Browsing Genetics by Author "Jansen van Rensburg, Elizabeth"

Browsing Genetics by Author "Jansen van Rensburg, Elizabeth"

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  • Assessing associations between the AURKAHMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers 
    Blanco, Ignacio; Kuchenbaecker, Karoline; Cuadras, Daniel; Wang, Xianshu; Barrowdale, Daniel; De Garibay, Gorka Ruiz; Librado, Pablo; Sanchez-Gracia, Alejandro; Rozas, Julio; Bonifaci, Nuria; McGuffog, Lesley; Pankratz, Vernon S.; Islam, Abul; Mateo, Francesca; Berenguer, Antoni; Petit, Anna; Catala, Isabel; Brunet, Joan; Feliubadalo, Lidia; Tornero, Eva; Benitez, Javier; Osorio, Ana; Cajal, Teresa Ramony; Nevanlinna, Heli; Aittomaki, Kristiina; Arun, Banu K.; Toland, Amanda Ewart; Karlan, Beth Y.; Walsh, Christine; Lester, Jenny; Greene, Mark H.; Mai, Phuong L.; Nussbaum, Robert L.; Andrulis, Irene L.; Domchek, Susan M.; Nathanson, Katherine L.; Rebbeck, Timothy R.; Barkardottir, Rosa B.; Jakubowska, Anna; Lubinski, Jan; Durda, Katarzyna; Jaworska-Bieniek, Katarzyna; Claes, Kathleen; Van Maerken, T.; Diez, Orland; Hansen, Thomas V.O.; Jonson, Lars; Gerdes, Anne-Marie; Ejlertsen, Bent; De la Hoya, Miguel; Caldes, Trinidad; Dunning, Alison M.; Oliver, Clare; Fineberg, Elena; Cook, Margaret; Peock, Susan; McCann, Emma; Murray, Alex; Jacobs, Chris; Pichert, Gabriella; Lalloo, Fiona; Chu, Carol; Dorkins, Huw; Paterson, Joan; Ong, Kai-Ren; Teixeira, Manuel R.; Teixeira; Hogervorst, Frans B.L.; Van der Hout, Annemarie H.; Seynaeve, Caroline; Van der Luijt, Rob B.; Ligtenberg, Marjolijn J.L.; Devilee, Peter; Wijnen, Juul T.; Rookus, Matti A.; Meijers-Heijboer, Hanne E.J.; Blok, Marinus J.; Van den Ouweland, Ans M.W.; Aalfs, Cora M.; Rodriguez, Gustavo C.; Phillips, Kelly-Anne A.; Piedmonte, Marion; Nerenstone, Stacy R.; Bae-Jump, Victoria L.; O'Malley, David M.; Ratner, Elena S.; Schmutzler, Rita K.; Wappenschmidt, Barbara; Rhiem, Kerstin; Engel, Christoph; Meindl, Alfons; Ditsch, Nina; Arnold, Norbert; Plendl, Hansjoerg; Niederacher, Dieter; Sutter, Christian; Wang-Gohrke, Shan; Steinemann, Doris; Preisler-Adams, Sabine; Kast, Karin; Varon-Mateeva, Raymonda; Gehrig, Andrea; Bojesen, Anders; Pedersen, Inge Sokilde; Sunde, Lone; Jensen, Uffe Birk; Thomassen, Mads; Kruse, Torben A.; Foretova, Lenka; Peterlongo, Paolo; Bernard, Loris; Peissel, Bernard; Scuvera, Giulietta; Manoukian, Siranoush; Radice, Paolo; Ottini, Laura; Montagna, Marco; Agata, Simona; Maugard, Christine; Simard, Jacques; Soucy, Penny; Berger, Andreas; Fink-Retter, Anneliese; Singer, Christian F.; Rappaport, Christine; Geschwantler-Kaulich, Daphne; Tea, Muy-Kheng; Pfeiler, Georg; BCFR (Breast Cancer Family Registry); John, Esther M.; Miron, Alexander; Neuhausen, Susan L.; Terry, Mary Beth; Chung, Wendy K.; Daly, Mary B.; Goldgar, David E.; Janavicius, Ramunas; Dorfling, Cecilia Maria; Jansen van Rensburg, Elizabeth; Fostira, Florentia; Konstantopoulou, Irene; Garber, Judy; Godwin, Andrew K.; Olah, Edith; Narod, Steven A.; Rennert, Gad; Paluch, Shani Shimon; Laitman, Yael; Friedman, Eitan; SWE-BRCA; Liljegren, Annelie; Rantala, Johanna; Stenmark-Askmalm, Marie; Loman, Niklas; Imyanitov, Evgeny N.; Hamann, Ute; Investigators, kConFab; Spurdle, Amanda B.; Healey, Sue; Weitzel, Jeffrey N.; Herzog, Josef; Margileth, David; Gorrini, Chiara; Esteller, Manel; Gomez, Antonio; Sayols, Sergi; Vidal, Enrique; Heyn, Holger; GEMO; Stoppa-Lyonnet, Dominique; Leone, Melanie; Barjhoux, Laure; Fassy-Colcombet, Marion; De Pauw, Antoine; Lasset, Christine; Ferrer, Sandra Fert; Castera, Laurent; Berthet, Pascaline; Cornelis, Francois; Bignon, Yves-Jean; Damiola, Francesca; Mazoyer, Sylvie; Sinilnikova, Olga M.; Maxwell, Christopher A.; Vijai, Joseph; Robson, Mark; Kauff, Noah; Corines, Marina J.; Villano, Danylko; Cunningham, Julie M.; Lee, Adam; Lindor, Noralane; Lázaro, Conxi; Easton, Douglas F.; Offit, Kenneth; Chenevix-Trench, Georgia; Couch, Fergus J.; Antoniou, Antonis C.; Pujana, Miguel Angel (Public Library of Science, 2015-04-01)
    While interplay between BRCA1 and AURKA-RHAMM-TPX2-TUBG1 regulates mammary epithelial polarization, common genetic variation in HMMR (gene product RHAMM) may be associated with risk of breast cancer in BRCA1 mutation ...
  • Association of type and location of BRCA1 and BRCA2 mutations with risk of breast and ovarian cancer 
    Rebbeck, Timothy R.; Mitra, Ruchira; Wan, F.; Sinilnikova, Olga M.; Healey, Sue; McGuffog, Lesley; Chenevix-Trench, Georgia; Easton, Douglas F.; Antoniou, Antonis C.; Nathanson, Katherine L.; Laitman, Yael; Kushnir, A.; Paluch-Shimon, S.; Berger, R.; Zidan, Jamal; Friedman, Eitan; Ehrencrona, Hans; Stenmark-Askmalm, Marie; Einbeigi, Zakaria; Loman, Niklas; Harbst, K.; Rantala, Johanna; Melin, B.; Huo, Dezheng; Olopade, O.I.; Seldon, J.; Ganz, Patricia A.; Nussbaum, Robert L.; Chan, S.B.; Odunsi, Kunle; Gayther, Simon; Domchek, Susan M.; Arun, Banu K.; Lu, Karen H.; Mitchell, Graham; Karlan, Beth Y.; Walsh, Christine; Lester, Jenny; Godwin, Andrew K.; Pathak, H.,; Ross, E.; Daly, Mary B.; Whittemore, Alice S.; John, Esther M.; Miron, Alexander; Terry, Mary Beth; Chung, Wendy K.; Goldgar, David E.; Buys, Saundra S.; Janavičius, R.; Tihomirova, Laima; Tung, Nadine; Dorfling, Cecilia Maria; Jansen van Rensburg, Elizabeth (American Medical Association, 2015-04)
    IMPORTANCE : Limited information about the relationship between specific mutations in BRCA1 or BRCA2 (BRCA1/2) and cancer risk exists. OBJECTIVE : To identify mutation-specific cancer risks for carriers of BRCA1/2. DESIGN, ...
  • BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry 
    Friebel, Tara M.; Andrulis, Irene L.; Balmana, Judith; Blanco, Amie M.; Couch, Fergus J.; Daly, Mary B.; Domchek, Susan M.; Easton, Douglas F.; Foulkes, William D.; Ganz, Patricia A.; Garber, Judy; Glendon, Gord; Greene, Mark H.; Hulick, Peter J.; Isaacs, Claudine; Jankowitz, Rachel C.; Karlan, Beth Y.; Kirk, Judy; Kwong, Ava; Lee, Annette; Lesueur, Fabienne; Lu, Karen H.; Nathanson, Katherine L.; Neuhausen, Susan L.; Offit, Kenneth; Palmero, Edenir I.; Sharma, Priyanka; Tischkowitz, Marc; Toland, Amanda Ewart; Tung, Nadine; Jansen van Rensburg, Elizabeth; Vega, Ana; Weitzel, Jeffrey N.; GEMO Study Collaborators; Hoskins, Kent F.; Maga, Tara; Parsons, Michael T.; McGuffog, Lesley; Antoniou, Antonis C.; Chenevix-Trench, Georgia; Huo, Dezheng; Olopade, Olufunmilayo I. (Wiley, 2019-10)
    BRCA1 and BRCA2 (BRCA1/2) pathogenic sequence variants (PSVs) confer elevated risks of multiple cancers. However, most BRCA1/2 PSVs reports focus on European ancestry individuals. Knowledge of the PSV distribution in African ...
  • BRCA1 R1699Q variant displaying ambiguous functional abrogation confers intermediate breast and ovarian cancer risk 
    Spurdle, Amanda B.; Whiley, Phillip J.; Thompson, Bryony; Feng, Bingjian; Healey, Sue; Brown, Melissa A.; Pettigrew, Christopher; Van Asperen, Christi J.; Ausems, Margreet G.E.M.; Kattentidt-Mouravieva, Anna A.; Van den Ouweland, Ans M.W.; Lindblom, Annika; Pigg, Maritta H.; Schmutzler, Rita K.; Engel, Christoph; Meindl, Alfons; Caputo, Sandrine; Sinilnikova, Olga M.; Lidereau, Rosette; Couch, Fergus J.; Guidugli, Lucia; Hansen, Thomas V.O.; Thomassen, Mads; Eccles, Diana M.; Tucker, Kathy; Benitez, Javier; Domchek, Susan M.; Toland, Amanda Ewart; Jansen van Rensburg, Elizabeth; Wappenschmidt, Barbara; Borg, Ake; Vreeswijk, Maaike P.G.; Goldgar, David E. (BMJ Publishing Group Ltd, 2012-08)
    BACKGROUND: Clinical classification of rare sequence changes identified in the breast cancer susceptibility genes BRCA1 and BRCA2 is essential for appropriate genetic counseling of individuals carrying these variants. We ...
