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Journal Article
by Mefford, Heather C and Sharp, Anew J and Baker, Carl and Itsara, Andy and Jiang, Zhaoshi and Buysse, Karen and Huang, Shuwen and Maloney, Viv K and Crolla, John A and Baralle, Diana and Collins, Amanda and Mercer, Catherine and Norga, Koen and de Ravel, Thomy and Devriendt, Koen and Bongers, Ernie M. H. F and de Leeuw, Nicole and Reardon, William and Gimelli, Stefania and Bena, Frederique and Hennekam, Raoul C and Male, Alison and Gaunt, Lorraine and Clayton-Smith, Jill and Simonic, Ingrid and Park, Soo Mi and Mehta, Sarju G and Nik-Zainal, Serena and Woods, C. Geoffrey and Firth, Helen V and Parkin, Georgina and Fichera, Marco and Reitano, Santina and Lo Giudice, Mariangela and Li, Kelly E and Casuga, Iris and Broomer, Adam and Conrad, Bernard and Schwerzmann, Markus and Raber, Lorenz and Gallati, Sabina and Striano, Pasquale and Coppola, Antonietta and Tolmie, John L and Tobias, Edward S and Lilley, Chris and Armengol, Lluis and Spysschaert, Yves and Verloo, Patrick and de Coene, Anja and Goossens, Linde and Mortier, Geert and Speleman, Frank and van Binsbergen, Ellen and Nelen, Marcel R and Hochstenbach, Ron and Poot, Martin and Gallagher, Louise and Gill, Michael and McClellan, Jon and King, Mary-Claire and Regan, Regina and Skinner, Cindy and Stevenson, Roger E and Antonarakis, Stylianos E and Chen, Caifu and Estivill, Xavier and Menten, Bjorn and Gimelli, Giorgio and Gribble, Susan and Schwartz, Stuart and Sutcliffe, James S and Walsh, Tom and Knight, Samantha J. L and Sebat, Jonathan and Romano, Corrado and Schwartz, Charles E and Veltman, Joris A and de Vries, Bert B. A and Vermeesch, Joris R and Barber, John C. K and Willatt, Lionel and Tassabehji, May and Eichler, Evan E
New England journal of medicine, ISSN 0028-4793, 2008, Volume 359, Issue 16, pp. 1685 - U130
Journal Article
Journal Article
by Jakubowska, A and Rozkrut, D and Antoniou, A and Hamann, U and Scott, R. J and McGuffog, L and Healy, S and Sinilnikova, O. M and Rennert, G and Lejbkowicz, F and Flugelman, A and Anulis, I. L and Glendon, G and Ozcelik, H and Thomassen, M and Paligo, M and Aretini, P and Kantala, J and Aroer, B and Von Wachenfeldt, A and Liljegren, A and Loman, N and Herbst, K and Kristoffersson, U and Rosenquist, R and Karlsson, P and Stenmark-Askmalm, M and Melin, B and Nathanson, K. L and Domchek, S. M and Byrski, T and Huzarski, T and Gronwald, J and Menkiszak, J and Cybulski, C and Serrano, P and Osorio, A and Cajal, T. R and Tsitlaidou, M and Benitez, J and Gilbert, M and Rookus, M and Aalfs, C. M and Kluijt, I and Boessenkool-Pape, J. L and Meijers-Heijboer, H. E. J and Oosterwijk, J. C and van Asperen, C. J and Blok, M. J and Nelen, M. R and van den Ouweland, A. M. W and Seynaeve, C and van der Luijt, R. B and Devilee, P and Easton, D. F and Peock, S and Frost, D and Platte, R and Ellis, S. D and Fineberg, E and Evans, D. G and Lalloo, F and Eeles, R and Jacobs, C and Adlard, J and Davidson, R and Eccles, D and Cole, T and Cook, J and Godwin, A and Bove, B and Stoppa-Lyonnet, D and Caux-Moncoutier, V and Belotti, M and Tirapo, C and Mazoyer, S and Barjhoux, L and Boutry-Kryza, N and Pujol, P and Coupier, I and Peyrat, J-P and Vennin, P and Muller, D and Fricker, J-P and Venat-Bouvet, L and Johannsson, OTh and Isaacs, C and Schmutzler, R and Wappenschmidt, B and Meindl, A and Arnold, N and Varon-Mateeva, R and Niederacher, D and Sutter, C and Deissler, H and Preisler-Adams, S and Simard, J and Soucy, P and Durocher, F and Chenevix-Trench, G and ...
