Blar i forfatter "Chenevix-Trench, Georgia"

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    • Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset 

      Davidson, Aimee L.; Michailidou, Kyriaki; Parsons, Michael T.; Fortuno, Cristina; Bolla, Manjeet K.; Wang, Qin; Kristensen, Vessela N.; Sahlberg, Guro Kristine Kleivi; Børresen-Dale, Anne-Lise; Gram, Inger Torhild; Olsen, Karina Standahl; Engebråten, Olav; Naume, Bjørn; Geisler, Jürgen; Alnæs, Grethe Irene Grenaker; Dennis, Joe; Naven, Marc; Abubakar, Mustapha; Ahearn, Thomas U.; Alonso, M. Rosario; Andrulis, Irene L.; Antoniou, Antonis C.; Auvinen, Päivi; Behrens, Sabine; Bermisheva, Marina A.; Bogdanova, Natalia V.; Bojesen, Stig E.; Brüning, Thomas; Byers, Helen J.; Camp, Nicola J.; Campbell, Archie; Castelao, Jose E.; Cessna, Melissa H.; Chang-Claude, Jenny; Chanock, Stephen J.; Chenevix-Trench, Georgia; Collée, J. Margriet; Czene, Kamila; Dörk, Thilo; Eriksson, Mikael; Evans, D. Gareth; Fasching, Peter A.; Figueroa, Jonine D.; Flyger, Henrik; Gago-Dominguez, Manuela; García-Closas, Montserrat; Glendon, Gord; González-Neira, Anna; Grassmann, Felix; Gronwald, Jacek (Journal article; Tidsskriftartikkel; Peer reviewed, 2024-08-02)
      Co-observation of a gene variant with a pathogenic variant in another gene that explains the disease presentation has been designated as evidence against pathogenicity for commonly used variant classification guidelines. Multiple variant curation expert panels have specified, from consensus opinion, that this evidence type is not applicable for the classification of breast cancer predisposition gene ...

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

      Couch, Fergus J.; Kuchenbaecker, Karoline B.; Michailidou, Kyriaki; Mendoza-Fandino, Gustavo A.; Nord, Silje; Lilyquist, Janna; Olswold, Curtis; Hallberg, Emily; Agata, Simona; Ahsan, Habibul; Aittomäki, Kristiina; Ambrosone, Christine; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Arun, Banu K.; Arver, Brita; Barile, Monica; Barkardottir, Rosa; Barrowdale, Daniel; Beckmann, Lars; Beckmann, Matthias W.; Benitez, Javier; Blank, Stephanie V.; Blomqvist, Carl; Bogdanova, Natalia V.; Bojesen, Stig E.; Bolla, Manjeet K.; Bonanni, Bernardo; Brauch, Hiltrud; Brenner, Hermann; Burwinkel, Barbara; Buys, Saundra S.; Caldes, Trinidad; Caligo, Maria A.; Canzian, Federico; Carpenter, Jane; Chang-Claude, Jenny; Chanock, Stephen J.; Chung, Wendy K.; Claes, Kathleen B.M.; Cox, Angela; Cross, Simon S.; Cunningham, Julie M.; Czene, Kamila; Daly, Mary B.; Damiola, Francesca; Darabi, Hatef; De La Hoya, Miguel; Devilee, Peter; Diez, Orland; Ding, Yuan C.; Dolcetti, Riccardo; Domchek, Susan M.; Dorfling, Cecilia M.; Dos-Santos-Silva, Isabel; Dumont, Martine; Dunning, Alison M; Eccles, Diana M; Ehrencrona, Hans; Ekici, Arif B; Eliassen, Heather; Ellis, Steve; Fasching, Peter A; Figueroa, Jonine; Flesch-Janys, Dieter; Försti, Asta; Fostira, Florentia; Foulkes, William D; Friebel, Tara; Friedman, Eitan; Frost, Debra; Gabrielson, Marike; Gammon, Marilie D; Ganz, Patricia A; Gapstur, Susan M; Garber, Judy; Gaudet, Mia M; Gayther, Simon A; Gerdes, Anne-Marie; Ghoussaini, Maya; Giles, Graham G; Glendon, Gord; Godwin, Andrew K; Goldberg, Mark S; Goldgar, David E; Gonzalez-Neira, Anna; Greene, Mark H; Gronwald, Jacek; Guenel, Pascal; Gunter, Marc; Haeberle, Lothar; Haiman, Christopher A; Hamann, Ute; Hansen, Thomas V O; Hart, Steven; Healey, Sue; Heikkinen, Tuomas; Henderson, Brian E; Herzog, Josef; Hogervorst, Frans B L; Hollestelle, Antoinette; Hooning, Maartje J; Hoover, Robert N; Hopper, John L; Humphreys, Keith; Hunter, David J; Huzarski, Tomasz; Imyanitov, Evgeny N; Isaacs, Claudine; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; John, Esther M; Jones, Michael; Kabisch, Maria; Kar, Siddhartha; Karlan, Beth Y; Khan, Sofia; Khaw, Kay-Tee; Kibriya, Muhammad G; Knight, Julia A; Ko, Yon-Dschun; Konstantopoulou, Irene; Kosma, Veli-Matti; Kristensen, Vessela N.; Kwong, Ava; Laitman, Yael; Lambrechts, Diether; Lazaro, Conxi; Lee, Eunjung; Le Marchand, Loic; Lester, Jenny; Lindblom, Annika; Lindor, Noralane; Lindstrom, Sara; Liu, Jianjun; Long, Jirong; Lubinski, Jan; Mai, Phuong L; Makalic, Enes; Malone, Kathleen E; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Marme, Frederik; Martens, John W M; Mcguffog, Lesley; Meindl, Alfons; Miller, Austin; Milne, Roger L; Miron, Penelope; Montagna, Marco; Mazoyer, Sylvie; Mulligan, Anna M; Muranen, Taru A; Nathanson, Katherine L; Neuhausen, Susan L; Nevanlinna, Heli; Nordestgaard, Børge G; Nussbaum, Robert L; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I; Olson, Janet E; Osorio, Ana; Park, Sue K; Peeters, Petra H; Peissel, Bernard; Peterlongo, Paolo; Peto, Julian; Phelan, Catherine M; Pilarski, Robert; Poppe, Bruce; Pylkäs, Katri; Radice, Paolo; Rahman, Nazneen; Rantala, Johanna; Rappaport, Christine; Rennert, Gad; Richardson, Andrea; Robson, Mark; Romieu, Isabelle; Rudolph, Anja; Rutgers, Emiel J; Sanchez, Maria-Jose; Santella, Regina M; Sawyer, Elinor J; Schmidt, Daniel F; Schmidt, Marjanka K; Schmutzler, Rita K; Schumacher, Fredrick; Scott, Rodney; Senter, Leigha; Sharma, Priyanka; Simard, Jacques; Singer, Christian F; Sinilnikova, Olga M; Soucy, Penny; Southey, Melissa; Steinemann, Doris; Stenmark-Askmalm, Marie; Stoppa-Lyonnet, Dominique; Swerdlow, Anthony; Szabo, Csilla I; Tamimi, Rulla; Tapper, William; Teixeira, Manuel R; Teo, Soo-Hwang; Terry, Mary B; Thomassen, Mads; Thompson, Deborah; Tihomirova, Laima; Toland, Amanda E; Tollenaar, Robert A E M; Tomlinson, Ian; Truong, Thérèse; Tsimiklis, Helen; Teulé, Alex; Tumino, Rosario; Tung, Nadine; Turnbull, Clare; Ursin, Giske; Van Deurzen, Carolien H M; Van Rensburg, Elizabeth J; Varon-Mateeva, Raymonda; Wang, Zhaoming; Wang-Gohrke, Shan; Weiderpass, Elisabete; Weitzel, Jeffrey N; Whittemore, Alice; Wildiers, Hans; Winqvist, Robert; Yang, Xiaohong R; Yannoukakos, Drakoulis; Yao, Song; Zamora, M Pilar; Zheng, Wei; Hall, Per; Kraft, Peter; Vachon, Celine; Slager, Susan; Chenevix-Trench, Georgia; Pharoah, Paul D P; Monteiro, Alvaro A N; Garcia-Closas, Montserrat; Easton, Douglas F; Antoniou, Antonis C. (Journal article; Tidsskriftartikkel; Peer reviewed, 2016-04-27)
      Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10−8) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative ...

