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by Thompson, Bryony A and Spurdle, Amanda B and Plazzer, John-Paul and Greenblatt, Marc S and Akagi, Kiwamu and Al-Mulla, Fahd and Bapat, Bharati and Bernstein, Inge and Capellá, Gabriel and den Dunnen, Johan T and du Sart, Desiree and Fabre, Aurelie and Farrell, Michael P and Farrington, Susan M and Frayling, Ian M and Frebourg, Thierry and Goldgar, David E and Heinen, Christopher D and Holinski-Feder, Elke and Kohonen-Corish, Maija and Robinson, Kristina Lagerstedt and Leung, Suet Yi and Martins, Alexana and Moller, Pal and Morak, Monika and Nystrom, Minna and Peltomaki, Paivi and Pineda, Marta and Qi, Ming and Ramesar, Rajkumar and Rasmussen, Lene Juel and Royer-Pokora, Brigitte and Scott, Rodney J and Sijmons, Rolf and Tavtigian, Sean V and Tops, Carli M and Weber, Thomas and Wijnen, Juul and Woods, Michael O and Macrae, Finlay and Genuardi, Maurizio and Castillejo, Adela and Sexton, Aienne and Chan, Anthony K. W and Viel, Alessana and Blanco, Amie and French, Amy and Laner, Aneas and Wagner, Anja and van den Ouweland, Ans and Mensenkamp, Arjen and Payá, Artemio and Betz, Beate and Redeker, Bert and Smith, Betsy and Espenschied, Carin and Cummings, Carole and Engel, Christoph and Fornes, Claudia and Valenzuela, Cristian and Alenda, Cristina and Buchanan, Daniel and Barana, Daniela and Konstantinova, Darina and Cairns, Dianne and Glaser, Elizabeth and Silva, Felipe and Lalloo, Fiona and Crucianelli, Francesca and Hogervorst, Frans and Casey, Graham and Tomlinson, Ian and Blanco, Ignacio and Villar, Isabel López and Garcia-Planells, Javier and Bigler, Jeanette and Shia, Jinru and Martinez-Lopez, Joaquin and Gille, Johan J. P and Hopper, John and Potter, John and Soto, José Luis and Kantelinen, Jukka and Ellis, Kate and Mann, Kirsty and Varesco, Liliana and Zhang, Liying and Le Marchand, Loic and Marafie, Makia J and Nordling, Margareta and Tibiletti, Maria Grazia and Kahan, Mariano Ariel and Ligtenberg, Marjolijn and Clendenning, Mark and Jenkins, Mark and Speevak, Marsha and Digweed, Martin and Kloor, Matthias and Hitchins, Megan and Myers, Megan and ... and InSiGHT and on behalf of InSiGHT and Sahlgrenska akademin and Institutionen för biomedicin, avdelningen för medicinsk genetik och klinisk genetik and Göteborgs universitet and Gothenburg University and Institute of Biomedicine, Department of Medical and Clinical Genetics and Sahlgrenska Academy
Nature genetics, ISSN 1061-4036, 2014, Volume 46, Issue 2, pp. 107 - 115
Journal Article
by Mavaddat, N and Barrowdale, D and Anulis, I.L and Domchek, S.M and Eccles, D and Nevanlinna, H and Ramus, S.J and Spurdle, A and Robson, M and Sherman, M and Mulligan, A.M and Couch, F.J and Engel, C and McGuffog, L and Healey, S and Sinilnikova, O.M and Southey, M.C and Terry, M.B and Goldgar, D and O'Malley, F and John, E.M and Janavicius, R and Tihomirova, L and Hansen, T.V and Nielsen, F.C and Osorio, A and Stavropoulou, A and Benitez, J and Manoukian, S and Peissel, B and Barile, M and Volorio, S and Pasini, B and Dolcetti, R and Putignano, A.L and Ottini, L and Radice, P and Hamann, U and Rashid, M.U and Hogervorst, F.B.L and Kriege, M and Luijt, R.B. van der and Peock, S and Frost, D and Evans, D.G and Brewer, C and Walker, L and Rogers, M.T and Side, L.E and Houghton, C and Weaver, J and Godwin, A.K and Schmutzler, R.K and Wappenschmidt, B and Meindl, A and Kast, K and Arnold, N and Niederacher, D and Sutter, C and Deissler, H and Gadzicki, D and Preisler-Adams, S and Varon-Mateeva, R and Schonbuchner, I and Gevensleben, H and Stoppa-Lyonnet, D and Belotti, M and Barjhoux, L and Isaacs, C and Peshkin, B.N and Caldes, T and Hoya, M. de la and Canadas, C and Heikkinen, T and Heikkila, P and Aittomaki, K and Blanco, I and Lazaro, C and Brunet, J and Agnarsson, B.A and Arason, A and Barkardottir, R.B and Dumont, M and Simard, J and Montagna, M and Agata, S and D'Anea, E and Yan, M and Fox, S and Rebbeck, T.R and Rubinstein, W and Tung, N and Garber, J.E and Wang, X and Fredericksen, Z and Pankratz, V.S and Lindor, N.M and Szabo, C and Offit, K and Sakr, R and ... and kConFab Investigators and HEBON and EMBRACE and GEMO Study Collaborators and SWE-BRCA Collaborators and Consortium Investigators Modifiers and Consortium of Investigators of Modifiers of BRCA1/2 and for EMBRACE and for HEBON and for the Consortium of Investigators of Modifiers of BRCA1/2 and for SWE-BRCA Collaborators and for kConFab Investigators and for GEMO Study Collaborators and Onkologi och Patologi, MV and EpiHealth: Epidemiology for Health and Lund University and Oncology and Pathology, MV and Lunds universitet
