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by Bojesen, Stig E and Pooley, Karen A and Johnatty, Sharon E and Beesley, Jonathan and Michailidou, Kyriaki and Tyrer, Jonathan P and Edwards, Stacey L and Pickett, Hilda A and Shen, Howard C and Smart, Chanel E and Hillman, Kristine M and Mai, Phuong L and Lawrenson, Kate and Stutz, Michael D and Lu, Yi and Karevan, Rod and Woods, Nicholas and Johnston, Rebecca L and French, Juliet D and Chen, Xiaoqing and Weischer, Maren and Nielsen, Sune F and Maranian, Melanie J and Ghoussaini, Maya and Ahmed, Shahana and Baynes, Caroline and Bolla, Manjeet K and Wang, Qin and Dennis, Joe and McGuffog, Lesley and Barrowdale, Daniel and Lee, Anew and Healey, Sue and Lush, Michael and Tessier, Daniel C and Vincent, Daniel and Bacot, Françis and Vergote, Ignace and Lambrechts, Sanina and Despierre, Evelyn and Risch, Harvey A and González-Neira, Anna and Rossing, Mary Anne and Pita, Guillermo and Doherty, Jennifer A and Alvarez, Nuria and Larson, Melissa C and Fridley, Brooke L and Schoof, Nils and Chang-Claude, Jenny and Cicek, Mine S and Peto, Julian and Kalli, Kimberly R and Broeks, Annegien and Armasu, Sebastian M and Schmidt, Marjanka K and Braaf, Linde M and Winterhoff, Boris and Nevanlinna, Heli and Konecny, Gottfried E and Lambrechts, Diether and Rogmann, Lisa and Guénel, Pascal and Teoman, Attila and Milne, Roger L and Garcia, Joaquin J and Cox, Angela and Shridhar, Vijayalakshmi and Burwinkel, Barbara and Marme, Frederik and Hein, Rebecca and Sawyer, Elinor J and Haiman, Christopher A and Wang-Gohrke, Shan and Anulis, Irene L and Moysich, Kirsten B and Hopper, John L and Odunsi, Kunle and Lindblom, Annika and Giles, Graham G and Brenner, Hermann and Simard, Jacques and Lurie, Galina and Fasching, Peter A and Carney, Michael E and Radice, Paolo and Wilkens, Lynne R and Swerdlow, Anthony and Goodman, Marc T and Brauch, Hiltrud and Garcia-Closas, Montserrat and Hillemanns, Peter and Winqvist, Robert and Dürst, Matthias and Devilee, Peter and Runnebaum, Ingo and Jakubowska, Anna and Lubinski, Jan and Mannermaa, Arto and Butzow, Ralf and ... and Gene Environm Interactimi Breast and Kathleen Cuningham Fdn Consortium and Australian Ovarian Canc Study and Epidemiological Study BRCA1 and Hereditary Breast Ovarian Canc Res and Genetic Modifiers Canc Risk BRCA1 and Australian Canc Study and Swedish Breast Canc Study SWE-BRCA and The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON) and Genetic Modifiers of Cancer Risk in BRCA1/2 Mutation Carriers (GEMO) and Gene Environment Interaction and Breast Cancer (GENICA) and Swedish Breast Cancer Study (SWE-BRCA) and Epidemiological study of BRCA1 & BRCA2 Mutation Carriers (EMBRACE) and Australian Ovarian Cancer Study and Australian Cancer Study and Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab) and Medicinska fakulteten and Umeå universitet and Institutionen för strålningsvetenskaper
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 4, pp. 371 - 384
Journal Article