    • The impact of coding germline variants on contralateral breast cancer risk and survival 

      Morra, Anna; Mavaddat, Nasim; Muranen, Taru A.; Ahearn, Thomas U.; Allen, Jamie; Andrulis, Irene L.; Auvinen, Päivi; Becher, Heiko; Behrens, Sabine; Blomqvist, Carl; Bojesen, Stig E.; Bolla, Manjeet K.; Brauch, Hiltrud; Camp, Nicola J.; Carvalho, Sara; Castelao, Jose E.; Cessna, Melissa H.; Chang-Claude, Jenny; Chenevix-Trench, Georgia; Sahlberg, Guro Kristine Kleivi; Børresen-Dale, Anne-Lise; Gram, Inger Torhild; Olsen, Karina Standahl; Engebråten, Olav; Naume, Bjørn; Geisler, Jürgen; Grenaker, Grethe Irene; Czene, Kamila; Decker, Brennan; Dennis, Joe; Dörk, Thilo; Dorling, Leila; Dunning, Alison M.; Ekici, Arif B.; Eriksson, Mikael; Evans, D. Gareth; Fasching, Peter A.; Figueroa, Jonine D.; Flyger, Henrik; Gago-Dominguez, Manuela; García-Closas, Montserrat; Geurts-Giele, Willemina R.R.; Giles, Graham G.; Guénel, Pascal; Gündert, Melanie; Hahnen, Eric; Hall, Per; Hamann, Ute; Harrington, Patricia A.; He, Wei; Heikkilä, Päivi; Hooning, Maartje J.; Hoppe, Reiner; Howell, Anthony; Humphreys, Keith; Kristensen, Vessela N.; Mannermaa, Arto; Manoochehri, Mehdi; Manoukian, Siranoush; Margolin, Sara; Mavroudis, Dimitrios; Milne, Roger L.; Mulligan, Anna Marie; Newman, William G.; Park-Simon, Tjoung-Won; Peterlongo, Paolo; Pharoah, Paul D.P.; Rhenius, Valerie; Saloustros, Emmanouil; Sawyer, Elinor J.; Schmutzler, Rita K.; Shah, Mitul; Spurdle, Amanda B.; Tomlinson, Ian; Truong, Thérèse; van Veen, Elke M.; Vreeswijk, Maaike P.G.; Wang, Qin; Wendt, Camilla; Yang, Xiaohong R.; Nevanlinna, Heli; Devilee, Peter; Easton, Douglas F.; Schmidt, Marjanka K. (Journal article; Tidsskriftartikkel; Peer reviewed, 2023-02-23)
      Evidence linking coding germline variants in breast cancer (BC)-susceptibility genes other than BRCA1, BRCA2, and CHEK2 with contralateral breast cancer (CBC) risk and breast cancer-specific survival (BCSS) is scarce. The aim of this study was to assess the association of protein-truncating variants (PTVs) and rare missense variants (MSVs) in nine known (ATM, BARD1, BRCA1, BRCA2, CHEK2, PALB2, RAD51C, ...