  • The BRCA2 c.68-7T > a variant is not pathogenic : a model for clinical calibration of spliceogenicity 
    Colombo, Mara; Lòpez-Perolio, Irene; Meeks, Huong D.; Caleca, Laura; Parsons, Michael T.; Li, Hongyan; De Vecchi, Giovanna; Tudini, Emma; Foglia, Claudia; Mondini, Patrizia; Manoukian, Siranoush; Behar, Raquel; Gómez Garci, Encarna B.; Meindl, Alfons; Montagna, Marco; Niederacher, Dieter; Schmidt, Ane Y.; Varesco, Liliana; Wappenschmidt, Barbara; Bolla, Manjeet K.; Dennis, Joe; Michailido, Kyriaki; Wang, Qin; Aittomäki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Beckmnn, Matthias W.; Beeghly-Fadel, Alicia; Benitez, Javier; Boeckx, Bram; Bogdanova, Natalia V.; Bojesen, Stig E.; Bonanni, Bernardo; Chang-Claude, Jenny; Conroy, Don M.; Couch, Fergus J.; Cox, Angela; Cross, Simon S.; Czene, Kamila; Devilee, Peter; Dörk, Thilo; Eriksson, Mikael; Fasching, Peter A.; Figueroa, Jonine; Fletcher, Olivia; Flyger, Henrik; Gabrielson, Marike; García-Closas, Montserrat; Giles, Graham G.; González-Neira, Anna; Guénel, Pascal; Haiman, Christopher A.; Hall, Per; Hamann, Ute; Hartman, Mikael; Hauke, Jan; Hollestelle, Antoinette; Hopper, John L.; Jakubowska, Anna; Jung, Audrey; Kosma, Veli-Matti; Lambrechts, Diether; Le Marchand, Loid; Lindblom, Annika; Lubinski, Jan; Mannermaa, Arto; Margolin, Sara; Miao, Hui; Milne, Roger L.; Neuhausen, Susan L.; Nevanlinna, Heli; Olson, Janet E.; Peterlongo, Paolo; Peto, Julian; Pylkäs, Katri; Sawyer, Elinor J.; Schmidt, Marjanka K.; Schmutzler, Rita K.; Schneeweiss, Andreas; Schoemaker, Minouk J.; See, Mee Hoong; Southey, Melissa C.; Swerdlow, Anthony; Teo, Soo H.; Toland, Amanda E.; Tomlinson, Ian; Truong, Therese; Van Asperen, Christi J.; Van den Ouweland, Ans M.W.; Van der Kolk, Lizet E.; Winqvist, Robert; Yannoukakos, Drakoulis; Zheng, Wei; Dunning, Alison M.; Easton, Douglas F.; Henderson, Alex; Hogervorst, Frans B.L.; Izatt, Louise; Offitt, Kenneth; Side, Lucy E.; Jansen van Rensburg, Elizabeth; McGuffog, Lesley; Antoniou, Antonis C.; Chenevix-Trench, Georgia; Spurdle, Amanda B.; Goldgar, David E.; De la Hoya, Miguel; Radice, Paolo (Wiley, 2018-05)
    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, we accurately quantified by real-time PCR and digital PCR ...
  • Cancer prevalence in 129 breast-ovarian cancer families tested for BRCA1 and BRCA2 mutations 
    Schlebusch, Carina M.; Dreyer, Greta; Sluiter, M.D.; Yawitch, T.M.; Van den Berg, H.J.; Jansen van Rensburg, Elizabeth (Health and Medical Publishing Group, 2010-02)
    BACKGROUND: Women who carry germline mutations in the breast-ovarian cancer susceptibility genes, BRCA1 and BRCA2, are at very high risk of developing breast and / or ovarian cancer. Both genes are tumour suppressor genes ...
  • Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers 
    Dorfling, Cecilia Maria; Peterlongo, Paolo; Chang-Claude, Jenny; Moysich, K.B.; Rudolph, A.; Schmutzler, Rita Katharina; Simard, Jacques; Soucy, Penny; Eeles, Rosalind A.; Easton, Douglas F.; Hamann, Ute; Wilkening, S.; Chen, B.; Rookus, Matti A.; Schmidt, Marjanka K.; Van Der Baan, F.H.; Spurdle, Amanda B.; Walker, L.C.; Lose, F.; Maia, A-T.; Montagna, Marco; Matricardi, L.; Lubinski, Jan; Jakubowska, Anna; Garcia, E.B.G.; Olopade, Olufunmilayo I.; Nussbaum, R.L.; Nathanson, Katherine L.; Domchek, Susan M.; Rebbeck, Timothy R.; Arun, Banu K.; Karlan, Beth Y.; Orsulic, Sandra; Lester, Jenny; Chung, Wendy K.; Miron, Alexander; Southey, Melissa C.; Goldgar, David E.; Buys, Saundra S.; Janavicius, Ramunas; Jansen van Rensburg, Elizabeth; Ding, Yuan Chun; Neuhausen, Susan L.; Hansen, Thomas V.O.; Gerdes, Anne-Marie; Ejlertsen, Bent; Jønson, L.; Osorio, Ana; Martínez-Bouzas, C.; Benitez, Javier; Conway, E.E.; Blazer, K.R.; Weitzel, Jeffrey N.; Manoukian, Siranoush; Peissel, Bernard; Zaffaroni, D.; Scuvera, G.; Barile, Monica; Ficarazzi, F.; Mariette, F.; Fortuzzi, S.; Viel, Alessandra; Gianotti, Giacomo; Papi, Laura; Martayan, A.; Tibiletti, Maria Grazia; Radice, Paolo; Fostira, Florentia; Garber, Judy; Donaldson, Alan; Brewer, Carole; Foo, Claire; Evans, D.G.R.; Frost, Debra; Eccles, Diana M.; Brady, A.; Cook, Jackie; Tischkowitz, Marc; Adlard, Julian; Barwell, J.; Walker, L.; Izatt, Louise; Side, Lucy E.; Kennedy, M.J.; Rogers, Mark T.; Porteous, Mary E.; Morrison, Patrick J.; Platte, Radka; Davidson, Richard S.; Hodgson, Shirley V.; Ellis, Steve; Cole, T.; Godwin, Andrew K.; Claes, Kathleen; Van Maerken, T.; Meindl, Alfons; Gehrig, Andrea; Sutter, Christian; Engel, Christoph; Niederacher, Dieter; Steinemann, Doris; Plendl, Hansjoerg; Kast, Karin; Rhiem, Kerstin; Ditsch, Nina; Arnold, Norbert; Varon-Mateeva, Raymonda; Wappenschmidt, Barbara; Wang-Gohrke, S.; Bressac-De Paillerets, B.; Buecher, B.; Delnatte, Capucine; Houdayer, Claude; Stoppa-Lyonnet, Dominique; Damiola, Francesca; Coupier, Isabelle; Barjhoux, Laure; Venat-Bouvet, Laurence; Golmard, Lisa; Boutry-Kryza, N.; Sinilnikova, Olga M.; Caron, O.; Pujol, Pascal; Mazoyer, Sylvie; Belotti, Muriel; Piedmonte, Marion; Friedlander, Michael L.; Rodriguez, Gustavo C.; Copeland, L.J.; De la Hoya, Miguel; Segura, P.P.; Nevanlinna, Heli; Aittomäki, K.; Van Os, Theo A.M.; Meijers-Heijboer, Hanne E.J.; Van der Hout, Annemarie H.; Vreeswijk, Maaike P.G.; Hoogerbrugge, N.; Ausems, Margreet G.E.M.; Van Doorn, H.C.; Collee, J.M.; Olah, Edith; Diez, Orland; Blanco, Ignacio; Lazaro, Conxi; Brunet, Joan; Feliubadalo, Lidia; Cybulski, C.; Gronwald, Jacek; Durda, Katarzyna; Jaworska-Bieniek, K.; Sukiennicki, G.; Arason, Adalgeir; Chiquette, J.; Teixeira, M.R.; Olswold, Curtis; Couch, Fergus J.; Lindor, Noralane M.; Wang, Xianshu; Szabo, Csilla I.; Offit, Kenneth; Corines, Marina J.; Jacobs, L. (Liesel); Robson, Mark E.; Zhang, L.; Joseph, V.; Berger, Andreas; Singer, Christian F.; Rappaport, Christine; Kaulich, D.G.; Pfeiler, Georg; Tea, Muy-Kheng M.; Phelan, Catherine M.; Greene, Mark H.; Mai, Phuong L.; Rennert, Gad; Mulligan, Anna Marie; Glendon, Gord; Tchatchou, S.; Andrulis, Irene L.; Toland, Amanda Ewart; Bojesen, Anders; Pedersen, Inge Sokilde; Thomassen, Mads; Jensen, Uffe Birk; Laitman, Yael; Rantala, J.; Von Wachenfeldt, A.; Ehrencrona, Hans; Askmalm, M.S.; Borg, Ake; Kuchenbaecker, Karoline B.; McGuffog, Lesley; Barrowdale, Daniel; Healey, Sue; Lee, Adam; Pharoah, Paul D.P.; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Friedman, Eitan (American Association for Cancer Research, 2015-01)
    BACKGROUND: BRCA1 and BRCA2 mutation carriers are at substantially increased risk for developing breast and ovarian cancer. The incomplete penetrance coupled with the variable age at diagnosis in carriers of the same ...
  • Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers 
    Hakkaart, Christopher; Pearson, John F.; Marquart, Louise; Dennis, Joe; Wiggins, George A.R.; Barnes, Daniel R.; Robinson, Bridget A.; Mace, Peter D.; Aittomaki, Kristiina; Andrulis, Irene L.; Arun, Banu K.; Azzollini, Jacopo; Balmana, Judith; Barkardottir, Rosa B.; Belhadj, Sami; Berger, Lieke; Blok, Marinus J.; Boonen, Susanne E.; Borde, Julika; Bradbury, Angela R.; Brunet, Joan; Buys, Saundra S.; Caligo, Maria A.; Campbell, Ian; Chung, Wendy K.; Claes, Kathleen B.M.; GEMO Study Collaborators; EMBRACE Collaborators; Collonge-Rame, Marie-Agnes; Cook, Jackie; Cosgrove, Casey; Couch, Fergus J.; Daly, Mary B.; Dandiker, Sita; Davidson, Rosemarie; De la Hoya, Miguel; De Putter, Robin; Delnatte, Capucine; Dhawan, Mallika; Diez, Orland; Ding, Yuan Chun; Domchek, Susan M.; Donaldson, Alan; Eason, Jacqueline; Easton, Douglas F.; Ehrencrona, Hans; Engel, Christoph; Evans, D. Gareth; Faust, Ulrike; Feliubadalo, Lidia; Fostira, Florentia; Friedman, Eitan; Frone, Megan; Frost, Debra; Garber, Judy; Gayther, Simon A.; Gehrig, Andrea; Gesta, Paul; Godwin, Andrew K.; Goldgar, David E.; Greene, Mark H.; Hahnen, Eric; Hake, Christopher R.; Hamann, Ute; Hansen, Thomas V.O.; Hauke, Jan; Hentschel, Julia; Herold, Natalie; Honisch, Ellen; Hulick, Peter J.; Imyanitov, Evgeny N.; SWE-BRCA Investigators; kConFab Investigators; HEBON Investigators; Isaacs, Claudine; Izatt, Louise; Izquierdo, Angel; Jakubowska, Anna; James, Paul A.; Janavicius, Ramunas; John, Esther M.; Joseph, Vijai; Karlan, Beth Y.; Kemp, Zoe; Kirk, Judy; Konstantopoulou, Irene; Koudijs, Marco; Kwong, Ava; Laitman, Yael; Lalloo, Fiona; Lasset, Christine; Lautrup, Charlotte; Lazaro, Conxi; Legrand, Clementine; Leslie, Goska; Lesueur, Fabienne; Mai, Phuong L.; Manoukian, Siranoush; Mari, Veronique; Martens, John W.M.; McGuffog, Lesley; Mebirouk, Noura; Meindl, Alfons; Miller, Austin; Montagna, Marco; Moserle, Lidia; Mouret-Fourme, Emmanuelle; Musgrave, Hannah; Nambot, Sophie; Nathanson, Katherine L.; Neuhausen, Susan L.; Nevanlinna, Heli; Yuen Yie, Joanne Ngeow; Nguyen-Dumont, Tu; Nikitina-Zake, Liene; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I.; Osorio, Ana; Ott, Claus-Eric; Park, Sue K.; Parsons, Michael T.; Pedersen, Inge Sokilde; Peixoto, Ana; Perez-Segura, Pedro; Peterlongo, Paolo; Pocza, Timea; Radice, Paolo; Ramser, Juliane; Rantala, Johanna; Rodriguez, Gustavo C.; Ronlund, Karina; Rosenberg, Efraim H.; Rossing, Maria; Schmutzler, Rita K.; Shah, Payal D.; Sharif, Saba; Sharma, Priyanka; Side, Lucy E.; Simard, Jacques; Singer, Christian F.; Snape, Katie; Steinemann, Doris; Stoppa-Lyonnet, Dominique; Sutter, Christian; Tan, Yen Yen; Teixeira, Manuel R.; Teo, Soo Hwang; Thomassen, Mads; Thull, Darcy L.; Tischkowitz, Marc; Toland, Amanda E.; Trainer, Alison H.; Tripathi, Vishakha; Tung, Nadine; Van Engelen, Klaartje; Jansen van Rensburg, Elizabeth; Vega, Ana; Viel, Alessandra; Weitzel, Jeffrey N.; Wevers, Marike R.; Chenevix-Trench, Georgia; Spurdle, Amanda B.; Antoniou, Antonis C. (Springer Nature, 2022-10-06)
    The contribution of germline copy number variants (CNVs) to risk of developing cancer in individuals with pathogenic BRCA1 or BRCA2 variants remains relatively unknown. We conducted the largest genome-wide analysis of ...
  • DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers 
    Osorio, Ana; Milne, Roger L.; Kuchenbaecker, Karoline B.; Vaclova, Tereza; Pita, Guillermo; Alonso, Rosario; Peterlongo, Paolo; Blanco, Ignacio; De la Hoya, Miguel; Duran, Mercedes; Diez, Orland; Ramon y Cajal, Teresa; Konstantopoulou, Irene; Martinez-Bouzas, Cristina; Conejero, Raquel Andres; Soucy, Penny; McGuffog, Lesley; Barrowdale, Daniel; Lee, Andrew; SWE-BRCA; Arver, Brita; Rantala, Johanna; Loman, Niklas; Ehrencrona, Hans; Olopade, Olufunmilayo I.; Beattie, Mary S.; Domchek, Susan M.; Nathanson, Katherine L.; Rebbeck, Timothy R.; Arun, Banu K.; Karlan, Beth Y.; Walsh, Christine; Lester, Jenny; John, Esther M.; Whittemore, Alice S.; Daly, Mary B.; Southey, Melissa; Hopper, John; Terry, Mary Beth; Buys, Saundra S.; Janavicius, Ramunas; Dorfling, Cecilia Maria; Jansen van Rensburg, Elizabeth; Steele, Linda; Neuhausen, Susan L.; Ding, Yuan Chun; Hansen, Thomas v. O.; Jønson, Lars; Ejlertsen, Bent; Gerdes, Anne-Marie; Infante, Mar; Herraez, Belen; Moreno, Leticia Thais; Weitzel, Jeffrey N.; Herzog, Josef; Weeman, Kisa; Manoukian, Siranoush; Peissel, Bernard; Zaffaroni, Daniela; Scuvera, Giulietta; Bonanni, Bernardo; Mariette, Frederique; Volorio, Sara; Viel, Alessandra; Varesco, Liliana; Papi, Laura; Ottini, Laura; Tibiletti, Maria Grazia; Radice, Paolo; Yannoukakos, Drakoulis; Garber, Judy; Ellis, Steve; Frost, Debra; Platte, Radka; Fineberg, Elena; Evans, Gareth; Lalloo, Fiona; Izatt, Louise; Eeles, Ros; Adlard, Julian; Davidson, Rosemarie; Cole, Trevor; Eccles, Diana M.; Cook, Jackie; Hodgson, Shirley; Brewer, Carole; Tischkowitz, Marc; Douglas, Fiona; Porteous, Mary E.; Side, Lucy; Walker, Lisa; Morrison, Patrick J.; Donaldson, Alan; Kennedy, John; Foo, Claire; Godwin, Andrew K.; Schmutzler, Rita Katharina; Wappenschmidt, Barbara; Rhiem, Kerstin; Engel, Christoph; Meindl, Alfons; Ditsch, Nina; Arnold, Norbert; Plendl, Hansjoerg; Niederacher, Dieter; Sutter, Christian; Wang-Gohrke, Shan; Steinemann, Doris; Preisler-Adams, Sabine; Kast, Karin; Varon-Mateeva, Raymonda; Gehrig, Andrea; Stoppa-Lyonnet, Dominique; Sinilnikova, Olga M.; Mazoyer, Sylvie; Damiola, Francesca; Poppe, Bruce; Claes, Kathleen; Piedmonte, Marion; Tucker, Kathy; Backes, Floor; Rodriguez, Gustavo; Brewster, Wendy; Wakeley, Katie; Rutherford, Thomas; Caldes, Trinidad; Nevanlinna, Heli; Aittomaki, Kristiina; Rookus, Matti A.; Van Os, Theo A.M.; Van der Kolk, Lizet; De Lange, J.L.; Meijers-Heijboer, Hanne E.J.; Van der Hout, A.H.; Van Asperen, Christi J.; Gomez Garcia, Encarna B.; Hoogerbrugge, Nicoline; Collee, J. Margriet; Van Deurzen, Carolien H.M.; Van der Luijt, Rob B.; Devilee, Peter; HEBON; Olah, Edith; Lazaro, Conxi; Teule, Alex; Menendez, Mireia; Jakubowska, Anna; Cybulsk, Cezary; Gronwald, Jacek; Lubinski, Jan; Durda, Katarzyna; Jaworska-Bieniek, Katarzyna; Johannsson, Oskar Th.; Maugard, Christine; Montagna, Marco; Tognazzo, Silvia; Teixeira, Manuel R.; Healey, Sue; Investigators, kConFab; Olswold, Curtis; Guidugli, Lucia; Lindor, Noralane; Slager, Susan; Szabo, Csilla I.; Vijai, Joseph; Robson, Mark; Kauff, Noah; Zhang, Liying; Rau-Murthy, Rohini; Fink-Retter, Anneliese; Singer, Christian F.; Rappaport, Christine; Geschwantler Kaulich, Daphne; Pfeiler, Georg; Tea, Muy-Kheng; Berger, Andreas; Phelan, Catherine M.; Greene, Mark H.; Mai, Phuong L.; Lejbkowicz, Flavio; Andrulis, Irene L.; Mulligan, Anna Marie; Glendon, Gord; Toland, Amanda Ewart; Bojesen, Anders; Pedersen, Inge Sokilde; Sunde, Lone; Thomassen, Mads; Kruse, Torben A.; Jensen, Uffe Birk; Friedman, Eitan; Laitman, Yael; Shimon, Shani Paluch; Simard, Jacques; Easton, Douglas F.; Offit, Kenneth; Couch, Fergus J.; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Benitez, Javier (Public Library of Science, 2014-04)
    Single Nucleotide Polymorphisms (SNPs) in genes involved in the DNA Base Excision Repair (BER) pathway could be associated with cancer risk in carriers of mutations in the high-penetrance susceptibility genes BRCA1 and ...
