeks, A, Brouwers, B, Brüning, T, Burwinkel, B, Chang-Claude, J, Chenevix-Trench, G, Cheng, C Y, Choi, J Y, Collée, J M, Cox, A, Cross, S S, Czene, K, Darabi, H, Dennis, J, Dörk, T, Dos-Santos-Silva, I, Dunning, A M, Fasching, P A, Figueroa, J, Flyger, H, García-Closas, M, Giles, G G, Glendon, G, Guénel, P, kConFab/AOCS Investigators & NBCS Collaborators 2017, ' BRCA2 hypomorphic missense variants confer moderate risks of breast cancer ', Cancer Research, vol. 77, no. 11, pp. 2789-2799 . https://doi.org/10.1158/0008-5472.CAN-16-2568
Shimelis, H, Mesman, R L S, Von Nicolai, C, Ehlen, A, Guidugli, L, Martin, C, Calleja, F M, Meeks, H, Hallberg, E, Hinton, J, Lilyquist, J, Hu, C, Aalfs, C M, Aittomaki, K, Andrulis, I L, Anton-culver, H, Arndt, V, Beckmann, M W, Benitez, J J, Bogdanova, N, Bojesen, S E, Bolla, M K, Borresen-dale, A, Brauch, H, Brenner, H, Broeks, A, Brouwers, B, Bruning, T, Burwinkel, B, Chang-claude, J, Chenevix-trench, G, Cheng, C, Choi, J, Collée, J M, Cox, A, Cross, S S, Czene, K, Darabi, H, Dennis, J, Dork, T, Dos Santos Silva, I, Dunning, A M, Fasching, P A, Figueroa, J D, Flyger, H, Garcia-closas, M, Giles, G G, Glendon, G, Guenel, P, Haiman, C A, Hall, P, Hamann, U, Hartman, M, Hogervorst, F B L, Hollestelle, A, Hopper, J L, Ito, H, Jakubowska, A, Kang, D, Kosma, V, Kristensen, V, Lai, K, Lambrechts, D, Le Marchand, L, Li, J, Lindblom, A, Lophatananon, A, Lubinski, J, Machackova, E, Mannermaa, A, Margolin, S, Marme, F, Matsuo, K, Miao, H, Michailidou, K, Milne, R L, Muir, K, Neuhausen, S L, Nevanlinna, H, Olson, J E, Olswold, C, Oosterwijk, J C, Osorio, A, Peterlongo, P, Peto, J, Pharoah, P D P, Pylkäs, K, Radice, P, Rashid, M U, Rhenius, V, Rudolph, A, Sangrajrang, S, Sawyer, E J, Schmidt, M K, Schoemaker, M J, Seynaeve, C M, Shah, M, Shen, C, Shrubsole, M J, Shu, X, Slager, S L, Southey, M C, Stram, D O, Swerdlow, A J, Teo, S H, Tomlinson, I, Torres, D, Truong, T, Van Asperen, C J, Van Der Kolk, L E, Wang, Q, Winqvist, R, Wu, A H, Yu, J, Zheng, W, Zheng, Y, Leary, J, Walker, L C, Foretova, L, Fostira, F, Claes, K, Varesco, L, Moghadasi, S, Easton, D F, Spurdle, A B, Devilee, P, Vrieling, H, Monteiro, A N, Goldgar, D E, Carreira, A, Vreeswijk, M P G & Couch, F J 2017, ' BRCA2 hypomorphic missense variants confer moderate risks of breast cancer ', Cancer Research, vol. 77, no. 11, pp. 2789-2799 . https://doi.org/10.1158/0008-5472.CAN-16-2568
Cancer Research, 77(11), 2789-2799. AMER ASSOC CANCER RESEARCH
Cancer Research, 77(11), 2789-2799. American Association for Cancer Research Inc.
Cancer research, 77(11), 2789-2799. American Association for Cancer Research Inc.
