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by Osorio, Ana and Milne, Roger L and Kuchenbaecker, Karoline and Vaclova, Tereza and Pita, Guillermo and Alonso, Rosario and Peterlongo, Paolo and Blanco, Ignacio and de la Hoya, Miguel and Duran, Mercedes and Diez, Orland and Ramon y Cajal, Teresa and Konstantopoulou, Irene and Martinez-Bouzas, Cristina and Anes Conejero, Raquel and Soucy, Penny and McGuffog, Lesley and Barrowdale, Daniel and Lee, Anew and Swe-Brca, N. N and Arver, Brita and Rantala, Johanna and Loman, Niklas and Ehrencrona, Hans and Olopade, Olufunmilayo I and Beattie, Mary S and Domchek, Susan M and Nathanson, Katherine and Rebbeck, Timothy R and Arun, Banu K and Karlan, Beth Y and Walsh, Christine and Lester, Jenny and John, Esther M and Whittemore, Alice S and Daly, Mary B and Southey, Melissa and Hopper, John and Terry, Mary B and Buys, Sauna S and Janavicius, Ramunas and Dorfling, Cecilia M and van Rensburg, Elizabeth J and Steele, Linda and Neuhausen, Susan L and Ding, Yuan Chun and Hansen, Thomas V. O and Jonson, Lars and Ejlertsen, Bent and Gerdes, Anne-Marie and Infante, Mar and Herraez, Belen and Moreno, Leticia Thais and Weitzel, Jeffrey N and Herzog, Josef and Weeman, Kisa and Manoukian, Siranoush and Peissel, Bernard and Zaffaroni, Daniela and Scuvera, Giulietta and Bonanni, Bernardo and Mariette, Frederique and Volorio, Sara and Viel, Alessana and Varesco, Liliana and Papi, Laura and Ottini, Laura and Tibiletti, Maria Grazia and Radice, Paolo and Yannoukakos, koulis and Garber, Judy and Ellis, Steve and Frost, Debra and Platte, Radka and Fineberg, Elena and Evans, Gareth and Lalloo, Fiona and Izatt, Louise and Eeles, Ros and Adlard, Julian and Davidson, Rosemarie and Cole, Trevor and Eccles, Diana and Cook, Jackie and Hodgson, Shirley and Brewer, Carole and Tischkowitz, Marc and Douglas, Fiona and Porteous, Mary and Side, Lucy and Walker, Lisa and Morrison, Patrick and Donaldson, Alan and Kennedy, John and Foo, Claire and Godwin, Anew K and Schmutzler, Rita Katharina and Wappenschmidt, Barbara and Rhiem, Kerstin and Engel, Christoph and ... and KConFab Investigators and HEBON and SWE-BRCA and Onkologi och Patologi, MV and Lund University and Division of Clinical Genetics and Oncology and Pathology, MV and Avdelningen för klinisk genetik and BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation and Lunds universitet
PLoS genetics, ISSN 1553-7390, 2014, Volume 10, Issue 4, pp. e1004256 - e1004256
Journal Article
International journal of cancer. Journal international du cancer, ISSN 0020-7136, 2015, Volume 136, Issue 3, pp. 668 - 677
Journal Article
by Colombo, Mara and Lòpez‐Perolio, Irene and Meeks, Huong D and Caleca, Laura and Parsons, Michael T and Li, Hongyan and Vecchi, Giovanna and Tudini, Emma and Foglia, Claudia and Mondini, Patrizia and Manoukian, Siranoush and Behar, Raquel and Garcia, Encarna B. Gómez and Meindl, Alfons and Montagna, Marco and Niederacher, Dieter and Schmidt, Ane Y and Varesco, Liliana and Wappenschmidt, Barbara and Bolla, Manjeet K and Dennis, Joe and Michailidou, Kyriaki and Wang, Qin and Aittomäki, Kristiina and Andrulis, Irene L and Anton‐Culver, Hoda and Arndt, Volker and Beckmann, Matthias W and Beeghly‐Fadel, Alicia and Benitez, Javier and Boeckx, Bram and Bogdanova, Natalia V and Bojesen, Stig E and Bonanni, Bernardo and Brauch, Hiltrud and Brenner, Hermann and Burwinkel, Barbara and Chang‐Claude, Jenny and Conroy, Don M and Couch, Fergus J and Cox, Angela and Cross, Simon S