  • The FANCM:p.Arg658* truncating variant is associated with risk of triple-negative breast cancer 
    Figlioli, Gisella; Bogliolo, Massimo; Catucci, Irene; Caleca, Laura; Viz Lasheras, Sandra; Pujol, Roser; Kiiski, Johanna I.; Muranen, Taru A.; Barnes, Daniel R.; Dennis, Joe; Michailidou, Kyriaki; Bolla, Manjeet K.; Leslie, Goska; Aalfs, Cora M.; Adank, Muriel A.; Adlard, Julian; Agata, Simona; Cadoo, Karen; Agnarsson, Bjarni A.; Ahearn, Thomas; Aittomaki, Kristiina; Ambrosone, Christine B.; Andrews, Lesley; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arndt, Volker; Arnold, Norbert; Aronson, Kristan J.; Arun, Banu K.; Asseryanis, Ella; Auber, Bernd; Auvinen, Paivi; Azzollini, Jacopo; Balmana, Judith; Barkardottir, Rosa B.; Barrowdale, Daniel; Barwell, Julian; Beane Freeman, Laura E.; Beauparlant, Charles Joly; Beckmann, Matthias W.; Behrens, Sabine; Benitez, Javier; Berger, Raanan; Bermisheva, Marina; Blanco, Amie M.; Blomqvist, Carl; Bogdanova, Natalia V.; Bojesen, Anders; Bojesen, Stig E.; Bonanni, Bernardo; Borg, Ake; Brady, Angela F.; Brauch, Hiltrud; Brenner, Hermann; Brüning, Thomas; Burwinkel, Barbara; Buys, Saundra S.; Caldes, Trinidad; Caliebe, Almuth; Caligo, Maria A.; Campa, Daniele; Campbell, Ian G.; Canzian, Federico; Castelao, Jose E.; Chang-Claude, Jenny; Chanock, Stephen J.; Claes, Kathleen B.M.; Clarke, Christine L.; Collavoli, Anita; Conner, Thomas A.; Cox, David G.; Cybulski, Cezary; Czene, Kamila; Daly, Mary B.; De la Hoya, Miguel; Devilee, Peter; Diez, Orland; Ding, Yuan Chun; Dite, Gillian S.; Ditsch, Nina; Domchek, Susan M.; Dorfling, Cecilia Maria; Dos-Santos-Silva, Isabel; Durda, Katarzyna; Dwek, Miriam; Eccles, Diana M.; Ekici, Arif B.; Eliassen, A. Heather; Ellberg, Carolina; Eriksson, Mikael; Evans, D. Gareth; Fasching, Peter A.; Figueroa, Jonine; Flyger, Henrik; Foulkes, William D.; Friebel, Tara M.; Friedman, Eitan; Gabrielson, Marike; Gaddam, Pragna; Gago-Dominguez, Manuela; Gao, Chi; Gapstur, Susan M.; Garber, Judy; García-Closas, Montserrat; Garcia-Saenz, Jose A.; Gaudet, Mia M.; Gayther, Simon A.; Giles, Graham G.; Glendon, Gord; Godwin, Andrew K.; Goldberg, Mark S.; Goldgar, David E.; Guenel, Pascal; Gutierrez-Barrera, Angelica M.; Haeberle, Lothar; Haiman, Christopher A.; Hakansson, Niclas; Hall, Per; Hamann, Ute; Harrington, Patricia A.; Hein, Alexander; Heyworth, Jane; Hillemanns, Peter; Hollestelle, Antoinette; Hopper, John L.; Hosgood III, H. Dean; Howell, Anthony; Hu, Chunling; Hulick, Peter J.; Hunter, David J.; Imyanitov, Evgeny N.; Isaacs, Claudine; Jakimovska, Milena; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Janni, Wolfgang; John, Esther M.; Jones, Michael E.; Jung, Audrey; Kaaks, Rudolf; Karlan, Beth Y.; Khusnutdinova, Elza; Kitahara, Cari M.; Konstantopoulou, Irene; Koutros, Stella; Kraft, Peter; Lambrechts, Diether; Lazaro, Conxi; Le Marchand, Loic; Lester, Jenny; Lesueur, Fabienne; Lilyquist, Jenna; Loud, Jennifer T.; Lu, Karen H.; Luben, Robert N.; Lubinski, Jan; Mannermaa, Arto; Manoochehri, Mehdi; Manoukian, Siranoush; Margolin, Sara; Martens, John W.M.; Maurer, Tabea; Mavroudis, Dimitrios; Sohn, Christof; Soucy, Penny; Southey, Melissa C.; Spinelli, John J.; Steele, Linda; Stoppa-Lyonnet, Dominique; Tapper, William J.; Teixeira, Manuel R.; Terry, Mary Beth; Thomassen, Mads; Thompson, Jennifer; Thull, Darcy L.; Tischkowitz, Marc; Tollenaar, Rob A.E.M.; Torres, Diana; Troester, Melissa A.; Truong, Therese; Tung, Nadine; Untch, Michael; Vachon, Celine M.; Jansen van Rensburg, Elizabeth; Van Veen, Elke M.; Vega, Ana; Viel, Alessandra; Wappenschmidt, Barbara; Weitzel, Jeffrey N.; Wendt, Camilla; Wieme, Greet; Wolk, Alicja; Yang, Xiaohong R.; Zheng, Wei; Ziogas, Argyrios; Zorn, Kristin K.; Dunning, Alison M.; Lush, Michael; Wang, Qin; McGuffog, Lesley; Parsons, Michael T.; Pharoah, Paul D.P.; Fostira, Florentia; Toland, Amanda Ewart; Andrulis, Irene L.; Ramus, Susan J.; Swerdlow, Anthony J.; Greene, Mark H.; Chung, Wendy K.; Milne, Roger L.; Chenevix-Trench, Georgia; Dork, Thilo; Schmidt, Marjanka K.; Easton, Douglas F.; Radice, Paolo; Hahnen, Eric; Antoniou, Antonis C.; Couch, Fergus J.; Nevanlinna, Heli; Surralles, Jordi; Peterlongo, Paolo (Nature Research, 2019-12)
    Breast cancer is a common disease partially caused by genetic risk factors. Germline pathogenic variants in DNA repair genes BRCA1, BRCA2, PALB2, ATM, and CHEK2 are associated with breast cancer risk. FANCM, which encodes ...
  • Functional mechanisms underlying pleiotropic risk alleles at the 19p13.1 breast-ovarian cancer susceptibility locus 
    Lawrenson, Kate; Kar, Siddhartha; McCue, Karen; Kuchenbaeker, Karoline; Michailidou, Kyriaki; Tyrer, Jonathan; Beesley, Jonathan; Ramus, Susan J.; Li, Qiyuan; Delgado, Melissa K.; Lee, Janet M.; Aittomaki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Arun, Banu K.; Arver, Brita; Bandera, Elisa V.; Barile, Monica; Barkardottir, Rosa B.; Barrowdale, Daniel; Beckmann, Matthias W.; Benitez, Javier; Berchuck, Andrew; Bisogna, Maria; Bjorge, Line; Blomqvist, Carl; Blot, William; Bogdanova, Natalia; Bojesen, Anders; Bojesen, Stig E.; Bolla, Manjeet K.; Bonanni, Bernardo; Borresen-Dale, Anne-Lise; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Bruinsma, Fiona; Brunet, Joan; Buhari, Shaik Ahmad; Burwinkel, Barbara; Butzow, Ralf; Buys, Saundra S.; Cai, Qiuyin; Caldes, Trinidad; Canniotto, Rikki; Chang-Claude, Jenny; Chiquette, Jocelyne; Choi, Ji-Yeob; Claes, Kathleen B.M.; GEMO Study Collaborators; Campbell, Ian; Cook, Linda S.; Cox, Angela; Cramer, Daniel W.; Cross, Simon S.; Cybulski, Cezary; Czene, Kamila; Daly, Mary B.; Damiola, Francesca; Dansonka-Mieszkowskaÿÿ, Agnieszka; Darabi, Hatef; Dennis, Joe; Devilee, Peter; Diez, Orland; Doherty, Jennifer A.; Domchek, Susan M.; Dorfling, Cecilia Maria; Dork, Thilo; Dumont, Martine; Ehrencrona, Hans; Ejlertsen, Bent; Ellis, Steve; EMBRACE; Engel, Christoph; Lee, Eunjung; Evans, D. Gareth; Fasching, Peter A.; Feliubadalo, Lidia; Figueroa, Jonine; Flesch-Janys, Dieter; Fletcher, Olivia; Flyger, Henrik; Foretova, Lenka; Fostira, Florentia; Foulkes, William D.; Fridley, Brooke L.; Friedman, Eitan; Frost, Debra; Gambino, Gaetana; Garber, Judy; Garcıa-Closas, Montserrat; Gentry-Maharaj, Aleksandra; Ghoussaini, Maya; Giles, Graham G.; Glasspool, Rosalind; Godwin, Andrew K.; Goldberg, Mark S.; Goldgar, David E.; Gonzalez-Neira, Anna; Goode, Ellen L.; Goodman, Marc T.; Greene, Mark H.; Gronwald, Jacek; Guenel, Pascal; Haiman, Christopher A.; Hall, Per; Hallberg, Emily; Hamann, Ute; Hansen, Thomas V.O.; Harrington, Patricia A.; Hartman, Mikael; Hassan, Norhashimah; Healey, Sue; The Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON); Heitz, Florian; Herzog, Josef; Hogdall, Estrid; Hogdall, Claus K.; Hogervorst, Frans B.L.; Hollestelle, Antoinette; Hopper, John L.; Hulick, Peter J.; Huzarski, Tomasz; Imyanitov, Evgeny N.; KConFab Investigators; Australian Ovarian Cancer Study Group; Isaacs, Claudine; Ito, Hidemi; Jakubowska, Anna; Janavicius, Ramunas; Jensen, Allan; John, Esther M.; Johnson, Nichola; Kabisch, Maria; Kang, Daehee; Kapuscinski, Miroslav; Karlan, Beth Y.; Khan, Sofia; Kiemeney, Lambertus A.; Kjaer, Susanne Kruger; Knight, Julia A.; Konstantopoulou, Irene; Kosma, Veli-Matti; Kristensen, Vessela; Kupryjanczyk, Jolanta; Kwong, Ava; De la Hoya, Miguel; Laitman, Yael; Lambrechts, Diether; Le, Nhu; De Leeneer, Kim; Lester, Jenny; Levine, Douglas A.; Li, Jingmei; Lindblom, Annika; Long, Jirong; Lophatananon, Artitaya; Loud, Jennifer T.; Lu, Karen; Lubinski, Jan; Mannermaa, Arto; Manoukian, Siranoush; Le Marchand, Loic; Margolin, Sara; Marme, Frederik; Massuger, Leon F.A.G.; Matsuo, Keitaro; Mazoyer, Sylvie; McGuffog, Lesley; McLean, Catriona; McNeish, Iain; Meindl, Alfons; Menon, Usha; Mensenkamp, Arjen R.; Milne, Roger L.; Montagna, Marco; Moysich, Kirsten B.; Muir, Kenneth; Mulligan, Anna Marie; Nathanson, Katherine L.; Ness, Roberta B.; Neuhausen, Susan L.; Nevanlinna, Heli; Nord, Silje; Nussbaum, Robert L.; Odunsi, Kunle; Offit, Kenneth; Olopade, Olufunmilayo I.; Olson, Janet E.; Olswold, Curtis; O’Malley, David; Orlow, Irene; Orr, Nick; Osorio, Ana; Park, Sue Kyung; Pearce, Celeste L.; Pejovic, Tanja; Peterlongo, Paolo; Pfeiler, Georg; Phelan, Catherine M.; Poole, Elizabeth M.; Pylkas, Katri; Radice, Paolo; Rantala, Johanna; Rashid, Muhammad Usman; Rennert, Gad; Rhenius, Valerie; Rhiem, Kerstin; Risch, Harvey A.; Rodriguez, Guz; Rossing, Mary Anne; Rudolph, Anja; Salvesen, Helga B.; Sangrajrang, Suleeporn; Sawyer, Elinor J.; Schildkraut, Joellen M.; Schmidt, Marjanka K.; Schmutzler, Rita K.; Sellers, Thomas A.; Seynaeve, Caroline; Shah, Mitul; Shen, Chen-Yang; Shu, Xiao-Ou; Sieh, Weiva; Singer, Christian F.; Sinilnikova, Olga M.; Slager, Susan; Song, Honglin; Soucy, Penny; Southey, Melissa C.; Stenmark-Askmalm, Marie; Stoppa-Lyonnet, Dominique; Teo, Soo H.; Terry, Kathryn L.; Terry, Mary Beth; Thomassen, Mads; Tibiletti, Maria Grazia; Tihomirova, Laima; Tognazzo, Silvia; Toland, Amanda Ewart; Tomlinson, Ian; Torres, Diana; Truong, Therese; Tseng, Chiu-chen; Tung, Nadine; Tworoger, Shelley S.; Vachon, Celine; Van den Ouweland, Ans M.W.; Van Doorn, Helena C.; Jansen van Rensburg, Elizabeth; Van’t Veer, Laura J.; Vanderstichele, Adriaan; Vergote, Ignace; Vijai, Joseph; Wang, Qin; Wang-Gohrke, Shan; Weitzel, Jeffrey N.; Wentzensen, Nicolas; Whittemore, Alice S.; Wildiers, Hans; Winqvist, Robert; Wu, Anna H.; Yannoukakos, Drakoulis; Yoon, Sook-Yee; Yu, Jyh-Cherng; Zheng, Wei; Zheng, Ying; Khanna, Kum Kum; Simard, Jacques; Monteiro, Alvaro N.; French, Juliet D.; Couch, Fergus J.; Freedman, Matthew L.; Easton, Douglas F.; Dunning, Alison M.; Pharoah, Paul D.; Edwards, Stacey L.; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Gayther, Simon A. (Nature Publishing Group, 2016-09-07)
    A locus at 19p13 is associated with breast cancer (BC) and ovarian cancer (OC) risk. Here we analyse 438 SNPs in this region in 46,451 BC and 15,438 OC cases, 15,252 BRCA1 mutation carriers and 73,444 controls and identify ...