British Jounal of Cancer, ISSN 0007-0920, 06/2012, Volume 106, Issue 12, pp. 2016 - 2024
BACKGROUND: The variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer... 
Journal Article
by Jakubowska, A and Rozkrut, D and Antoniou, A and Hamann, U and Scott, R. J and McGuffog, L and Healy, S and Sinilnikova, O. M and Rennert, G and Lejbkowicz, F and Flugelman, A and Andrulis, I. L and Glendon, G and Ozcelik, H and Thomassen, M and Paligo, M and Aretini, P and Kantala, J and Aroer, B and Von Wachenfeldt, A and Liljegren, A and Loman, N and Herbst, K and Kristoffersson, U and Rosenquist, R and Karlsson, P and Stenmark-Askmalm, M and Melin, Beatrice and Nathanson, K. L and Domchek, S. M and Byrski, T and Huzarski, T and Gronwald, J and Menkiszak, J and Cybulski, C and Serrano, P and Osorio, A and Cajal, T. R and Tsitlaidou, M and Benitez, J and Gilbert, M and Rookus, M and Aalfs, C. M and Kluijt, I and Boessenkool-Pape, J. L and Meijers-Heijboer, H. E. J and Oosterwijk, J. C and van Asperen, C. J and Blok, M. J and Nelen, M. R and van den Ouweland, A. M. W and Seynaeve, C and van der Luijt, R. B and Devilee, P and Easton, D. F and Peock, S and Frost, D and Platte, R and Ellis, S. D and Fineberg, E and Evans, D. G and Lalloo, F and Eeles, R and Jacobs, C and Adlard, J and Davidson, R and Eccles, D and Cole, T and Cook, J and Godwin, A and Bove, B and Stoppa-Lyonnet, D and Caux-Moncoutier, V and Belotti, M and Tirapo, C and Mazoyer, S and Barjhoux, L and Boutry-Kryza, N and Pujol, P and Coupier, I and Peyrat, J-P and Vennin, P and Muller, D and Fricker, J-P and Venat-Bouvet, L and Johannsson, OTh and Isaacs, C and Schmutzler, R and Wappenschmidt, B and Meindl, A and Arnold, N and Varon-Mateeva, R and Niederacher, D and Sutter, C and Deissler, H and Preisler-Adams, S and Simard, J and Soucy, P and Durocher, F and Chenevix-Trench, G and ... and Medicinska fakulteten and Institutionen för strålningsvetenskaper and Umeå universitet and Onkologi
British Journal of Cancer, ISSN 0007-0920, 2012, Volume 106, Issue 12, p. 2016
BACKGROUND: The variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer... 