and Czene, Kamila and Devilee, Peter and Dörk, Thilo and Eriksson, Mikael and Fasching, Peter A and Figueroa, Jonine and Fletcher, Olivia and Flyger, Henrik and Gabrielson, Marike and García‐Closas, Montserrat and Giles, Graham G and González‐Neira, Anna and Guénel, Pascal and Haiman, Christopher A and Hall, Per and Hamann, Ute and Hartman, Mikael and Hauke, Jan and Hollestelle, Antoinette and Hopper, John L and Jakubowska, Anna and Jung, Audrey and Kosma, Veli‐Matti and Lambrechts, Diether and Le Marchand, Loid and Lindblom, Annika and Lubinski, Jan and Mannermaa, Arto and Margolin, Sara and Miao, Hui and Milne, Roger L and Neuhausen, Susan L and Nevanlinna, Heli and Olson, Janet E and Peterlongo, Paolo and Peto, Julian and Pylkäs, Katri and Sawyer, Elinor J and Schmidt, Marjanka K and Schmutzler, Rita K and Schneeweiss, Andreas and Schoemaker, Minouk J and See, Mee Hoong and Southey, Melissa C and Swerdlow, Anthony and Teo, Soo H and Toland, Amanda E and Tomlinson, Ian and Truong, Thérèse and Asperen, Christi J and den Ouweland, Ans M.W and der Kolk, Lizet E and Winqvist, Robert and Yannoukakos, Drakoulis and Zheng, Wei and Dunning, Alison M and Easton, Douglas F and Henderson, Alex and ... and kConFab AOCS Investigators and Study EMBRACE and Study HEBON and kConFab/AOCS Investigators
Human Mutation, ISSN 1059-7794, 05/2018, Volume 39, Issue 5, pp. 729 - 741
Although the spliceogenic nature of the BRCA2 c.68‐7T > A variant has been demonstrated, its association with cancer risk remains controversial. In this study,... 
quantitative real‐time PCR | multifactorial likelihood analysis | spliceogenic variants | digital PCR | BRCA2 | quantitative real-time PCR | RNA | SEQUENCE VARIANTS | RISK | UNCLASSIFIED VARIANTS | FANCONI-ANEMIA | CANCER | BREAST | INTEGRATED EVALUATION | GENES | GENETICS & HEREDITY | MUTATIONS | Oncology, Experimental | Research | Cancer | BRCA2 protein | Pathogenicity | Transcription | Genetic analysis | Isoforms | Breast cancer | Index Medicus | s
Journal Article
by Kuchenbaecker, Karoline B and McGuffog, Lesley and Barrowdale, Daniel and Lee, Andrew and Soucy, Penny and Dennis, Joe and Domchek, Susan M and Robson, Mark and Spurdle, Amanda B and Ramus, Susan J and Mavaddat, Nasim and Terry, Mary Beth and Neuhausen, Susan L and Schmutzler, Rita Katharina and Simard, Jacques and Pharoah, Paul D.P and Offit, Kenneth and Couch, Fergus J and Chenevix-Trench, Georgia and Easton, Douglas F and Antoniou, Antonis C and Healey, Sue and Lush, Michael and Hamann, Ute and Southey, Melissa and John, Esther M and Chung, Wendy K and Daly, Mary B and Buys, Saundra S and Goldgar, David E and Dorfling, Cecilia M and van Rensburg, Elizabeth J and Ding, Yuan Chun and Ejlertsen, Bent and Gerdes, Anne-Marie and Hansen, Thomas V. O and Slager, Susan and Hallberg, Emily and Benitez, Javier and Osorio, Ana and Cohen, Nancy and Lawler, William and Weitzel, Jeffrey N and Peterlongo, Paolo and Pensotti, Valeria and Dolcetti, Riccardo and Barile, Monica and Bonanni, Bernardo and Azzollini, Jacopo and Manoukian, Siranoush and Peissel, Bernard and Radice, Paolo and Savarese, Antonella and Papi, Laura and Giannini, Giuseppe and Fostira, Florentia and Konstantopoulou, Irene and Adlard, Julian and Brewer, Carole and Cook, Jackie and Davidson, Rosemarie and Eccles, Diana and Eeles, Ros and Ellis, Steve and EMBRACE, EMBRACE and Frost, Debra and Hodgson, Shirley and Izatt, Louise and Lalloo, Fiona and Ong, Kai-ren and Godwin, Andrew K and Arnold, Norbert and Dworniczak, Bernd