  • Genome-wide association and transcriptome studies identify target genes and risk loci for breast cancer 
    Ferreira, Manuel A.; Jansen van Rensburg, Elizabeth (Nature Publishing Group, 2019)
    Genome-wide association studies (GWAS) have identified more than 170 breast cancer susceptibility loci. Here we hypothesize that some risk-associated variants might act in nonbreast tissues, specifically adipose tissue ...
  • Genome-wide association study in BRCA1 mutation carriers identifies Novel Loci associated with breast and ovarian cancer risk 
    Dorfling, Cecilia Maria; Jansen van Rensburg, Elizabeth; Couch, Fergus J.; Wang, Xianshu; McGuffog, Lesley; Lee, Andrew; Olswold, Curtis; Kuchenbaecker, Karoline B.; Soucy, Penny; Fredericksen, Zachary; Barrowdale, Daniel; Dennis, Joe; Gaudet, Mia M.; Dicks, Ed; Kosel, Matthew; Healey, Sue; Sinilnikova, Olga M.; Lee, Adam; Bacot, Francois; Vincent, Daniel; Hogervorst, Frans B.L.; Peock, Susan; Stoppa-Lyonnet, Dominique; Jakubowska, Anna; kConFab Investigators (Kathleen, Cuningham); Radice, Paolo; Schmutzler, Rita Katharina; Domchek, Susan M.; Piedmonte, Marion; Singer, Christian F.; Friedman, Eitan; Thomassen, Mads; Ontario Cancer Genetics Network; Hansen, Thomas V.O.; Neuhausen, Susan L.; Szabo, Csilla I.; Blanco, Ignacio; Greene, Mark H.; Karlan, Beth Y.; Garber, Judy; Phelan, Catherine M.; Weitzel, Jeffrey N.; Montagna, Marco; Olah, Edith; Andrulis, Irene L.; Godwin, Andrew K.; Yannoukakos, Drakoulis; Goldgar, David E.; Caldes, Trinidad; Nevanlinna, Heli; Osorio, Ana; Terry, Mary Beth; Daly, Mary B.; Hamann, Ute; Ramus, Susan J.; Toland, Amanda Ewart; Caligo, Maria A.; Olopade, Olufunmilayo I.; Tung, Nadine; Claes, Kathleen; Beattie, Mary S.; Southey, Melissa C.; Imyanitov, Evgeny N.; Tischkowitz, Marc; Janavicius, Ramunas; John, Esther M.; Kwong, Ava; Diez, Orland; Balmana, Judith; Barkardottir, Rosa B.; Arun, Banu K.; Rennert, Gad; Teo, Soo-Hwang; Ganz, Patricia A.; Campbell, Ian G.; Van der Hout, Annemarie H.; Van Deurzen, Carolien H.M.; Seynaeve, Caroline; Gomez Garcia, Encarna B.; Van Leeuwen, Flora E.; Meijers-Heijboer, Hanne E.J.; Gille, Johannes J.P.; Ausems, Margreet G.E.M.; Blok, Marinus J.; Ligtenberg, Marjolijn J.L.; Rookus, Matti A.; Devilee, Peter; Verhoef, Senno; Van Os, Theo A.M.; Wijnen, Juul T.; Frost, Debra; Ellis, Steve; Fineberg, Elena; Platte, Radka; Evans, D. Gareth; Izatt, Louise; Eeles, Rosalind A.; Adlard, Julian; Eccles, Diana M.; Cook, Jackie; Brewer, Carole; Douglas, Fiona; Hodgson, Shirley; Morrison, Patrick J.; Side, Lucy E.; Donaldson, Alan; Houghton, Catherine; Rogers, Mark T.; Dorkins, Huw; Eason, Jacqueline; Gregory, Helen; McCann, Emma; Calender, Alain; Hardouin, Agnes; Berthet, Pascaline; Delnatte, Capucine; Nogues, Catherine; Lasset, Christine; Houdayer, Claude; Leroux, Dominique; Rouleau, Etienne; Prieur, Fabienne; Damiola, Francesca; Sobol, Hagay; Coupier, Isabelle; Venat-Bouvet, Laurence; Castera, Laurent; Gauthier-Villars, Marion; Leone, Melanie; Pujol, Pascal; Mazoyer, Sylvie; Bignon, Yves-Jean; Złowocka-Perlowska, Elz bieta; Gronwald, Jacek; Lubinski, Jan; Durda, Katarzyna; Jaworska, Katarzyna; Huzarski, Tomasz; Spurdle, Amanda B.; Viel, Alessandra; Peissel, Bernard; Bonanni, Bernardo; Melloni, Giulia; Ottini, Laura; Papi, Laura; Varesco, Liliana; Tibiletti, Maria Grazia; Peterlongo, Paolo; Volorio, Sara; Manoukian, Siranoush; Pensotti, Valeria; Arnold, Norbert; Engel, Christoph; Deissler, Helmut; Gadzicki, Dorothea; Gehrig, Andrea; Kast, Karin; Rhiem, Kerstin; Meindl, Alfons; Niederacher, Dieter; Ditsch, Nina; Plendl, Hansjoerg; Preisler-Adams, Sabine; Engert, Stefanie; Sutter, Christian; Varon-Mateeva, Raymonda; Wappenschmidt, Barbara; Weber, Bernhard H.F; Arver, Brita; Stenmark-Askmalm, Marie; Loman, Niklas; Rosenquist, Richard; Einbeigi, Zakaria; Nathanson, Katherine L.; Rebbeck, Timothy R.; Blank, Stephanie V.; Cohn, David E.; Rodriguez, Gustavo C.; Small, Laurie; Friedlander, Michael; Bae-Jump, Victoria L.; Fink-Retter, Anneliese; Rappaport, Christine; Gschwantler-Kaulich, Daphne; Pfeiler, Georg; Tea, Muy-Kheng M.; Lindor, Noralane M.; Kaufman, Bella; Paluch, Shani Shimon; Laitman, Yael; Skytte, Anne-Bine; Gerdes, Anne-Marie; Pedersen, Inge Sokilde; Moeller, Sanne Traasdahl; Kruse, Torben A.; Jensen, Uffe Birk; Vijai, Joseph; Sarrel, Kara; Robson, Mark; Kauff, Noah; Mulligan, Anna Marie; Glendon, Gord; Ozcelik, Hilmi; Ejlertsen, Bent; Nielsen, Finn C.; Jonson, Lars; Andersen, Mette K.; Ding, Yuan Chun; Steele, Linda; Foretova, Lenka; Teule, Alex; Lazaro, Conxi; Brunet, Joan; Pujana, Miquel Angel; Mai, Phuong L.; Loud, Jennifer T.; Walsh, Christine; Lester, Jenny; Orsulic, Sandra; Narod, Steven A.; Herzog, Josef; Sand, Sharon R.; Tognazzo, Silvia; Agata, Simona; Vaszko, Tibor; Weaver, Joellen; Stavropoulou, Alexandra V.; Buys, Saundra S.; Romero, Atocha; De la Hoya, Miguel; Aittomaki, Kristiina; Muranen, Taru A.; Duran, Mercedes; Chung, Wendy K.; Lasa, Adriana; Miron, Alexander; Benitez, Javier; Senter, Leigha; Huo, Dezheng; Chan, Salina B.; Sokolenko, Anna P.; Chiquette, Jocelyne; Tihomirova, Laima; Friebel, Tara M.; Agnarsson, Bjarni A.; Lu, Karen H.; Lejbkowicz, Flavio; James, Paul A.; Hall, Per; Dunning, Alison M.; Tessier, Daniel C.; Cunningham, Julie M.; Slager, Susan L.; Wang, Chen; Hart, Steven; Stevens, Kristen; Simard, Jacques; Pastinen, Tomi; Pankratz, Vernon S.; Offit, Kenneth; Easton, Douglas F.; Georgia, Chenevix-Trench; Antoniou, Antonis C.; GEMO Study Collaborators; SWE-BRCA (Swedish Breast Cancer Study); Ontario Cancer Genetics Network; HEBON (Hereditary Breast and Ovarian Cancer Research Group Netherlands); EMBRACE (Epidemiological Study of Familial Breast Cancer); BCFR (Breast Cancer Family Registry); Murray, Alex; Hunter, Kent W. (Public Library of Science, 2013-03-27)
    BRCA1-associated breast and ovarian cancer risks can be modified by common genetic variants. To identify further cancer risk-modifying loci, we performed a multi-stage GWAS of 11,705 BRCA1 carriers (of whom 5,920 were ...