Clinical Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Cancer and Oncology | Klinisk medicin | Cancer och onkologi
Journal Article
by Antoniou, Antonis C and Kartsonaki, Christiana and Sinilnikova, Olga M and Soucy, Penny and McGuffog, Lesley and Healey, Sue and Lee, Anew and Peterlongo, Paolo and Manoukian, Siranoush and Peissel, Bernard and Zaffaroni, Daniela and Cattaneo, Elisa and Barile, Monica and Pensotti, Valeria and Pasini, Barbara and Dolcetti, Riccardo and Giannini, Giuseppe and Putignano, Anna Laura and Varesco, Liliana and Radice, Paolo and Mai, Phuong L and Greene, Mark H and Anulis, Irene L and Glendon, Gord and Ozcelik, Hilmi and Thomassen, Mads and Gerdes, Anne-Marie and Kruse, Torben A and Birk Jensen, Uffe and Crüger, Dorthe G and Caligo, Maria A and Laitman, Yael and Milgrom, Roni and Kaufman, Bella and Paluch-Shimon, Shani and Friedman, Eitan and Loman, Niklas and Harbst, Katja and Lindblom, Annika and Arver, Brita and Ehrencrona, Hans and Melin, Beatrice and Nathanson, Katherine L and Domchek, Susan M and Rebbeck, Timothy and Jakubowska, Ania and Lubinski, Jan and Gronwald, Jacek and Huzarski, Tomasz and Byrski, Tomasz and Cybulski, Cezary and Gorski, Bohdan and Osorio, Ana and Ramón Y Cajal, Teresa and Fostira, Florentia and Anés, Raquel and Benitez, Javier and Hamann, Ute and Hogervorst, Frans B and Rookus, Matti A and Hooning, Maartje J and Nelen, Marcel R and van der Luijt, Rob B and van Os, Theo A. M and van Asperen, Christi J and Devilee, Peter and Meijers-Heijboer, Hanne E. J and Gómez Garcia, Encarna B and Peock, Susan and Cook, Margaret and Frost, Debra and Platte, Radka and Leyland, Jean and Evans, D. Gareth and Lalloo, Fiona and Eeles, Ros and Izatt, Louise and Adlard, Julian and Davidson, Rosemarie and Eccles, Diana and Ong, Kai-Ren and Cook, Jackie and Douglas, Fiona and Paterson, Joan and Kennedy, M. John and Miedzybrodzka, Zosia and Godwin, Anew and Stoppa-Lyonnet, Dominique and Buecher, Bruno and Belotti, Muriel and Tirapo, Carole and Mazoyer, Sylvie and Barjhoux, Laure and Lasset, Christine and Leroux, Dominique and Faivre, Laurence and Bronner, Myriam and Prieur, Fabienne and Nogues, Catherine and Rouleau, Etienne and ... and kConFab Investigators and EMBRACE and CEMO Study Collaborators and CIMBA and HEBON and Breast Canc Family Registry and SWE-BRCA and Breast Cancer Family Registry and kConFab investigators and on behalf of CIMBA and Medicinska fakulteten and Institutionen för strålningsvetenskaper and Onkologi and Umeå universitet
Human molecular genetics, ISSN 0964-6906, 2011, Volume 20, Issue 16, pp. 3304 - 3321
Journal Article
by Jakubowska, A and Rozkrut, D and Antoniou, A and Hamann, U and Scott, R. J and McGuffog, L and Healy, S and Sinilnikova, O. M and Rennert, G and Lejbkowicz, F and Flugelman, A and Andrulis, I. L and Glendon, G and Ozcelik, H and Thomassen, M and Paligo, M and Aretini, P and Kantala, J and Aroer, B and Von Wachenfeldt, A and Liljegren, A and Loman, N and Herbst, K and Kristoffersson, U and Rosenquist, Richard and Karlsson, P and Stenmark-Askmalm, M and Melin, B and Nathanson, K. L and Domchek, S. M and Byrski, T and Huzarski, T and Gronwald, J and Menkiszak, J and Cybulski, C and Serrano, P and Osorio, A and Cajal, T. R and Tsitlaidou, M and Benitez, J and Gilbert, M and Rookus, M and Aalfs, C. M and Kluijt, I and Boessenkool-Pape, J. L and Meijers-Heijboer, H. E. J and Oosterwijk, J. C and van Asperen, C. J and Blok, M. J and Nelen, M. R and van den Ouweland, A. M. W and Seynaeve, C and van der Luijt, R. B and Devilee, P and Easton, D. F and Peock, S and Frost, D and Platte, R and Ellis, S. D and Fineberg, E and Evans, D. G and Lalloo, F and Eeles, R and Jacobs, C and Adlard, J and Davidson, R and Eccles, D and Cole, T and Cook, J and Godwin, A and Bove, B and Stoppa-Lyonnet, D and Caux-Moncoutier, V and Belotti, M and Tirapo, C and Mazoyer, S and Barjhoux, L and Boutry-Kryza, N and Pujol, P and Coupier, I and Peyrat, J-P and Vennin, P and Muller, D and Fricker, J-P and Venat-Bouvet, L and Johannsson, OTh and Isaacs, C and Schmutzler, R and Wappenschmidt, B and Meindl, A and Arnold, N and Varon-Mateeva, R and Niederacher, D and Sutter, C and Deissler, H and Preisler-Adams, S and Simard, J and Soucy, P and Durocher, F and Chenevix-Trench, G and ... and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Uppsala universitet and Hematologi och immunologi
British Journal of Cancer, ISSN 0007-0920, 2012, Volume 106, Issue 12, p. 2016
BACKGROUND: The variable penetrance of breast cancer in BRCA1/2 mutation carriers suggests that other genetic or environmental factors modify breast cancer... 