by Garcia-Closas, Montserrat and Couch, Fergus J and Lindstrom, Sara and Michailidou, Kyriaki and Schmidt, Marjanka K and Brook, Mark N and Orr, Nick and Rhie, Suhn Kyong and Riboli, Elio and Feigelson, Heather S and Le Marchand, Loic and Buring, Julie E and Eccles, Diana and Miron, Penelope and Fasching, Peter A and Brauch, Hiltrud and Chang-Claude, Jenny and Carpenter, Jane and Godwin, Anew K and Nevanlinna, Heli and Giles, Graham G and Cox, Angela and Hopper, John L and Bolla, Manjeet K and Wang, Qin and Dennis, Joe and Dicks, Ed and Howat, Will J and Schoof, Nils and Bojesen, Stig E and Lambrechts, Diether and Broeks, Annegien and Anulis, Irene L and Guénel, Pascal and Burwinkel, Barbara and Sawyer, Elinor J and Hollestelle, Antoinette and Fletcher, Olivia and Winqvist, Robert and Brenner, Hermann and Mannermaa, Arto and Hamann, Ute and Meindl, Alfons and Lindblom, Annika and Zheng, Wei and Devillee, Peter and Goldberg, Mark S and Lubinski, Jan and Kristensen, Vessela and Swerdlow, Anthony and Anton-Culver, Hoda and Dörk, Thilo and Muir, Kenneth and Matsuo, Keitaro and Wu, Anna H and Radice, Paolo and teo, Soo Hwang and Shu, Xiao-Ou and Blot, William and Kang, Daehee and Hartman, Mikael and Sangrajrang, Suleeporn and Shen, Chen-Yang and Southey, Melissa C and Park, Daniel J and Hammet, Fleur and Stone, Jennifer and Veer, Laura J. Van't and Rutgers, Emiel J and Lophatananon, Artitaya and Stewart-Brown, Sarah and Siriwanarangsan, Pornthep and Peto, Julian and Schrauder, Michael G and Ekici, Arif B and Beckmann, Matthias W and dos Santos Silva, Isabel and Johnson, Nichola and Warren, Helen and Tomlinson, Ian and Kerin, Michael J and Miller, Nicola and Marme, Federick and Schneeweiss, Aneas and Sohn, Christof and Truong, Therese and Laurent-Puig, Pierre and Kerbrat, Pierre and Nordestgaard, Børge G and Nielsen, Sune F and Flyger, Henrik and Milne, Roger L and Perez, Jose Ignacio Arias and Menéndez, Primitiva and Müller, Heiko and Arndt, Volker and Stegmaier, Christa and Lichtner, Peter and Lochmann, Magdalena and Justenhoven, Christina and ... and KConFab Investigators and Gene ENvironm Interaction Breast and Familial Breast Canc Study FBCS and Australian Breast Canc Tissue Bank and kConFab Investigators and Familial Breast Cancer Study (FBCS) and Australian Breast Cancer Tissue Bank (ABCTB) Investigators and Gene ENvironmental Interaction and breast CAncer (GENICA) Network and The Gene ENvironmental Interaction and breast CAncer (GENICA) Network
Nature genetics, ISSN 1061-4036, 2013, Volume 45, Issue 4, pp. 392 - 398
Journal Article
by Kuchenbaecker, Karoline and Ramus, Susan and Tyrer, Jonathan and Lee, Anew and Shen, Howard C and Beesley, Jonathan and Lawrenson, Kate and McGuffog, Lesley and Healey, Sue and Lee, Janet M and Spindler, Tassja J and Lin, Yvonne G and Pejovic, Tanja and Bean, Yukie and Li, Qiyuan and Coetzee, Simon and Hazelett, Dennis and Miron, Alexander and Southey, Melissa and Terry, Mary Beth and Goldgar, David and Buys, Sauna and Janavicius, Ramunas and Dorfling, Cecilia and Rensburg, Elizabeth and Neuhausen, Susan and Ding, Yuan and Hansen, Thomas and Jønson, Lars and Gerdes, Anne-Marie and Ejlertsen, Bent and Barrowdale, Daniel and Dennis, Joe and Benítez, Javier and Osorio, Ana and Garcia, Maria Jose and Komenaka, Ian and Weitzel, Jeffrey and Ganschow, Pamela and Peterlongo, Paolo and Bernard, Loris and Viel, Alessana