  • Identification of a BRCA2-specific modifier locus at 6p24 related to breast cancer risk 
    Gaudet, Mia M.; Kuchenbaecker, Karoline B.; Vijai, Joseph; Klein, Robert J.; Kirchhoff, Tomas; McGuffog, Lesley; Barrowdale, Daniel; Dunning, Alison M.; Lee, Andrew; Dennis, Joe; Healey, Sue; Dicks, Ed; Soucy, Penny; Sinilnikova, Olga M.; Pankratz, Vernon S.; Wang, Xianshu; Eldridge, Ronald C; Tessier, Daniel C.; Vincent, Daniel; Bacot, Francois; Hogervorst, Frans B.L.; Peock, Susan; Stoppa-Lyonnet, Dominique; Cuningham, Kathleen; Peterlongo, Paolo; Schmutzler, Rita K.; Nathanson, Katherine L.; Piedmonte, Marion; Singer, Christian F.; Thomassen, Mads; Lunenfeld, Samuel; Hansen, Thomas V.O.; Neuhausen, Susan L.; Blanco, Ignacio; Greene, Mark H.; Garber, Judy; Weitzel, Jeffrey N.; Andrulis, Irene L.; Goldgar, David E.; D’Andrea, Emma; Caldes, Trinidad; Nevanlinna, Heli; Osorio, Ana; Jansen van Rensburg, Elizabeth; Arason, Adalgeir; Rennert, Gad; Van den Ouweland, Ans M.W.; Van der Hout, Annemarie H.; Kets, Carolien M.; Aalfs, Cora M.; Wijnen, Juul T.; Ausems, Margreet G.E.M.; Frost, Debra; Ellis, Steve; Fineberg, Elena; Platte, Radka; Evans, D. Gareth; Jacobs, Chris; Adlard, Julian; Tischkowitz, Marc; Porteous, Mary E.; Damiola, Francesca; Golmard, Lisa; Barjhoux, Laure; Longy, Michel; Belotti, Muriel; Ferrer, Sandra Fert; Mazoyer, Sylvie; Spurdle, Amanda B.; Manoukian, Siranoush; Barile, Monica; Genuardi, Maurizio; Arnold, Norbert; Meindl, Alfons; Sutter, Christian; Wappenschmidt, Barbara; Domchek, Susan M.; Pfeiler, Georg; Friedman, Eitan; Jensen, Uffe Birk; Robson, Mark; Shah, Sohela; Lazaro, Conxi; Mai, Phuong L.; Benitez, Javier; Southey, Melissa C.; Schmidt, Marjanka K.; Fasching, Peter A.; Peto, Julian; Humphreys, Manjeet K.; Wang, Qin; Michailidou, Kyriaki; Sawyer, Elinor J.; Burwinkel, Barbara; Guenel, Pascal; Bojesen, Stig E.; Milne, Roger L.; Brenner, Hermann; Lochmann, Magdalena; Fischer-Bosch, Margarete; Aittomaki, Kristiina; Dork, Thilo; Margolin, Sara; Mannermaa, Arto; Lambrechts, Diether; Chang-Claude, Jenny; Radice, Paolo; Giles, Graham G.; Haiman, Christopher A.; Winqvist, Robert; Devilee, Peter; Garcıa-Closas, Montserrat; Schoof, Nils; Hooning, Maartje J.; Cox, Angela; Pharoah, Paul D.P.; Jakubowska, Anna; Orr, Nick; Gonzalez-Neira, Anna; Pita, Guillermo; Alonso, M. Rosario; Hall, Per; Couch, Fergus J.; Simard, Jacques; Altshuler, David; Easton, Douglas F.; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Offit, Kenneth; Hunter, Kent W. (Public Library of Science, 2013-03-27)
    Common genetic variants contribute to the observed variation in breast cancer risk for BRCA2 mutation carriers; those known to date have all been found through population-based genome-wide association studies (GWAS). ...
  • 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; Aittomaki, Kristiina; Ambrosone, Christine; Andrulis, Irene L.; Anton-Culver, Hoda; Arndt, Volker; Arun, Banu K.; Arver, Brita; Barile, Monica; Barkardottir, Rosa B.; 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.; Chunk, 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 Maria; 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; Forsti, 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.; 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; 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, Borge 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; Julian, Peto; Phelan, Catherine M.; Pilarski, Robert; Poppe, Bruce; Pylkas, Katri; Radice, Paolo; Rahman, Nazneen; Johanna, Rantala; 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-Askmalm, Doris; 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 Ewart; Tollenaar, Robert A.E.M.; Tomlinson, Ian; Truong, Therese; Tsimiklis, Helen; Teule, Alex; Tumino, Rosario; Tung, Nadine; Turnbull, Clare; Ursin, Giski; Van Deurzen, Carolien H.M.; Jansen van Rensburg, Elizabeth; 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.; Garcıa-Closas, Montserrat; Easton, Douglas F.; Antoniou, Antonis C. (Nature Publishing Group, 2016-04-27)
    Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (Po5 10 8) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast ...
  • Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus 
    Zeng, Chenjie; Guo, Xingyi; Long, Jirong; Kuchenbaecker, Karoline B.; Droit, Arnaud; Michailidou, Kyriaki; Ghoussaini, Maya; Kar, Siddhartha; Freeman, Adam; Hopper, John L.; Milne, Roger L.; Bolla, Manjeet K.; Wang, Qin; Dennis, Joe; Agata, Simona; Ahmed, Shahana; Aittomäki, Kristiina; Andrulis, Irene L.; Anton-Culver, Hoda; Antonenkova, Natalia N.; Arason, Adalgeir; Arndt, Volker; Arun, Banu K.; Arver, Brita; Bacot, Francois; Barrowdale, Daniel; Baynes, Caroline; Beeghly-Fadiel, Alicia; Benitez, Javier; Bermisheva, Marina; Blomqvist, Carl; Blot, William J.; Bogdanova, Natalia V.; Bojesen, Stig E.; Bonanni, Bernardo; Borresen-Dale, Anne-Lise; Brand, Judith S.; Brauch, Hiltrud; Brennan, Paul; Brenner, Hermann; Broeks, Annegien; Bruning, Thomas; Burwinkel, Barbara; Buys, Saundra S.; Cai, Qiuyin; Caldes, Trinidad; Campbell, Ian; Carpenter, Jane; Chang-Claude, Jenny; Choi, Ji-Yeob; Claes, Kathleen B.M.; Clarke, Christine; Cox, Angela; Cross, Simon S.; Czene, Kamila; Daly, Mary B.; De la Hoya, Miguel; De Leeneer, Kim; Devilee, Peter; Diez, Orland; Domchek, Susan M.; Doody, Michele; Dorfling, Cecilia Maria; Dork, Thilo; Dos-Santos-Silva, Isabel; Dumont, Martine; Dwek, Miriam; Dworniczak, Bernd; Egan, Kathleen; Einbeigi, Zakaria; Ejlertsen, Bent; Ellis, Steve; Frost, Debra; Lalloo, Fiona; Fasching, Peter A.; Figueroa, Jonine; Flyger, Henrik; Friedlander, Michael; Friedman, Eitan; Gambino, Gaetana; Gao, Yu-Tang; Garber, Judy; García-Closas, Montserrat; Gehrig, Andrea; Damiola, Francesca; Lesueur, Fabienne; Mazoyer, Sylvie; GEMO Study Collaborators; Giles, Graham G.; Godwin, Andrew K.; Goldgar, David E.; Gonzalez-Neira, Anna; Greene, Mark H.; Guenel, Pascal; Haiman, Christopher A.; Hallberg, Emily; Hamann, Ute; Hansen, Thomas V. O.; Hart, Steven; Hartikainen, Jaana M.; Hartman, Mikael; Hassan, Norhashimah; Healey, Sue; Hogervorst, Frans B.L.; Verhoef, Senno; HEBON; Hendricks, Carolyn B.; Hillemanns, Peter; Hollestelle, Antoinette; Hulick, Peter J.; Hunter, David J.; Imyanitov, Evgeny N.; Isaacs, Claudine; Ito, Hidemi; Jakubowska, Anna; Janavicius, Ramunas; Jaworska-Bieniek, Katarzyna; Jensen, Uffe Birk; John, Esther M.; Beauparlant, Charles Joly; Jones, Michael; Kabisch, Maria; Kang, Daehee; Karlan, Beth Y.; Kauppila, Saila; Kerin, Michael J.; Khan, Sofia; Knight, Julia A.; Konstantopoulou, Irene; Kraft, Peter; Kwong, Ava; Laitman, Yael; Lambrechts, Diether; Lazaro, Conxi; Le Marchand, Loic; Lee, Chuen Neng; Lee, Min Hyuk; Lester, Jenny; Li, Jingmei; Liljegren, Annelie; Lindblom, Annika; Lophatananon, Artitaya; Lubinski, Jan; Mai, Phuong L.; Mannermaa, Arto; Manoukian, Siranoush; Margolin, Sara; Marme, Frederik; Matsuo, Keitaro; McGuffog, Lesley; Meindl, Alfons; Menegaux, Florence; Montagna, Marco; Muir, Kenneth; Mulligan, Anna Marie; Nathanson, Katherine L.; Nevanlinna, Heli; Newcomb, Polly A.; Nord, Silje; Nussbaum, Robert L.; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I.; Olswold, Curtis; Osorio, Ana; Park-Simon, Tjoung-Won; Paulsson-Karlsson, Ylva; Peeters, Stephanie; Peterlongo, Paolo; Peto, Julian; Pfeiler, Georg; Phelan, Catherine M.; Presneau, Nadege; Radice, Paolo; Rahman, Nazneen; Ramus, Susan J.; Rashid, Muhammad Usman; Rennert, Gad; Rhiem, Kerstin; Rudolph, Anja; Salani, Ritu; Sangrajrang, Suleeporn; Sawyer, Elinor J.; Schmidt, Marjanka K.; Schmutzler, Rita K.; Schoemaker, Minouk J.; Schurmann, Peter; Seynaeve, Caroline; Shen, Chen-Yang; Shrubsole, Martha J.; Steinemann, Doris; Swerdlow, Anthony; Szabo, Csilla I.; Tchatchou, Sandrine; Teixeira, Manuel R.; Teo, Soo H.; Terry, Mary Beth; Tessier, Daniel C.; Teule, Alex; Thomassen, Mads; Tihomirova, Laima; Toland, Amanda Ewart; Tung, Nadine; Turnbull, Clare; Van den Ouweland, Ans M.W.; Jansen van Rensburg, Elizabeth; Ven den Berg, David; Vijai, Joseph; Wang-Gohrke, Shan; Weitze, Jeffrey N.; Whittemore, Alice S.; Winqvist, Robert; Wu, Anna H.; Yannoukakos, Drakoulis; Yu, Jyh-Cherng; Pharoah, Paul D.P.; Hall, Per; Chenevix-Trench, Georgia; KConFab; AOCS Investigators; Dunning, Alison M.; Simard, Jacques; Couch, Fergus J.; Antoniou, Antonis C.; Easton, Douglas F.; Zheng, Wei (BioMed Central, 2016-06-21)
    BACKGROUND : Multiple recent genome-wide association studies (GWAS) have identified a single nucleotide polymorphism (SNP), rs10771399, at 12p11 that is associated with breast cancer risk. METHOD : We performed a fine-scale ...
