Ovarian and Breast Cancer Risks Associated with Pathogenic Variants in RAD51C and RAD51D

Autor: Georgia Chenevix-Trench, Bernd Auber, Douglas F. Easton, Kristiina Aittomäki, Andy C. H. Lee, Ramunas Janavicius, Ana Vega, Paul D.P. Pharoah, Xin Yang, Liisa M. Pelttari, Malene Djursby, Eric Hahnen, Åke Borg, Mark E. Robson, Stephen B. Gruber, Susan J. Ramus, kConFab Investigators, Lisa Golmard, Ian Jacobs, Jill S. Dolinsky, Holly LaDuca, Karin Kast, Clare Turnbull, Fergus J. Couch, W. D. Foulkes, Thomas Hansen, Simon A. Gayther, Allan Jensen, Christoph Engel, Heli Nevanlinna, Ana Osorio, Jacek Gronwald, Judy Garber, Helen Hanson, Susanne K. Kjaer, Julie O. Culver, Goska Leslie, Ed Dicks, Honglin Song, Barbara Rivera, Richard S. Houlston, Anders Kvist, Estrid Høgdall, Antonis C. Antoniou, Dieter Niederacher, Nadia Traficante, Miguel de la Hoya, Rita K. Schmutzler, Alfons Meindl, Judit Horvath, Orland Diez, Adam N. Rosenthal, Laurent Castera, Chey Loveday, David D.L. Bowtell, Joe Dennis, Marc Tischkowitz, Susan M. Domchek, Judith Balmaña, Hans Ehrencrona, Usha Menon

Publikováno v: Yang, X, Song, H, Leslie, G, Engel, C, Hahnen, E, Auber, B, Horváth, J, Kast, K, Niederacher, DI, Turnbull, C, Houlston, R, Hanson, H, Loveday, C, Dolinsky, J S, Laduca, H, Ramus, S J, Menon, U, Rosenthal, A N, Jacobs, I, Gayther, S A, DIcks, E, Nevanlinna, H, Aittomäki, K, Pelttari, L M, Ehrencrona, H, Borg, Å, Kvist, A, Rivera, B, Hansen, T V O, Djursby, M, Lee, A, Dennis, J, Bowtell, D D, Traficante, N, DIez, O, Balmaña, J, Gruber, S B, Chenevix-Trench, G, Investigators, K, Jensen, A, Kjær, S K, Høgdall, E, Castéra, L, Garber, J, Janavicius, R, Osorio, A, Golmard, L, Vega, A, Couch, F J, Robson, M, Gronwald, J, Domchek, S M, Culver, J O, De La Hoya, M, Easton, D F, Foulkes, W D, Tischkowitz, M, Meindl, A, Schmutzler, R K, Pharoah, P D P & Antoniou, A C 2020, ' Ovarian and Breast Cancer Risks Associated with Pathogenic Variants in RAD51C and RAD51D ', Journal of the National Cancer Institute, vol. 112, no. 12, pp. 1242-1250 . https://doi.org/10.1093/jnci/djaa030
JNCI Journal of the National Cancer Institute

Background The purpose of this study was to estimate precise age-specific tubo-ovarian carcinoma (TOC) and breast cancer (BC) risks for carriers of pathogenic variants in RAD51C and RAD51D. Methods We analyzed data from 6178 families, 125 with pathog

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fb159409b45013d237b3f373d5acfafa
https://curis.ku.dk/portal/da/publications/ovarian-and-breast-cancer-risks-associated-with-pathogenic-variants-in-rad51c-and-rad51d(89c7e30a-d45d-4889-b1e4-587f2822ac48).html

Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Autor: Javier Benitez, Marie Stenmark-Askmalm, Susan L. Neuhausen, Pascal Guénel, Jane Carpenter, Christine B. Ambrosone, Dominique Stoppa-Lyonnet, Nadine Tung, Gad Rennert, Stephen J. Chanock, Andrew K. Godwin, Regina M. Santella, Brita Arver, Karoline Kuchenbaecker, Kamila Czene, Vessela N. Kristensen, Natalia Bogdanova, Nazneen Rahman, Jianjun Liu, Federico Canzian, Hoda Anton-Culver, Maya Ghoussaini, Mark E. Robson, Sue K. Park, Manjeet K. Bolla, Roger L. Milne, Veli-Matti Kosma, Siranoush Manoukian, Angela Cox, Daniel F. Schmidt, Kay-Tee Khaw, Rosario Tumino, Melissa C. Southey, Ramunas Janavicius, Irene Konstantopoulou, Carl Blomqvist, John L. Hopper, Sue Healey, Christine Rappaport, Marco Montagna, SA Gayther, Heather Eliassen, Carolien H.M. van Deurzen, Jacques Simard, Emiel J. Rutgers, Jonine Figueroa, Maria A. Caligo, Volker Arndt, Sylvie Mazoyer, Diana Eccles, M.J. Hooning, Antoinette Hollestelle, Mary B. Daly, Robert Winqvist, Antonis C. Antoniou, Patricia A. Ganz, Orland Diez, Priyanka Sharma, Ana Osorio, Daniel Barrowdale, Loic Le Marchand, Drakoulis Yannoukakos, Elinor J. Sawyer, Conxi Lázaro, Soo-Hwang Teo, Penny Soucy, Paolo Radice, John W. M. Martens, Steve Ellis, David E. Goldgar, Anna Jakubowska, Maria Kabisch, Raymonda Varon-Mateeva, Diether Lambrechts, Paul D.P. Pharoah, Leigha Senter, Anna González-Neira, Cecilia M. Dorfling, Brian E. Henderson, Rulla M. Tamimi, Sara Margolin, Susan M. Gapstur, Ian Tomlinson, Thérèse Truong, Robert A.E.M. Tollenaar, Amanda E. Toland, Anna Marie Mulligan, Irene L. Andrulis, Isabelle Romieu, Monica Barile, Florentia Fostira, Johanna Rantala, Enes Makalic, Eitan Friedman, Zhaoming Wang, Mark H. Greene, Noralane M. Lindor, Julie M. Cunningham, Riccardo Dolcetti, Steven N. Hart, Mary Beth Terry, Jenny Chang-Claude, Austin Miller, Georgia Chenevix-Trench, Asta Försti, Kathleen E. Malone, Paolo Peterlongo, Lothar Haeberle, Celine M. Vachon, Elizabeth J. van Rensburg, Michael Jones, Laima Tihomirova, Penelope Miron, Eunjung Lee, María José Sánchez, Hatef Darabi, Frans B. L. Hogervorst, Matthias W. Beckmann, Edith Olah, Annika Lindblom, Phuong L. Mai, Emily Hallberg, Alison M. Dunning, Kathleen Claes, Esther M. John, Sofia Khan, David J. Hunter, Kristiina Aittomäki, Katherine L. Nathanson, Lars Beckmann, Stephanie V. Blank, Wei Zheng, Olufunmilayo I. Olopade, Heli Nevanlinna, Miguel de la Hoya, Olga M. Sinilnikova, Bruce Poppe, Catherine M. Phelan, S. Lindstrom, Stig E. Bojesen, Curtis Olswold, Fredrick R. Schumacher, Janet E. Olson, Tuomas Heikkinen, Judy Garber, Fergus J. Couch, Tara M. Friebel, Isabel dos-Santos-Silva, Douglas F. Easton, Song Yao, Dieter Flesch-Janys, Hans Ehrencrona, Simon S. Cross, Rodney J. Scott, Kenneth Offit, Petra H.M. Peeters, Clare Turnbull, Taru A. Muranen, William J. Tapper, Trinidad Caldés, Jenny Lester, Robert L. Nussbaum, Paul A. James, Marike Gabrielson, Susan M. Domchek, Mads Thomassen, Marilie D. Gammon, Susan L. Slager, Graham G. Giles, Silje Nord, Hans Wildiers, Hiltrud Brauch, Gustavo Mendoza-Fandiño, Christopher A. Haiman, Martine Dumont, Mark S. Goldberg, Bernardo Bonanni, Jirong Long, Kyriaki Michailidou, Ute Hamann, Wendy K. Chung, Marc J. Gunter, Mia M. Gaudet, Keith Humphreys, Per Hall, Yuan C. Ding, Simona Agata, Julia A. Knight, Robert Pilarski, Claudine Isaacs, Alvaro A.N. Monteiro, Montserrat Garcia-Closas, Rosa B. Barkardottir, Beth Y. Karlan, Uffe Birk Jensen, Arif B. Ekici, Evgeny N. Imyanitov, Alex Teulé, Anne-Marie Gerdes, Frederik Marme, Debra Frost, Anthony J. Swerdlow, Yon Ko, Xiaohong R. Yang, Jan Lubinski, Peter A. Fasching, Lesley McGuffog, Jacek Gronwald, Katri Pylkäs, Banu Arun, Josef Herzog, Gord Glendon, Doris Steinemann, Tomasz Huzarski, Peter Kraft, Anja Rudolph, Arto Mannermaa, Habibul Ahsan, Christian F. Singer, Rita K. Schmutzler, Julian Peto, Giski Ursin, Shan Wang-Gohrke, Andrea L. Richardson, Jeffrey N. Weitzel, Børge G. Nordestgaard, Marjanka K. Schmidt, Alice S. Whittemore, Hermann Brenner, Barbara Burwinkel, D Thompson, Csilla I. Szabo, M. Pilar Zamora, Janna Lilyquist, Muhammad G. Kibriya, Yael Laitman, Helen Tsimiklis, W. D. Foulkes, Thomas Hansen, Francesca Damiola, Robert N. Hoover, Ava Kwong, Alfons Meindl, Siddhartha Kar, Manuel R. Teixeira, Elisabete Weiderpass, Bernard Peissel, Saundra S. Buys, Peter Devilee