PHB 1630 C > T polymorphism | BRCA1/2 mutation carriers | Medical and Health Sciences | Medicin och hälsovetenskap | MTHFR 677 C > T polymorphism | breast/ovarian cancer risk
Journal Article
by Jakubowska, A and Rozkrut, D and Antoniou, A and Hamann, U and Scott, R. J and McGuffog, L and Healy, S and Sinilnikova, O. M and Rennert, G and Lejbkowicz, F and Flugelman, A and Anulis, I. L and Glendon, G and Ozcelik, H and Thomassen, M and Paligo, M and Aretini, P and Kantala, J and Aroer, B and Von Wachenfeldt, A and Liljegren, A and Loman, N and Herbst, K and Kristoffersson, U and Rosenquist, R and Karlsson, P and Stenmark-Askmalm, M and Melin, B and Nathanson, K. L and Domchek, S. M and Byrski, T and Huzarski, T and Gronwald, J and Menkiszak, J and Cybulski, C and Serrano, P and Osorio, A and Cajal, T. R and Tsitlaidou, M and Benítez, J and Gilbert, M and Rookus, M and Aalfs, C. M and Kluijt, I and Boessenkool-Pape, J. L and Meijers-Heijboer, H. E. J and Oosterwijk, J. C and van Asperen, C. J and Blok, M. J and Nelen, M. R and van den Ouweland, A. M. W and Seynaeve, C and van der Luijt, R. B and Devilee, P and Easton, D. F and Peock, S and Frost, D and Platte, R and Ellis, S. D and Fineberg, E and Evans, D. G and Lalloo, F and Eeles, R and Jacobs, C and Adlard, J and Davidson, R and Eccles, D and Cole, T and Cook, J and Godwin, A and Bove, B and Stoppa-Lyonnet, D and Caux-Moncoutier, V and Belotti, M and Tirapo, C and Mazoyer, S and Barjhoux, L and Boutry-Kryza, N and Pujol, P and Coupier, I and Peyrat, J.-P and Vennin, P and Muller, D and Fricker, J.-P and Venat-Bouvet, L and Johannsson, O. Th and Isaacs, C and Schmutzler, R and Wappenschmidt, B and Meindl, A and Arnold, N and Varon-Mateeva, R and Niederacher, D and Sutter, C and Deissler, H and Preisler-Adams, S and Simard, J and Soucy, P and Durocher, F and Chenevix-Trench, G and ... and KConFab and EMBRACE and GEMO Study Collaborators and CIMBA and SWE BRCA and HEBON and OCGN and CIMBA, the Consortium of Investigators of Modifiers of BRCA1/2-Related Cancer and SWE-BRCA and on behalf of CIMBA, the Consortium of Investigators of Modifiers of BRCA1/2-Related Cancer and Onkologi och Patologi, MV and Lund University and BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation and Oncology and Pathology, MV and Lunds universitet
British journal of cancer, ISSN 0007-0920, 2012, Volume 106, Issue 12, pp. 2016 - 2024
Journal Article
Genetics in Medicine, ISSN 1098-3600, 2017, Volume 19, Issue 6, pp. 667 - 675
PURPOSE: Copy-number variation is a common source of genomic variation and an important genetic cause of disease. Microarray-based analysis of copy-number... 
read depth | exome sequencing | structural variation | Copy-number variants | diagnostic yield | QT SYNDROME | copy-number variants | SEVERE INTELLECTUAL DISABILITY | DEVELOPMENTAL DELAY | MODEL | POLYMORPHISM | CONGENITAL-ANOMALIES | GENOME | INSERTIONS | GENETICS & HEREDITY | MAP | Original
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Journal Article