Cancer Research, 77(11), 2789-2799
Breast cancer risks conferred by many germline missense variants in the BRCA1 and BRCA2 genes, often referred to as variants of uncertain significance (VUS), have not been established. In this study, associations between 19 BRCA1 and 33 BRCA2 missens
Autor:
Joanne L. Blum, Lutecia Pereira, Douglas F. Easton, Timothy R. Rebbeck, Frans B L Hogervorst, Javier Benítez, Fiona Douglas, Carol Chu, Susan Peock, Csilla Szabo, Fergus J. Couch, Brigitte Bressac-de Paillerets, Ute Hamann, Roni Milgrom, Maria A. Caligo, W. Hofmann, M. Barile, Patricia A. Ganz, Paolo Radice, Xiaoqing Chen, Radka Platte, Christian Sutter, Sylvie Mazoyer, Diana Eccles, Sue Healey, Corinne Capoulade, Amanda B. Spurdle, Violaine Bourdon, Jonathan Beesley, Gemma Llort, Alfons Meindl, Antonis Antoniou, Georgia Chenevix-Trench, Paolo Peterlongo, Olga M. Sinilnikova, Agnès Chompret, Claudine Isaacs, Ana Osorio, Claude Houdayer, Flavio Lejbkowicz, Susan L. Neuhausen, Peggy Manders, Mark H. Greene, Roger L. Milne, Gad Rennert, Henry T. Lynch, Eitan Friedman, Christoph Engel, Irene L. Andrulis, Gail E. Tomlinson, Rosalind A. Eeles, Dieter Niederacher, Marjolijn J L Ligtenberg, Hagay Sobol, Ofra Barnett-Griness, D. Gareth Evans, M. Cook, Gilbert M. Lenoir, Mary B. Daly, Hilmi Ozcelik, Ans M.W. van den Ouweland, François Eisinger, Beatrix Versmold, Bella Kaufman, Helmut Deissler, Trinidad Caldés, Rosemarie Davidson, Susan M. Domchek, Marion Gauthier-Villars, Gabriella Pichert, Dominique Stoppa-Lyonnet, Siranoush Manoukian, Andrew K. Godwin, Heli Nevanlinna, Norbert Arnold, Anne-Marie Gerdes, Olufunmilayo I. Olopade, Laure Barjhoux, Katherine L. Nathanson, Yael Laitman, Rita K. Schmutzler, Theresa Wagner, Jeffrey N. Weitzel, Karen A. Pooley, Kati Kämpjärvi, Jacques Simard
Publikováno v:
American Journal of Human Genetics, 82(4), 937-948. Cell Press
American Journal of Human Genetics, 82, 937-48
American Journal of Human Genetics, 82, 4, pp. 937-48
Antoniou, A C, Spurdle, A B, Sinilnikova, O M, Healey, S, Pooley, K A, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Arnold, N, Hofmann, W, Sutter, C, Niederacher, D, Deissler, H, Caldes, T, Kämpjärvi, K, Nevanlinna, H, Simard, J, Beesley, J, Chen, X, for Research into Familial Breast Cancer, K C, Neuhausen, S L, Rebbeck, T R, Wagner, T, Lynch, H T, Isaacs, C, Weitzel, J, Ganz, P A, Daly, M B, Tomlinson, G, Olopade, O I, Blum, J L, Couch, F J, Peterlongo, P, Manoukian, S, Barile, M, Radice, P, Szabo, C I, Pereira, L H M, Greene, M H, Rennert, G, Lejbkowicz, F, Barnett-Griness, O, Andrulis, I L, Ozcelik, H, Group, OCGN, Gerdes, A-M, Caligo, M A, Laitman, Y, Kaufman, B, Milgrom, R, Friedman, E, study collaborators, S BRCA A BRCA, Domchek, S M, Nathanson, K L, Osorio, A, Llort, G, Milne, R