Publikováno v: Couch, F J, Kuchenbaecker, K B, Michailidou, K, Mendoza-Fandino, G A, Nord, S, Lilyquist, J, Olswold, C, Hallberg, E, Agata, S, Ahsan, H, Aittomäki, K, Ambrosone, C, Andrulis, I L, Anton-Culver, H, Arndt, V, Arun, B K, Arver, B, Barile, M, Barkardottir, R B, Barrowdale, D, Beckmann, L, Beckmann, M W, Benítez, J, Blank, S V, Blomqvist, C, Bogdanova, N V, Bojesen, S E, Bolla, M K, Bonanni, B, Brauch, H, Brenner, H, Burwinkel, B, Buys, S, Caldes, T, Caligo, M A, Canzian, F, Carpenter, J, Chang-Claude, J, Chanock, S J, Chung, W K, Claes, K B M, Cox, A, Cross, S S, Cunningham, J M, Czene, K, Daly, M B, Damiola, F, Darabi, H, de la Hoya, M, Devilee, P, Díez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Dos Santos Silva, I, Dumont, M, Dunning, A M, Eccles, D M, Ehrencrona, H, Ekici, A B, Eliassen, H, Ellis, S, Fasching, P A, Figueroa, J, Flesch-Janys, D, Försti, A, Fostira, F, Foulkes, W D, Friebel, T M, Friedman, E, Frost, D, Gabrielson, M, Gammon, M D, Ganz, P A, Gapstur, S M, Garber, J, Gaudet, M, Gayther, S A, Gerdes, A-M, Ghoussaini, M, Giles, G, Glendon, G, Godwin, A K, Goldberg, M S, Goldgar, D E, González-Neira, A, Greene, M H, Gronwald, J, Guénel, P, Gunter, M J, Haeberle, L, Haiman, C A, Hamann, U, Hansen, T V O, Hart, S, Healey, S, Heikkinen, T, Henderson, B E, Herzog, J, Hogervorst, F B L, Hollestelle, A, Hooning, M J, Hoover, R N, Hopper, J L, Humphreys, K, Hunter, D J, Huzarski, T, Imyanitov, E N, Isaacs, C, Jakubowska, A, James, P A, Janavicius, R, Jensen, U B, John, E M, Jones, M, Kabisch, M, Kar, S, Karlan, B Y, Khan, S, Khaw, K-T, Kibriya, M G, Knight, J A, Ko, Y-D, Konstantopoulou, I, Kosma, V-M, Kristensen, V, Kwong, A, Laitman, Y, Lambrechts, D, Lázaro, C, Lee, E, Le Marchand, L, Lester, J, Lindblom, A, Lindor, N, Lindstrom, S, Liu, J, Long, J, Lubinski, J, Mai, P L, Makalic, E, Malone, K E, Mannermaa, A, Manoukian, S, Margolin, S, Marme, F, Martens, J W M, McGuffog, L, Meindl, A, Miller, A, Milne, R L, Miron, P, Montagna, M, Mazoyer, S, Mulligan, A M, Muranen, T A, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Nordestgaard, B G, Nussbaum, R L, Offit, K, Olah, E, Olopade, O I, Olson, J E, Osorio, A, Park, S K, Peeters, P H M, Peissel, B, Peterlongo, P, Peto, J, Phelan, C M, Pilarski, R, Poppe, B, Pylkäs, K, Radice, P, Rahman, N, Rantala, J, Rappaport, C, Rennert, G, Richardson, A, Robson, M, Romieu, I, Rudolph, A, Rutgers, E J, Sánchez, M-J, Santella, R M, Sawyer, E J, Schmidt, D F, Schmidt, M K, Schmutzler, R K, Schumacher, F, Scott, R J, Senter, L, Sharma, P, Simard, J, Singer, C F, Sinilnikova, O M, Soucy, P, Southey, M, Steinemann, D, Stenmark Askmalm, M, Stoppa-Lyonnet, D, Swerdlow, A, Szabo, C I, Tamimi, R, Tapper, W, Teixeira, M R, Teo, S-H, Terry, M B, Thomassen, M, Thompson, D J, Tihomirova, L, Toland, A E, Tollenaar, R A E M, Tomlinson, I, Truong, T, Tsimiklis, H, Teulé, A, Tumino, R, Tung, N, Turnbull, C, Ursin, G, van Deurzen, C H M, van Rensburg, E J, Varon-Mateeva, R, Wang, Z, Wang-Gohrke, S, Weiderpass, E, Weitzel, J N, Whittemore, A S, Wildiers, H, Winqvist, R, Yang, X R, Yannoukakos, D, Yao, S, Zamora, M P, Zheng, W, Hall, P, Kraft, P, Vachon, C, Slager, S, Chenevix-Trench, G, Pharoah, P D P, Monteiro, A N A, Garcia-Closas, M, Easton, D F & Antoniou, A C 2016, ' Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer ', Nature Communications, vol. 7, 11375 . https://doi.org/10.1038/ncomms11375
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Nature Communications, 7
Tomlinson, I 2016, ' Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer ', Nature Communications, vol. 7, 11375 . https://doi.org/10.1038/ncomms11375
Nature Communications, Vol 7, Iss 1, Pp 1-13 (2016)
Nature Communications [E], 7. Nature Publishing Group