and Bonnani, Bernardo and Peissel, Bernard and Manoukian, Siranoush and Radice, Paolo and Papi, Laura and Ottini, Laura and Fostira, Florentia and Konstantopoulou, I and Garber, Judy and Frost, Debra and Perkins, Jo and Platte, Radka and Ellis, Steve and Godwin, Anew K and Schmutzler, Rita and Meindl, Alfons and Engel, Christoph and Sutter, Christian and Sinilnikova, Olga and Damiola, Francesca and Mazoyer, Sylvie and Stoppa-Lyonnet, Dominique and Claes, Kathleen B.M and De Leeneer, Kim and Kirk, Judy and Roiguez, Gustavo and Piedmonte, Marion and O'Malley, David M and Hoya, Miguel and Caldes, Trinidad and Aittomäki, Kristiina and Nevanlinna, Heli and Margriet, J. Collée and Rookus, Matti and Oosterwijk, Jan and Tihomirova, Laima and Tung, Nadine and Hamann, Ute and Isaccs, Claudine and Tischkowitz, Marc and Imyanitov, Evgeny and Caligo, Maria and Campbell, Ian and Hogervorst, Frans and Olah, E and Díez, Orland and Blanco, Ignacio and Brunet, Joan and Lazaro, Conxi and Pujana, Miguel and Jakubowska, Anna and Gronwald, Jacek and Lubinski, Jan and Sukiennicki, Grzegorz and Barkardottir, Rosa and Plante, Marie and Simard, Jacques and Soucy, Penny and ... and KConFab Investigators and EMBRACE and GEMO Study Collaborators and Breast Cancer Family Registry and Australian Ovarian Canc Study Grp and HEBON and Consortium Invest Modifiers BRCA1 and Australian Canc Study Ovarian Canc and Australian Cancer Study (Ovarian Cancer Investigators) and Australian Ovarian Cancer Study Group and Consortium of Investigators of Modifiers of BRCA1 and BRCA2 and the Consortium of Investigators of Modifiers of BRCA1 and BRCA2 and Region Östergötland and Linköpings universitet and Institutionen för klinisk och experimentell medicin and Diagnostikcentrum and Klinisk patologi och klinisk genetik and Avdelningen för kliniska vetenskaper and Hälsouniversitetet
Nature Genetics, ISSN 1061-4036, 01/2015, Volume 47, Issue 2, pp. 164 - 171
Journal Article
by Southey, Melissa C and Goldgar, David E and Winqvist, Robert and Pylkäs, Katri and Couch, Fergus and Tischkowitz, Marc and Foulkes, William D and Dennis, Joe and Michailidou, Kyriaki and van Rensburg, Elizabeth J and Heikkinen, Tuomas and Nevanlinna, Heli and Hopper, John L and Dörk, Thilo and Claes, Kathleen BM and Reis-Filho, Jorge and Teo, Zhi Ling and Radice, Paolo and Catucci, Irene and Peterlongo, Paolo and Tsimiklis, Helen and Odefrey, Fabrice A and Dowty, James G and Schmidt, Marjanka K and Broeks, Annegien and Hogervorst, Frans B and Verhoef, Senno and Carpenter, Jane and Clarke, Christine and Scott, Rodney J and Fasching, Peter A and Haeberle, Lothar and Ekici, Arif B and Beckmann, Matthias W and Peto, Julian and dos-Santos-Silva, Isabel and Fletcher, Olivia and Johnson, Nichola and Bolla, Manjeet K and Sawyer, Elinor J and Tomlinson, Ian and Kerin, Michael J and Miller, Nicola and Marme, Federik and Burwinkel, Barbara and Yang, Rongxi and Guénel, Pascal and Truong, Thérèse and Menegaux, Florence and Sanchez, Marie and Bojesen, Stig and Nielsen, Sune F and Flyger, Henrik and Benitez, Javier and Zamora, M Pilar and Perez, Jose Ignacio Arias and Menéndez, Primitiva and Anton-Culver, Hoda and Neuhausen, Susan and Ziogas, Argyrios