and Engel, Christoph and Gehrig, Andrea and Hahnen, Eric and Hauke, Jan and Kast, Karin and Meindl, Alfons and Niederacher, Dieter and Varon-Mateeva, Raymonda and Wang-Gohrke, Shan and Wappenschmidt, Barbara and Barjhoux, Laure and Collonge-Rame, Marie-Agne`s and Elan, Camille and GEMO Study Collaborators, Study Collaborators and Golmard, Lisa and Barouk-Simonet, Emmanuelle and Lesueur, Fabienne and Mazoyer, Sylvie and Sokolowska, Joanna and StoppaLyonnet, Dominique and Isaacs, Claudine and Claes, Kathleen B. M and Poppe, Bruce and de la Hoya, Miguel and Garcia-Barberan, Vanesa and Aittomäki, Kristiina and Nevanlinna, Heli and ... and Onkologi och Patologi, MV and Lund University and Division of Clinical Genetics and Oncology and Pathology, MV and Avdelningen för klinisk genetik and BioCARE: Biomarkers in Cancer Medicine improving Health Care, Education and Innovation and Lunds universitet
Journal of the National Cancer Institute, ISSN 0027-8874, 07/2017, Volume 109, Issue 7, p. djw302
Journal Article
by Maxwell, Christopher A and Benítez, Javier and Gómez-Baldó, Laia and Osorio, Ana and Bonifaci, Núria and Fernández-Ramires, Ricardo and Costes, Sylvain V and Guinó, Elisabet and Chen, Helen and Evans, Gareth J. R and Mohan, Pooja and Català, Isabel and Petit, Anna and Aguilar, Helena and Villanueva, Alberto and Aytes, Alvaro and Serra-Musach, Jordi and Rennert, Gad and Lejbkowicz, Flavio and Peterlongo, Paolo and Manoukian, Siranoush and Peissel, Bernard and Ripamonti, Carla B and Bonanni, Bernardo and Viel, Alessana and Allavena, Anna and Bernard, Loris and Radice, Paolo and Friedman, Eitan and Kaufman, Bella and Laitman, Yael and Dubrovsky, Maya and Milgrom, Roni and Jakubowska, Anna and Cybulski, Cezary and Gorski, Bohdan and Jaworska, Katarzyna and Durda, Katarzyna and Sukiennicki, Grzegorz and Lubiński, Jan and Shugart, Yin Yao and Domchek, Susan M and Letrero, Richard and Weber, Barbara L and Hogervorst, Frans B. L and Rookus, Matti A and Collee, J. Margriet and Devilee, Peter and Ligtenberg, Marjolijn J and Luijt, Rob B. van der and Aalfs, Cora M and Waisfisz, Quinten and Wijnen, Juul and Roozendaal, Cornelis E. P. van and Easton, Douglas F and Peock, Susan and Cook, Margaret and Oliver, Clare and Frost, Debra and Harrington, Patricia and Evans, D. Gareth and Lalloo, Fiona and Eeles, Rosalind and Izatt, Louise and Chu, Carol and Eccles, Diana and Douglas, Fiona and Brewer, Carole and Nevanlinna, Heli and Heikkinen, Tuomas and Couch, Fergus J and Lindor, Noralane M and Wang, Xianshu and Godwin, Anew K and Caligo, Maria A and Lombardi, Grazia and Loman, Niklas and Karlsson, Per and Ehrencrona, Hans and Wachenfeldt, Anna von and Barkardottir, Rosa Bjork and Hamann, Ute and Rashid, Muhammad U and Lasa, Aiana and Caldés, Trinidad and Anés, Raquel and Schmitt, Michael and Assmann, Volker and Stevens, Kristen and Offit, Kenneth and Curado, João and Tilgner, Hagen and Guigó, Roderic and Aiza, Gemma and Brunet, Joan and Castellsagué, Joan and Martrat, Griselda and Urruticoechea, Ander and Blanco, Ignacio and Tihomirova, Laima and ... and HEBON and EMBRACE and GEMO Study Collaborators and kConFab and BCFR and SWE-BRCA and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Institutionen för immunologi, genetik och patologi and Medicinsk genetik and Uppsala universitet
PLoS biology, ISSN 1544-9173, 2011, Volume 9, Issue 11, pp. e1001199 - e1001199
Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark of breast carcinogenesis. In BRCA1 mutation... 