  • Identification of six new susceptibility loci for invasive epithelial ovarian cancer 
    Kuchenbaecker, Karoline B.; Ramus, Susan J.; Tyrer, Jonathan; Lee, Andrew; Shen, Howard C.; Beesley, Jonathan; Lawrenson, Kate; McGuffog, Lesley; Healey, Sue; Lee, Janet M.; Spindler, Tassja J.; Lin, Yvonne G.; Pejovic, Tanja; Bean, Yukie; Li, Qiyuan; Coetzee, Simon; Hazelett, Dennis; Miron, Alexander; Southey, Melissa; Terry, Mary Beth; Goldgar, David E.; Buys, Saundra S.; Janavicius, Ramunas; Dorfling, Cecilia Maria; Jansen van Rensburg, Elizabeth; Neuhausen, Susan L.; Ding, Yuan Chun; Hansen, Thomas V.O.; Jønson, Lars; Gerdes, Anne-Marie; Ejlertsen, Bent; Barrowdale, Daniel; Dennis, Joe; Benitez, Javier; Osorio, Ana; Garcia, Maria Jose; Komenaka, Ian; Weitzel, Jeffrey N.; Ganschow, Pamela; Peterlongo, Paolo; Bernard, Loris; Viel, Alessandra; Bonanni, Bernardo; Peissel, Bernard; Manoukian, Siranoush; Radice, Paolo; Papi, Laura; Ottini, Laura; Fostira, Florentia; Konstantopoulou, Irene; Garber, Judy; Frost, Debra; Perkins, Jo; Platte, Radka; Ellis, Steve; EMBRACE; Godwin, Andrew K.; Schmutzler, Rita Katharina; Meindl, Alfons; Engel, Christoph; Sutter, Christian; Sinilnikova, Olga M.; GEMO Study Collaborators; Damiola, Francesca; Mazoyer, Sylvie; Stoppa-Lyonnet, Dominique; Claes, Kathleen; De Leeneer, Kim; Kirk, Judy; Rodriguez, Gustavo C.; Piedmonte, Marion; O’Malley, David M.; De la Hoya, Miguel; Caldes, Trinidad; Aittomäki, Kristiina; Nevanlinna, Heli; Collée, J. Margriet; Rookus, Matti A.; Oosterwijk, Jan C.; Breast Cancer Family Registry; Tihomirova, Laima; Tung, Nadine; Hamann, Ute; Isaccs, Claudine; Tischkowitz, Marc; Imyanitov, Evgeny N.; Caligo, Maria A.; Campbell, Ian G.; Hogervorst, Frans B. L.; HEBON; Olah, Edith; Diez, Orland; Blanco, Ignacio; Brunet, Joan; Lazaro, Conxi; Pujana, Miquel Angel; Jakubowska, Anna; Gronwald, Jacek; Lubinski, Jan; Sukiennicki, Grzegorz; Barkardottir, Rosa B.; Plante, Marie; Simard, Jacques; Soucy, Penny; Montagna, Marco; Tognazzo, Silvia; Teixeira, Manuel R.; KConFab Investigators; Pankratz, Vernon S.; Wang, Xianshu; Lindor, Noralane; Szabo, Csilla I.; Kauff, Noah; Vijai, Joseph; Aghajanian, Carol A.; Pfeiler, Georg; Berger, Andreas; Singer, Christian F.; Tea, Muy-Kheng; Phelan, Catherine M.; Greene, Mark H.; Mai, Phuong L.; Rennert, Gad; Mulligan, Anna Marie; Tchatchou, Sandrine; Andrulis, Irene L.; Glendon, Gord; Toland, Amanda Ewart; Jensen, Uffe Birk; Kruse, Torben A.; Thomassen, Mads; Bojesen, Anders; Zidan, Jamal; Friedman, Eitan; Laitman, Yael; Soller, Maria; Liljegren, Annelie; Arver, Brita; Einbeigi, Zakaria; Stenmark-Askmalm, Marie; Olopade, Olufunmilayo I.; Nussbaum, Robert L.; Rebbeck, Timothy R.; Nathanson, Katherine L.; Domchek, Susan M.; Lu, Karen H.; Karlan, Beth Y.; Walsh, Christine; Lester, Jenny; Australian Cancer Study (Ovarian Cancer Investigators); Australian Ovarian Cancer Study Group; Hein, Alexander; Ekici, Arif B.; Beckmann, Matthias W.; Fasching, Peter A.; Lambrechts, Diether; Van Nieuwenhuysen, Els; Vergote, Ignace; Lambrechts, Sandrina; Dicks, Ed; Doherty, Jennifer A.; Wicklund, Kristine G.; Rossing, Mary Anne; Rudolph, Anja; Chang-Claude, Jenny; Wang-Gohrke, Shan; Eilber, Ursula; Moysich, Kirsten B.; Odunsi, Kunle; Sucheston, Lara; Lele, Shashi; Wilkens, Lynne R.; Goodman, Marc T.; Thompson, Pamela J.; Shvetsov, Yurii B.; Runnebaum, Ingo B.; Dürst, Matthias; Hillemanns, Peter; Dörk, Thilo; Antonenkova, Natalia; Bogdanova, Natalia; Leminen, Arto; Pelttari, Liisa M.; Butzow, Ralf; Modugno, Francesmary; Kelley, Joseph L.; Edwards, Robert P.; Ness, Roberta B.; Du Bois, Andreas; Heitz, Florian; Schwaab, Ira; Harter, Philipp; Matsuo, Keitaro; Hosono, Satoyo; Orsulic, Sandra; Jensen, Allan; Kjaer, Susanne Kruger; Hogdall, Estrid; Hasmad, Hanis Nazihah; Azmi, Mat Adenan Noor; Teo, Soo-Hwang; Woo, Yin-Ling; Fridley, Brooke L.; Goode, Ellen L.; Cunningham, Julie M.; Vierkant, Robert A.; Bruinsma, Fiona; Giles, Graham G.; Liang, Dong; Hildebrandt, Michelle A.T.; Wu, Xifeng; Levine, Douglas A.; Bisogna, Maria; Berchuck, Andrew; Iversen, Edwin S.; Schildkraut, Joellen M.; Concannon, Patrick; Weber, Rachel Palmieri; Cramer, Daniel W.; Terry, Kathryn L.; Poole, Elizabeth M.; Tworoger, Shelley S.; Bandera, Elisa V.; Orlow, Irene; Olson, Sara H.; Krakstad, Camilla; Salvesen, Helga B.; Tangen, Ingvild L.; Bjorge, Line; Van Altena, Anne M.; Aben, Katja K.H.; Kiemeney, Lambertus A.; Massuger, Leon F.A.G.; Kellar, Melissa; Brooks-Wilson, Angela; Kelemen, Linda E.; Cook, Linda S.; Le, Nhu D.; Cybulski, Cezary; Yang, Hannah; Lissowska, Jolanta; Brinton, Louise A.; Wentzensen, Nicolas; Hogdall, Claus; Lundvall, Lene; Nedergaard, Lotte; Baker, Helen; Song, Honglin; Eccles, Diana M.; McNeish, Ian; Paul, James; Carty, Karen; Siddiqui, Nadeem; Glasspool, Rosalind; Whittemore, Alice S.; Rothstein, Joseph H.; McGuire, Valerie; Sieh, Weiva; Ji, Bu-Tian; Zheng, Wei; Shu, Xiao-Ou; Gao, Yu-Tang; Rosen, Barry; Risch, Harvey A.; McLaughlin, John R.; Narod, Steven A.; Monteiro, Alvaro N.; Chen, Ann; Lin, Hui-Yi; Permuth-Wey, Jenny; Sellers, Thomas A.; Tsai, Ya-Yu; Chen, Zhihua; Ziogas, Argyrios; Anton-Culver, Hoda; Gentry-Maharaj, Aleksandra; Menon, Usha; Harrington, Patricia; Lee, Alice W.; Wu, Anna H.; Pearce, Celeste L.; Coetzee, Gerry; Pike, Malcolm C.; Dansonka-Mieszkowska, Agnieszka; Timorek, Agnieszka; Rzepecka, Iwona K.; Kupryjanczyk, Jolanta; Freedman, Matt; Noushmehr, Houtan; Easton, Douglas F.; Offit, Kenneth; Couch, Fergus J.; Gayther, Simon; Pharoah, Paul P.; Antoniou, Antonis C.; Chenevix-Trench, Georgia; Consortium of Investigators of Modifiers of BRCA1; Consortium of Investigators of Modifiers of BRCA2 (Nature Publishing Group, 2015-02)
    Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent in BRCA1 and BRCA2 mutation carriers who are at high ...