L, Benítez, J, Hamann, U, Hogervorst, F B L, Manders, P, Ligtenberg, M J L, van den Ouweland, A M W, collaborators, DNA-HEBON, Peock, S, Cook, M, Platte, R, Evans, D G, Eeles, R, Pichert, G, Chu, C, Eccles, D, Davidson, R, Douglas, F, Group, EMBRACE, Godwin, A K, Barjhoux, L, Mazoyer, S, Sobol, H, Bourdon, V, Eisinger, F, Chompret, A, Capoulade, C, Bressac-de Paillerets, B, Lenoir, G M, Gauthier-Villars, M, Houdayer, C, Stoppa-Lyonnet, D, Group, GEMO, Chenevix-Trench, G, Easton, D F & Group, CIMBA 2008, ' Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers ', American Journal of Human Genetics, vol. 82, no. 4, pp. 937-48 . https://doi.org/10.1016/j.ajhg.2008.02.008
American Journal of Human Genetics, 82, 937-48
American Journal of Human Genetics, 82, 4, pp. 937-48
Antoniou, A C, Spurdle, A B, Sinilnikova, O M, Healey, S, Pooley, K A, Schmutzler, R K, Versmold, B, Engel, C, Meindl, A, Arnold, N, Hofmann, W, Sutter, C, Niederacher, D, Deissler, H, Caldes, T, Kämpjärvi, K, Nevanlinna, H, Simard, J, Beesley, J, Chen, X, for Research into Familial Breast Cancer, K C, Neuhausen, S L, Rebbeck, T R, Wagner, T, Lynch, H T, Isaacs, C, Weitzel, J, Ganz, P A, Daly, M B, Tomlinson, G, Olopade, O I, Blum, J L, Couch, F J, Peterlongo, P, Manoukian, S, Barile, M, Radice, P, Szabo, C I, Pereira, L H M, Greene, M H, Rennert, G, Lejbkowicz, F, Barnett-Griness, O, Andrulis, I L, Ozcelik, H, Group, OCGN, Gerdes, A-M, Caligo, M A, Laitman, Y, Kaufman, B, Milgrom, R, Friedman, E, study collaborators, S BRCA A BRCA, Domchek, S M, Nathanson, K L, Osorio, A, Llort, G, Milne, R L, Benítez, J, Hamann, U, Hogervorst, F B L, Manders, P, Ligtenberg, M J L, van den Ouweland, A M W, collaborators, DNA-HEBON, Peock, S, Cook, M, Platte, R, Evans, D G, Eeles, R, Pichert, G, Chu, C, Eccles, D, Davidson, R, Douglas, F, Group, EMBRACE, Godwin, A K, Barjhoux, L, Mazoyer, S, Sobol, H, Bourdon, V, Eisinger, F, Chompret, A, Capoulade, C, Bressac-de Paillerets, B, Lenoir, G M, Gauthier-Villars, M, Houdayer, C, Stoppa-Lyonnet, D, Group, GEMO, Chenevix-Trench, G, Easton, D F & Group, CIMBA 2008, ' Common breast cancer-predisposition alleles are associated with breast cancer risk in BRCA1 and BRCA2 mutation carriers ', American Journal of Human Genetics, vol. 82, no. 4, pp. 937-48 . https://doi.org/10.1016/j.ajhg.2008.02.008
Contains fulltext : 70697.pdf (Publisher’s version ) (Closed access) Germline mutations in BRCA1 and BRCA2 confer high risks of breast cancer. However, evidence suggests that these risks are modified by other genetic or environmental factors that c
Autor:
Angelina Huseinovic, Marjanka K. Schmidt, Flora E. van Leeuwen, Nicola S. Russell, Annegien Broeks, Laura van 't Veer, Frans B. L. Hogervorst, Linde M. Braaf
Publikováno v:
Breast Cancer Research and Treatment
Heterozygous carriers of ATM mutations are at increased risk of breast cancer. In this case-control study, we evaluated the significance of germline ATM missense variants to the risk of contralateral breast cancer (CBC). We have determined the spectr
Autor:
Ian J, Majewski, Irma, Kluijt, Annemieke, Cats, Thomas S, Scerri, Daphne, de Jong, Roelof J C, Kluin, Samantha, Hansford, Frans B L, Hogervorst, Astrid J, Bosma, Ingrid, Hofland, Marcel, Winter, David, Huntsman, Jos, Jonkers, Melanie, Bahlo, René, Bernards
Publikováno v:
The Journal of pathology. 229(4)
Diffuse gastric cancers typically present as late-stage tumours and, as a result, the 5 year survival rate is poor. Some gastric cancers are hereditary and these tend to be of the diffuse type; 30-40% of hereditary diffuse gastric cancers (HDGCs) can
Autor:
Ramprasath Venkatachalam, Aline Haufe, Tracy Graham, Marielle E. van Gijn, Frans B. L. Hogervorst, Beate Betz, Hans K. Schackert, Lisenka E.L.M. Vissers, Matthias Kloor, Carli M. J. Tops, Iris D. Nagtegaal, Tsun Leung Chan, Verena Steinke, Julie O. Culver, J. Han van Krieken, Eveline J. Kamping, Elke Holinski-Feder, Nicoline Hoogerbrugge, Eveline Hoenselaar, Ans M.W. van den Ouweland, Renee C. Niessen, Nils Rahner, Monique Goossens, Danielle Bodmer, Monika Morak, Johan J.P. Gille, Marjolijn J L Ligtenberg, David J. Bunyan, Roland P. Kuiper, Ad Geurts van Kessel, Susanne Stemmler, Philip Kahl, Sapna Syngal, Pierre Hutter, B. Redeker
Publikováno v:
Kuiper, R P, Vissers, L E L M, Venkatachalam, R, Bodmer, D, Hoenselaar, E, Goossens, M, Haufe, A, Kamping, E, Niessen, R C, Hogervorst, F B L, Gille, J J P, Redeker, B, Tops, C M J, van Gijn, M E, van den Ouweland, A M W, Rahner, N, Steinke, V, Kahl, P, Holinski-Feder, E, Morak, M, Kloor, M, Stemmler, S, Betz, B, Hutter, P, Bunyan, D J, Syngal, S, Culver, J O, Graham, T, Chan, T L, Nagtegaal, I D, van Krieken, J H J M, Schackert, H K, Hoogerbrugge, N, van Kessel, A G & Ligtenberg, M J L 2011, ' Recurrence and Variability of Germline EPCAM Deletions in Lynch Syndrome ', Human Mutation, vol. 32, no. 4, pp. 407-414 . https://doi.org/10.1002/humu.21446
Human Mutation, 32(4), 407-414. Wiley
Human Mutation
Human Mutation, Wiley, 2011, 32 (4), pp.407. ⟨10.1002/humu.21446⟩
Human Mutation, 32, 407-14
Human Mutation, 32(4), 407-414. Wiley-Liss Inc.
Human Mutation, 32, 4, pp. 407-14
Human Mutation, 32(4), 407-414
Human mutation, 32(4), 407-414. Wiley-Liss Inc.
Human Mutation, 32(4), 407-414. Wiley
Human Mutation
Human Mutation, Wiley, 2011, 32 (4), pp.407. ⟨10.1002/humu.21446⟩
Human Mutation, 32, 407-14
Human Mutation, 32(4), 407-414. Wiley-Liss Inc.
Human Mutation, 32, 4, pp. 407-14
Human Mutation, 32(4), 407-414
Human mutation, 32(4), 407-414. Wiley-Liss Inc.