MULTIPLE-MYELOMA | CENTROSOMAL MICROTUBULE NUCLEATION | STEM-CELLS | MUTATION CARRIERS | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIOLOGY | MITOTIC SPINDLE | ADHERENS JUNCTIONS | PROGENITOR-CELL FATE | BRCA1-DEPENDENT UBIQUITINATION | EXPRESSION SIGNATURE | MAMMARY-GLAND | Epithelial Cells - metabolism | Humans | Receptors, Estrogen - analysis | Breast Neoplasms - metabolism | Aurora Kinase A | Genetic Variation | BRCA1 Protein - metabolism | Hyaluronan Receptors - metabolism | Microtubules - ultrastructure | Genes, BRCA2 | Female | Genes, BRCA1 | Epithelial Cells - cytology | Extracellular Matrix Proteins - metabolism | Protein-Serine-Threonine Kinases - metabolism | Genetic Predisposition to Disease | Breast - cytology | Extracellular Matrix Proteins - genetics | Microtubules - physiology | Genotype | Aurora Kinases | Hyaluronan Receptors - genetics | BRCA1 Protein - genetics | Cell Polarity - genetics | BRCA2 Protein - metabolism | Breast Neoplasms - genetics | Breast Neoplasms - pathology | Cell Line, Tumor | Heterozygote | HeLa Cells | BRCA2 Protein - genetics | Confidence intervals | Medical research | Hospitals | Biomedical research | Colleges & universities | Breast cancer | Mutation | Index Medicus | Càncer de mama | Oncogens | Cèl·lules epitelials | Epithelial cells | Oncogenes | Antigens, CD44 | Cell Polarity | Receptors, Estrogen | Protein-Serine-Threonine Kinases | Epithelial Cells | Breast Neoplasms | Life Sciences | Extracellular Matrix Proteins | Microtubules | BRCA2 Protein | Breast | BRCA1 Protein | Cancer | Biological Sciences | Naturvetenskap | Natural Sciences | Biologiska vetenskaper
Journal Article
by Phelan, Catherine M and Kuchenbaecker, Karoline B and Tyrer, Jonathan P and Kar, Siddhartha P and Lawrenson, Kate and Winham, Stacey J and Dennis, Joe and Pirie, Ailith and Riggan, Marjorie J and Chornokur, Ganna and Earp, Madalene A and Lyra, Paulo C and Lee, Janet M and Coetzee, Simon and Beesley, Jonathan and McGuffog, Lesley and Soucy, Penny and Dicks, Ed and Lee, Anew and Barrowdale, Daniel and Lecarpentier, Julie and Leslie, Goska and Aalfs, Cora M and Aben, Katja K. H and Adams, Marcia and Adlard, Julian and Anulis, Irene L and Anton-Culver, Hoda and Antonenkova, Natalia and Aravantinos, Gerasimos and Arnold, Norbert and Arun, Banu K and Arver, Brita and Azzollini, Jacopo and Balmaña, Judith and Banerjee, Susana N and Barjhoux, Laure and Barkardottir, Rosa B and Bean, Yukie and Beckmann, Matthias W and Beeghly-Fadiel, Alicia and Benitez, Javier and Bermisheva, Marina and Bernardini, Marcus Q and Birrer, Michael J and Bjorge, Line and Black, Amanda and Blankstein, Kenneth and Blok, Marinus J and Bodelon, Clara and Bogdanova, Natalia and Bojesen, Anders and Bonanni, Bernardo and Borg, Åke and Bradbury, Angela R and Brenton, James D and Brewer, Carole and Brinton, Louise and Broberg, Per and Brooks-Wilson, Angela and Bruinsma, Fiona and Brunet, Joan and Buecher, Bruno and Butzow, Ralf and Buys, Sauna S and Caldes, Trinidad and Caligo, Maria A and Campbell, Ian and Cannioto, Rikki and Carney, Michael E and Cescon, Terence and Chan, Salina B and Chang-Claude, Jenny and Chanock, Stephen and Chen, Xiao Qing and Chiew, Yoke-Eng and Chiquette, Jocelyne and Chung, Wendy K and Claes, Kathleen