Couch, F J, Kuchenbaecker, K B, Michailidou, K, Mendoza-Fandino, G A, Nord, S, Lilyquist, J, Olswold, C, Hallberg, E, Agata, S, Ahsan, H, Aittomäki, K, Ambrosone, C, Andrulis, I L, Anton-Culver, H, Arndt, V, Arun, B K, Arver, B, Barile, M, Barkardottir, R B, Barrowdale, D, Beckmann, L, Beckmann, M W, Benitez, J, Blank, S V, Blomqvist, C, Bogdanova, N V, Bojesen, S E, Bolla, M K, Bonanni, B, Brauch, H, Brenner, H, Burwinkel, B, Buys, S S, Caldes, T, Caligo, M A, Canzian, F, Carpenter, J, Chang-Claude, J, Chanock, S J, Chung, W K, Claes, K B M, Cox, A, Cross, S S, Cunningham, J M, Czene, K, Daly, M B, Damiola, F, Darabi, H, de la Hoya, M, Devilee, P, Diez, O, Ding, Y C, Dolcetti, R, Domchek, S M, Dorfling, C M, Dos-Santos-Silva, I, Dumont, M, Dunning, A M, Eccles, D M, Ehrencrona, H, Ekici, A B, Eliassen, H, Ellis, S, Fasching, P A, Figueroa, J, Flesch-Janys, D, Försti, A, Fostira, F, Foulkes, W D, Friebel, T, Friedman, E, Frost, D, Gabrielson, M, Gammon, M D, Ganz, P A, Gapstur, S M, Garber, J, Gaudet, M M, Gayther, S A, Gerdes, A-M, Ghoussaini, M, Giles, G G, Glendon, G, Godwin, A K, Goldberg, M S, Goldgar, D E, González-Neira, A, Greene, M H, Gronwald, J, Guénel, P, Gunter, M, Haeberle, L, Haiman, C A, Hamann, U, Hansen, T V O, Hart, S, Healey, S, Heikkinen, T, Henderson, B E, Herzog, J, Hogervorst, F B L, Hollestelle, A, Hooning, M J, Hoover, R N, Hopper, J L, Humphreys, K, Hunter, D J, Huzarski, T, Imyanitov, E N, Isaacs, C, Jakubowska, A, James, P, Janavicius, R, Jensen, U B, John, E M, Jones, M, Kabisch, M, Kar, S, Karlan, B Y, Khan, S, Khaw, K-T, Kibriya, M G, Knight, J A, Ko, Y-D, Konstantopoulou, I, Kosma, V-M, Kristensen, V, Kwong, A, Laitman, Y, Lambrechts, D, Lazaro, C, Lee, E, Le Marchand, L, Lester, J, Lindblom, A, Lindor, N, Lindstrom, S, Liu, J, Long, J, Lubinski, J, Mai, P L, Makalic, E, Malone, K E, Mannermaa, A, Manoukian, S, Margolin, S, Marme, F, Martens, J W M, McGuffog, L, Meindl, A, Miller, A, Milne, R L, Miron, P, Montagna, M, Mazoyer, S, Mulligan, A M, Muranen, T A, Nathanson, K L, Neuhausen, S L, Nevanlinna, H, Nordestgaard, B G, Nussbaum, R L, Offit, K, Olah, E, Olopade, O I, Olson, J E, Osorio, A, Park, S K, Peeters, P H, Peissel, B, Peterlongo, P, Peto, J, Phelan, C M, Pilarski, R, Poppe, B, Pylkäs, K, Radice, P, Rahman, N, Rantala, J, Rappaport, C, Rennert, G, Richardson, A, Robson, M, Romieu, I, Rudolph, A, Rutgers, E J, Sanchez, M-J, Santella, R M, Sawyer, E J, Schmidt, D F, Schmidt, M K, Schmutzler, R K, Schumacher, F, Scott, R, Senter, L, Sharma, P, Simard, J, Singer, C F, Sinilnikova, O M, Soucy, P, Southey, M, Steinemann, D, Stenmark-Askmalm, M, Stoppa-Lyonnet, D, Swerdlow, A, Szabo, C I, Tamimi, R, Tapper, W, Teixeira, M R, Teo, S-H, Terry, M B, Thomassen, M, Thompson, D, Tihomirova, L, Toland, A E, Tollenaar, R A E M, Tomlinson, I, Truong, T, Tsimiklis, H, Teulé, A, Tumino, R, Tung, N, Turnbull, C, Ursin, G, van Deurzen, C H M, van Rensburg, E J, Varon-Mateeva, R, Wang, Z, Wang-Gohrke, S, Weiderpass, E, Weitzel, J N, Whittemore, A, Wildiers, H, Winqvist, R, Yang, X R, Yannoukakos, D, Yao, S, Zamora, M P, Zheng, W, Hall, P, Kraft, P, Vachon, C, Slager, S, Chenevix-Trench, G, Pharoah, P D P, Monteiro, A A N, García-Closas, M, Easton, D F & Antoniou, A C 2016, ' Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer ', Nature Communications, vol. 7, 11375 . https://doi.org/10.1038/ncomms11375
Nature Communications, 7:11375. Nature Publishing Group
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Dipòsit Digital de la UB
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Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P
B.C.A.C. was funded through a European Community Seventh Framework Programme under grant agreement no 223175 (HEALT