Contains fulltext : 96266.pdf (Publisher’s version ) (Closed access) Recently, we identified 3' end deletions in the EPCAM gene as a novel cause of Lynch syndrome. These truncating EPCAM deletions cause allele-specific epigenetic silencing of the n
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::acd9f0a3462e34cfe5b79e413b8e9225
https://research.vumc.nl/en/publications/3046c84c-09af-4327-8073-c1bd009a1583
https://research.vumc.nl/en/publications/3046c84c-09af-4327-8073-c1bd009a1583
Autor:
Encarna Gomez Garcia, Anja Wagner, Frans B. L. Hogervorst, Annemarie H. van der Hout, Hanne Meijers-Heijboer, Rolf H. Sijmons, Cora M. Aalfs, Leo P. ten Kate, Senno Verhoef, Fred H. Menko, Laura J. van't Veer, Margreet G. E. M. Ausems, Roelof Pruntel, Matti A. Rookus, Marielle W. G. Ruijs, Nicoline Hoogerbrugge, Irma Kluijt, Christi J. van Asperen
Publikováno v:
Journal of Medical Genetics, 47(6), 421-428. BMJ Publishing Group
Journal of medical genetics, 47(6), 421-428. BMJ Publishing Group
Journal of Medical Genetics, 47, 421-8
Ruijs, M W G, Verhoef, S, Rookus, M A, Pruntel, R, van der Hout, A H, Hogervorst, F B L, Kluijt, I, Sijmons, RH, Aalfs, C M, Wagner, A, Ausems, M G E M, Hoogerbrugge, N, van Asperen, C J, Garcia, E B G, Meijers-Heijboer, E J, ten Kate, L P, Menko, F H & van 't Veer, L J 2010, ' TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes ', Journal of Medical Genetics, vol. 47, no. 6, pp. 421-428 . https://doi.org/10.1136/jmg.2009.073429
JOURNAL OF MEDICAL GENETICS, 47(6), 421-428. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 47, 6, pp. 421-8
Journal of Medical Genetics, 47(6), 421-428
Journal of medical genetics, 47(6), 421-428. BMJ Publishing Group
Journal of Medical Genetics, 47, 421-8
Ruijs, M W G, Verhoef, S, Rookus, M A, Pruntel, R, van der Hout, A H, Hogervorst, F B L, Kluijt, I, Sijmons, RH, Aalfs, C M, Wagner, A, Ausems, M G E M, Hoogerbrugge, N, van Asperen, C J, Garcia, E B G, Meijers-Heijboer, E J, ten Kate, L P, Menko, F H & van 't Veer, L J 2010, ' TP53 germline mutation testing in 180 families suspected of Li-Fraumeni syndrome: mutation detection rate and relative frequency of cancers in different familial phenotypes ', Journal of Medical Genetics, vol. 47, no. 6, pp. 421-428 . https://doi.org/10.1136/jmg.2009.073429
JOURNAL OF MEDICAL GENETICS, 47(6), 421-428. BMJ PUBLISHING GROUP
Journal of Medical Genetics, 47, 6, pp. 421-8
Journal of Medical Genetics, 47(6), 421-428
Contains fulltext : 89059.pdf (Publisher’s version ) (Closed access) BACKGROUND Li-Fraumeni syndrome (LFS) is a rare autosomal dominant cancer predisposition syndrome. Most families fulfilling the classical diagnostic criteria harbour TP53 germline
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::111cbd6bb5c32db9db64906b0bcc5a52
https://hdl.handle.net/1887/108974
https://hdl.handle.net/1887/108974
Autor:
Hugo M. Horlings, Johannes L. Peterse, Priscilla Axwijk, Nicoline Hoogerbrugge, Ivon H. G. Tielen, Senno Verhoef, Simon A. Joosse, Erik H. van Beers, Frans B. L. Hogervorst, Petra M. Nederlof, Lodewyk F. A. Wessels, Marjolijn J L Ligtenberg
Publikováno v:
Breast Cancer Research and Treatment, 116, 479-89
Breast Cancer Research and Treatment, 116, 3, pp. 479-89
Breast Cancer Research and Treatment, 116, 3, pp. 479-89
Contains fulltext : 80533.pdf (Publisher’s version ) (Closed access) BACKGROUND: While new defects in BRCA1 are still being found, it is unclear whether current breast cancer diagnostics misses many BRCA1-associated cases. A reliable test that is a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a94e293b7e045f0a931b16e9a63d99a
http://hdl.handle.net/2066/80533
http://hdl.handle.net/2066/80533
Autor:
Susan McVety, Pierre Hutter, Ping Liang, William D. Foulkes, Philip H. Gordon, Lili Li, George Chong, Desirée du Sart, Rami Younan, Frans B. L. Hogervorst
Publikováno v:
Human mutation. 27(4)
A relatively high frequency of germ-line genomic rearrangements in MLH1 and MSH2 has been reported among Lynch Syndrome (HNPCC) patients from different ethnic populations. To investigate the underlying molecular mechanisms, we characterized the DNA b