B. M and Conner, Thomas and Cook, Linda S and Cook, Jackie and Cramer, Daniel W and Cunningham, Julie M and D'Aloisio, Aimee A and Daly, Mary B and Damiola, Francesca and Damirovna, Sakaeva Dina and Dansonka-Mieszkowska, Agnieszka and Dao, Fanny and Davidson, Rosemarie and Defazio, Anna and Delnatte, Capucine and Doheny, Kimberly F and Diez, Orland and Ding, Yuan Chun and Doherty, Jennifer Anne and Domchek, Susan M and Dorfling, Cecilia M and Dörk, Thilo and ... and KConFab Investigators and EMEMBRACE Study and GEMO Study Collaborators and OPAL Study Grp and AOCS Study Grp and HEBON Study and AOCS study group and EMBRACE Study and OPAL study group and Medicinska fakulteten and Medicinska och farmaceutiska vetenskapsområdet and Ortopedi and Uppsala universitet and Institutionen för kirurgiska vetenskaper
Nature genetics, ISSN 1061-4036, 2017, Volume 49, Issue 5, pp. 680 - 691
Journal Article
Cancer Epidemiology Biomarkers & Prevention, ISSN 1055-9965, 02/2009, Volume 18, Issue 2, pp. 601 - 610
Journal Article
by Gaudet, Mia and Kircchoff, Tomas and Green, Todd and Vijai, Joseph and Korn, Joshua and Guiducci, Candace and Segrè, Ayellet and McGee, Kate and McGuffog, Lesley and Kartsonaki, Christiana and Morrison, Jonathan and Healey, Sue and Sinilnikova, Olga and Stoppa-Lyonnet, Dominique and Mazoyer, Sylvie and Gauthier-Villars, Marion and Sobol, Hagay and Longy, Michel and Frenay, Marc and Hogervorst, Frans and Rookus, Matti and Collée, Margriet and Hoogerbrugge, Nicoline and Roozendaal, Kees and Piedemonte, Marion and Rubinstein, Wendy and Nerenstone, Stacy and Le, Linda and Blank, Stephanie and Caldes, Trinidad and Hoya, Miguel and Nevanlinna, Heli and Aittomäki, Kristiina and Lazaro, Conxi and Blanco, Ignacio and Arason, Adalgeir and Johannson, Oskar and Barkardottir, Rosa and Devilee, Peter and Olopade, Olofunmilayo and Neuhausen, Susan and Wang, Xianshu and Fredericksen, Zachary and Peterlongo, Paolo and Manoukian, Siranoush and Barile, Monica and Viel, Alessana and Radice, Paolo and Phelan, Catherine and Narod, Steven and Rennert, Gad and Lejbkowicz, Flavio and Flugelman, Anath and Anulis, Irene and Glendon, Gord and Ozcelik, Hilmi and Toland, Amanda and Montagna, Marco and D'Anea, Emma and Friedman, Eitan and Laitman, Yael and Borg, Åke and Beattie, Mary and Ramus, Susan and Domchek, Susan and Nathanson, Katherine and Rebbeck, Timothy and Spurdle, Amanda and Chen, Xiaoqing and Holland, Helene and John, Esther and Hopper, John and Buys, Sauna and Daly, Mary and Southey, Melissa and Terry, Mary-beth and Tung, Nadine and Hansen, Thomas and Nielsen, Finn and Greene, Mark and Mai, Phuong and Osorio, Ana and Duran, M and Anes, Raquel and Benítez, Javier and Weitzel, Jeffrey and Garber, Judy and Hamann, Ute and Peock, Susan and Cook, Margaret and Oliver, Clare and Frost, Debra and Platte, Radka and Evans, Gareth and Lalloo, Fiona and Eeles, Rosalind and Izatt, Louise and Walker, Lisa and Eason, Jacqueline and Barwell, Julian and ... and HEBON Study Collaborators and GEMO Study Collaborators and kConFab and OCGN and EMBRACE and Onkologi och Patologi, MV and Lund University and Oncology and Pathology, MV and Lunds universitet
P L o S Genetics (Print), ISSN 1553-7390, 10/2010, Volume 6, Issue 10, pp. 1 - 12
Journal Article