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a19e82c8ff727df0e7e00c7ec91bf4c8
https://doi.org/10.1038/ncomms11375

Primary intracranial sarcoma, DICER1-mutant.

Autor: D. A., Solomon, S., Alexandrescu, W. D., Foulkes, C., Haberler, A., Huang, C., Kölsche, M., Kool, B. A., Orr, S. M., Pfister, D., Sturm, A., von Deimling, K., von Hoff

Publikováno v: WHO/IARC Classification of Tumours; 2021, Vol. 6, p323-325, 3p

Characterization of a novel founder MSH6 mutation causing Lynch syndrome in the French Canadian population

Autor: E, Castellsagué, J, Liu, A, Volenik, S, Giroux, R, Gagné, B, Maranda, A, Roussel-Jobin, J, Latreille, R, Laframboise, L, Palma, L, Kasprzak, V A, Marcus, M, Breguet, S, Nolet, Z, El-Haffaf, K, Australie, A, Gologan, O, Aleynikova, K, Oros-Klein, C, Greenwood, A M, Mes-Masson, D, Provencher, M, Tischkowitz, G, Chong, F, Rousseau, W D, Foulkes

Publikováno v: Clinical genetics. 87(6)

We identified an MSH6 mutation (c.10CT, p.Gln4*) causing Lynch syndrome (LS) in 11 French Canadian (FC) families from the Canadian province of Quebec. We aimed to investigate the molecular and clinical implications of this mutation among FC carriers

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::d32a22d4fa25ed4ea26c8134f8a4aefc
https://pubmed.ncbi.nlm.nih.gov/25318681

Segregation analysis of squamous cell carcinoma of the head and neck: evidence for a major gene determining risk

Autor: M. DE ANDRADE, C. I. AMOS, W. D. FOULKES

Publikováno v: Annals of Human Genetics. 62:505-510

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6e7dcfbf07f0afb5b6406dad0d576826
https://doi.org/10.1017/s0003480099007204