Cancer Epidemiology, Biomarkers & Prevention, ISSN 1055-9965, 2012, Volume 21, Issue 1, pp. 134 - 147
Journal Article
International journal of cancer. Journal international du cancer, ISSN 0020-7136, 2015, Volume 136, Issue 3, pp. 668 - 677
Journal Article
British Journal of Cancer, ISSN 0007-0920, 2006, Volume 94, Issue 2, pp. 333 - 337
Journal Article
by Gaudet, Mia M and Kuchenbaecker, Karoline B and Vijai, Joseph and Klein, Robert J and Kirchhoff, Tomas and McGuffog, Lesley and Barrowdale, Daniel and Dunning, Alison M and Lee, Anew and Dennis, Joe and Healey, Sue and Dicks, Ed and Soucy, Penny and Sinilnikova, Olga M and Pankratz, Vernon S and Wang, Xianshu and Elidge, Ronald C and Tessier, Daniel C and Vincent, Daniel and Bacot, Francois and Hogervorst, Frans B. L and Peock, Susan and Stoppa-Lyonnet, Dominique and Peterlongo, Paolo and Schmutzler, Rita K and Nathanson, Katherine L and Piedmonte, Marion and Singer, Christian F and Thomassen, Mads and Hansen, Thomas v O and Neuhausen, Susan L and Blanco, Ignacio and Greene, Mark H and Garber, Judith and Weitzel, Jeffrey N and Anulis, Irene L and Goldgar, David E and D'Anea, Emma and Caldes, Trinidad and Nevanlinna, Heli and Osorio, Ana and van Rensburg, Elizabeth J and Arason, Adalgeir and Rennert, Gad and van den Ouweland, Ans M. W and van der Hout, Annemarie H and Kets, Carolien M and Aalfs, Cora M and Wijnen, Juul T and Ausems, Margreet G. E. M and Frost, Debra and Ellis, Steve and Fineberg, Elena and Platte, Radka and Evans, D. Gareth and Jacobs, Chris and Adlard, Julian and Tischkowitz, Marc and Porteous, Mary E and Damiola, Francesca and Golmard, Lisa and Barjhoux, Laure and Longy, Michel and Belotti, Muriel and Ferrer, Sana Fert and Mazoyer, Sylvie and Spurdle, Amanda B and Manoukian, Siranoush and Barile, Monica and Genuardi, Maurizio and Arnold, Norbert and Meindl, Alfons and Sutter, Christian and Wappenschmidt, Barbara and Domchek, Susan M and Pfeiler, Georg and Friedman, Eitan and Jensen, Uffe Birk and Robson, Mark and Shah, Sohela and Lazaro, Conxi and Mai, Phuong L and Benitez, Javier and Southey, Melissa C and Schmidt, Marjanka K and Fasching, Peter A and Peto, Julian and Humphreys, Manjeet K and Wang, Qin and Michailidou, Kyriaki and Sawyer, Elinor J and Burwinkel, Barbara and Guénel, Pascal and Bojesen, Stig E and Milne, Roger L and Brenner, Hermann and Lochmann, Magdalena and Aittomäki, Kristiina and Dörk, Thilo and Margolin, Sara and ... and KConFab Investigators and Ontario Canc Genetics Network and HEBON and EMBRACE and GEMO Study Collaborators and GENICA Network and Ontario Cancer Genetics Network and The GENICA Network
PLoS genetics, ISSN 1553-7390, 2013, Volume 9, Issue 3, p. e1003173
Journal Article
Neurology, ISSN 0028-3878, 2009, Volume 73, Issue 6, pp. 430 - 437
Objective: To describe the phenotype of adult patients with variant and classic ataxia-telangiectasia (A-T), to raise the degree of clinical suspicion for the... 
CELLS | GENE | GENOTYPE | 5762INS137 | KINASE | PHENOTYPE | ATM MUTATIONS | EXPRESSION | VARIANT | CANCER | CLINICAL NEUROLOGY | Ataxia Telangiectasia - diagnosis | Young Adult | Age Factors | Humans | Middle Aged | Adult | Ataxia Telangiectasia - genetics | Female | Male | Genetic Variation - genetics | Retrospective Studies | Mutation - genetics
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 09/2005, Volume 42, Issue 9, pp. 711 - 719
Journal Article
BMC Cancer, ISSN 1471-2407, 2011, Volume 11
Background It has been estimated that between 5% and 10% of women diagnosed with breast cancer have a hereditary form of the disease, primarily caused by a... 
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2016, Volume 18, Issue 2, pp. 137 - 144
Purpose: Female breast cancer patients carrying a BRCA1/2 mutation have an increased risk of second primary breast cancer. Rapid genetic counseling and testing... 
Journal Article
Journal Article