and Clarke, Christina A and Brenner, Hermann and Arndt, Volker and Stegmaier, Christa and Brauch, Hiltrud and Brüning, Thomas and Ko, Yon-Dschun and Muranen, Taru A and Aittomäki, Kristiina and Blomqvist, Carl and Bogdanova, Natalia V and Antonenkova, Natalia N and Lindblom, Annika and Margolin, Sara and Mannermaa, Arto and Kataja, Vesa and Kosma, Veli-Matti and Hartikainen, Jaana M and Spurdle, Amanda B and Investigators, kConFab and Wauters, Els and Smeets, Dominiek and Beuselinck, Benoit and Floris, Giuseppe and Chang-Claude, Jenny and Rudolph, Anja and Seibold, Petra and Flesch-Janys, Dieter and Olson, Janet E and Vachon, Celine and Pankratz, Vernon S and McLean, Catriona and Haiman, Christopher A and Henderson, Brian E and Schumacher, Fredrick and Le Marchand, Loic and Kristensen, Vessela and Alnæs, Grethe Grenaker and Zheng, Wei and Hunter, David J and ... and Australian Ovarian Canc Study Grp and kConFab Investigators and Australian Ovarian Cancer Study Group
Journal of Medical Genetics, ISSN 0022-2593, 12/2016, Volume 53, Issue 12, pp. 800 - 811
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2014, Volume 9, Issue 2, p. e86924
The identification of founder mutations in cancer predisposing genes is important to improve risk assessment in geographically defined populations, since it... 
CANCER-PREDISPOSING MUTATIONS | BREAST-CANCER | GENE-MUTATIONS | GREEN FLUORESCENT PROTEIN | MULTIDISCIPLINARY SCIENCES | PROTEIN-PROTEIN INTERACTIONS | POPULATIONS | OVARIAN-CANCER | PREVALENCE | PATHOLOGY | UBIQUITIN LIGASE ACTIVITY | Geography | Age Factors | Humans | Middle Aged | Gene Expression Regulation, Neoplastic | Ovarian Neoplasms - pathology | RING Finger Domains | RNA, Messenger - metabolism | Ovarian Neoplasms - genetics | Founder Effect | Haplotypes - genetics | Protein Isoforms - metabolism | Adult | Female | BRCA1 Protein - chemistry | Green Fluorescent Proteins - metabolism | Genetic Predisposition to Disease | Tumor Suppressor Proteins - metabolism | RNA, Messenger - genetics | Ubiquitin-Protein Ligases - metabolism | Exons - genetics | Mutation Rate | Mutation - genetics | BRCA1 Protein - genetics | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Protein Binding | Family | Italy | Chromosome Segregation - genetics | Protein Isoforms - genetics | RNA | Gene mutations | Risk assessment | Analysis | Fluorescence | Genetic aspects | Genetic screening | Ovarian cancer | Protein binding | Cancer | RNA-directed DNA polymerase | Ovarian carcinoma | Transcription | BRCA1 protein | Genes | Health risks | Breast cancer | Biochemistry | Gene expression | Medical diagnosis | Proteins | Medicine | Demographics | Genetic counseling | Testing laboratories | Green fluorescent protein | Genetics | Mutation
Journal Article
PLoS ONE, ISSN 1932-6203, 02/2012, Volume 7, Issue 2, p. e31038
Breast cancer can be caused by germline mutations in several genes that are responsible for different hereditary cancer syndromes. Some of the genes causing... 
PROTEIN | SLX4 | MESSENGER-RNA | MULTIDISCIPLINARY SCIENCES | SUSCEPTIBILITY | GERMLINE MUTATIONS | BRCA2 | PREDICTION | Genetic Predisposition to Disease | Recombinases - genetics | Humans | Family Health | Mo