  • Inheritance of deleterious mutations at both BRCA1 and BRCA2 in an international sample of 32,295 women 
    Rebbeck, Timothy R.; Friebel, Tara M.; Mitra, Nandita; Wan, Fei; Chen, Stephanie; Andrulis, Irene L.; Apostolou, Paraskevi; Arnold, Norbert; Arun, Banu K.; Barrowdale, Daniel; Benitez, Javier; Berger, Raanan; Berthet, Pascaline; Borg, Ake; Buys, Saundra S.; Carter, Jonathan; Chiquette, Jocelyne; Claes, Kathleen B.M.; Couch, Fergus J.; Cybulski, Cezary; Daly, Mary B.; De la Hoya, Miguel; Diez, Orland; Domchek, Susan M.; Nathanson, Katherine L.; Durda, Katarzyna; Ellis, Steve; EMBRACE; Evans, D. Gareth; Foretova, Lenka; Friedman, Eitan; Frost, Debra; Ganz, Patricia A.; Garber, Judy; Glendon, Gord; Godwin, Andrew K.; Greene, Mark H.; Gronwald, Jacek; Hahnen, Eric; Hallberg, Emily; Hamann, Ute; Hansen, Thomas V.O.; HEBON; Imyanitov, Evgeny N.; Isaacs, Claudine; Jakubowska, Anna; Janavicius, Ramunas; Jaworska-Bieniek, Katarzyna; John, Esther M.; Karlan, Beth Y.; Kaufman, Bella; KConFab investigators; Kwong, Ava; Laitman, Yael; Lasset, Christine; Lazaro, Conxi; Lester, Jenny; Loman, Niklas; Lubinski, Jan; Manoukian, Siranoush; Mitchell, Gillian; Montagna, Marco; Neuhausen, Susan L.; Nevanlinna, Heli; Niederacher, Dieter; Nussbaum, Robert L.; Offit, Kenneth; Olah, Edith; Olopade, Olufunmilayo I.; Park, Sue Kyung; Piedmonte, Marion; Radice, Paolo; Rappaport-Fuerhauser, Christine; Rookus, Matti A.; Seynaeve, Caroline; Simard, Jacques; Singer, Christian F.; Soucy, Penny; Southey, Melissa; Stoppa-Lyonnet, Dominique; Sukiennicki, Grzegorz; Szabo, Csilla I.; Tancredi, Mariella; Teixeira, Manuel R.; Teo, Soo-Hwang; Terry, Mary Beth; Thomassen, Mads; Tihomirova, Laima; Tischkowitz, Marc; Toland, Amanda Ewart; Toloczko-Grabarek, Aleksandra; Tung, Nadine; Jansen van Rensburg, Elizabeth; Villano, Danylo; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weitzel, Jeffrey N.; Zidan, Jamal; Zorn, Kristin K.; McGuffog, Lesley; Easton, Douglas; Chenevix-Trench, Georgia; Antoniou, Antonis C.; Ramus, Susan J. (BioMed Central, 2016-11-11)
    BACKGROUND : Most BRCA1 or BRCA2 mutation carriers have inherited a single (heterozygous) mutation. Transheterozygotes (TH) who have inherited deleterious mutations in both BRCA1 and BRCA2 are rare, and the consequences ...
  • Mendelian randomisation study of height and body mass index as modifiers of ovarian cancer risk in 22,588 BRCA1 and BRCA2 mutation carriers 
    Qian, Frank; Rookus, Matti A.; Leslie, Goska; Risch, Harvey A.; Greene, Mark H.; Aalfs, Cora M.; Adank, Muriel A.; Adlard, Julian; Agnarsson, Bjarni A.; Ahmed, Munaza; Aittomäki, Kristiina; Andrulis, Irene L.; Arnold, Norbert; Arun, Banu K.; Ausems, Margreet G.E.M.; Azzollini, Jacopo; Barrowdale, Daniel; Barwell, Julian; Benitez, Javier; Białkowska, Katarzyna; Bonadona, Valérie; Borde, Julika; Borg, Ake; Bradbury, Angela R.; Brunet, Joan; Buys, Saundra S.; Caldes, Trinidad; Caligo, Maria A.; Campbell, Ian; Carter, Jonathan; Chiquette, Jocelyne; Chung, Wendy K.; Claes, Kathleen B.M.; Collee, J. Margriet; Collonge-Rame, Marie-Agnes; Couch, Fergus J.; Daly, Mary B.; Delnatte, Capucine; Diez, Orland; Domchek, Susan M.; Dorfling, Cecilia Maria; Eason, Jacqueline; Easton, Douglas F.; Eeles, Ros; Engel, Christoph; Evans, D. Gareth; Faivre, Laurence; Feliubadalo, Lidia; Foretova, Lenka; Friedman, Eitan; Frost, Debra; Ganz, Patricia A.; Garber, Judy; Garcia-Barberan, Vanesa; Gehrig, Andrea; Glendon, Gord; Godwin, Andrew K.; Gomez Garcia, Encarna B.; Hamann, Ute; Hauke, Jan; Hopper, John L.; Hulick, Peter J.; Imyanitov, Evgeny N.; Isaacs, Claudine; Izatt, Louise; Jakubowska, Anna; Janavicius, Ramunas; John, Esther M.; Karlan, Beth Y.; Kets, Carolien M.; Laitman, Yael; Lazaro, Conxi; Leroux, Dominique; Lester, Jenny; Lesueur, Fabienne; Loud, Jennifer T.; Lubinski, Jan; Lukomska, Alicja; McGuffog, Lesley; Mebirouk, Noura; Meijers-Heijboer, Hanne E.J.; Meindl, Alfons; Miller, Austin; Montagna, Marco; Mooij, Thea M.; Mouret-Fourme, Emmanuelle; Nathanson, Katherine L.; Nehoray, Bita; Neuhausen, Susan L.; Nevanlinna, Heli; Nielsen, Finn C.; Offit, Kenneth; Olah, Edith; Ong, Kai-ren; Oosterwijk, Jan C.; Ottini, Laura; Parsons, Michael T.; Peterlongo, Paolo; Pfeiler, Georg; Pradhan, Nisha; Radice, Paolo; Ramus, Susan J.; Rantala, Johanna; Rennert, Gad; Robson, Mark; Rodriguez, Gustavo C.; Salani, Ritu; Scheuner, Maren T.; Schmutzler, Rita K.; Shah, Payal D.; Side, Lucy E.; Simard, Jacques; Singer, Christian F.; Steinemann, Doris; Stoppa-Lyonnet, Dominique; Tan, Yen Yen; Teixeira, Manuel R.; Terry, Mary Beth; Thomassen, Mads; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda Ewart; Tung, Nadine; Van Asperen, Christi J.; Van Engelen, Klaartje; Jansen van Rensburg, Elizabeth; Venat-Bouvet, Laurence; Vierstraete, Jeroen; Wagner, Gabriel; Walker, Lisa; Weitzel, Jeffrey N.; Yannoukakos, Drakoulis; KConFab Investigators; HEBON Investigators; GEMO Study Collaborators; EMBRACE Collaborators; Antoniou, Antonis C.; Goldgar, David E.; Olopade, Olufunmilayo I.; Chenevix-Trench, Georgia; Rebbeck, Timothy R.; Huo, Dezheng (Springer Nature, 2019-07)
    BACKGROUND : Height and body mass index (BMI) are associated with higher ovarian cancer risk in the general population, but whether such associations exist among BRCA1/2 mutation carriers is unknown. METHODS : We applied ...
  • Mutational spectrum in a worldwide study of 29,700 families with BRCA1 or BRCA2 mutations 
    Rebbeck, Timothy R.; Friebel, Tara M.; Friedman, Eitan; Hamann, Ute; Huo, Dezheng; Kwong, Ava; Olah, Edith; Olopade, Olufunmilayo I.; Solano, Angela R.; Teo, Soo-Hwang; Thomassen, Mads; Weitzel, Jeffrey N.; Chan, T.L.; Couch, Fergus J.; Goldgar, David E.; Kruse, Torben A.; Palmero, Edenir Inêz; Park, Sue Kyung; Torres, Diana; Jansen van Rensburg, Elizabeth; McGuffog, Lesley; Parsons, Michael T.; Leslie, Goska; Aalfs, Cora M.; Abugattas, Julio; Adlard, Julian; Agata, Simona; Aittomäki, Kristiina; Andrews, Lesley; Andrulis, Irene L.; Arason, Adalgeir; Arnold, Norbert; Arun, Banu K.; Asseryanis, Ella; Auerbach, Leo; Azzollini, Jacopo; Balmaña, Judith; Barile, Monica; Barkardottir, Rosa B.; Barrowdale, Daniel; Benitez, Javier; Berger, Andreas; Berger, Raanan; Blanco, Amie M.; Blazer, Kathleen R.; Blok, Marinus J.; Bonadona, Valérie; Bonanni, Bernardo; Bradbury, Angela R.; Brewer, Carole; Buecher, Bruno; Buys, Saundra S.; Caldes, Trinidad; Caliebe, Almuth; Caligo, Maria A.; Campbell, Ian; Caputo, Sandrine M.; Chiquette, Jocelyne; Chung, Wendy K.; Claes, Kathleen B.; Collée, J. Margriet; Cook, Jackie; Davidson, Rosemarie; De la Hoya, Miguel; De Leeneer, Kim; De Pauw, Antoine; Delnatte, Capucine; Diez, Orland; Ding, Yuan Chun; Ditsch, Nina; Domchek, Susan M.; Dorfling, Cecilia Maria; Velazquez, Carolina; Dworniczak, Bernd; Eason, Jacqueline; Easton, Douglas F.; Eeles, Ros; Ehrencrona, Hans; Ejlertsen, Bent; EMBRACE; Engel, Christoph; Engert, Stefanie; Evans, D. Gareth; Faivre, Laurence; Feliubadaló, Lidia; Ferrer, Sandra Fert; Foretova, Lenka; Fowler, Jeffrey; Frost, Debra; Galvão, Henrique C.R.; Ganz, Patricia A.; Garber, Judy; Gauthier-Villars, Marion; Gehrig, Andrea; GEMO Study Collaborators; Gerdes, Anne-Marie; Gesta, Paul; Giannini, Giuseppe; Giraud, Sophie; Glendon, Gord; Godwin, Andrew K.; Greene, Mark H.; Gronwald, Jacek; Gutierrez-Barrera, Angelica; Hahnen, Eric; Hauke, Jan; HEBON; Henderson, Alex; Hentschel, Julia; Hogervorst, Frans B.L.; Honisch, Ellen; Imyanitov, Evgeny N.; Isaacs, Claudine; Izatt, Louise; Izquierdo, Angel; Jakubowska, Anna; James, Paul; Janavicius, Ramunas; Jensen, Uffe Birk; John, Esther M.; Vijai, Joseph; Kaczmarek, Katarzyna; Karlan, Beth Y.; Kast, Karin; KConFab Investigators; Kim, Sung-Won; Konstantopoulou, Irene; Korach, Jacob; Laitman, Yael; Lasa, Adriana; Lasset, Christine; Lazaro, Conxi; Lee, Annette; Lee, Min Hyuk; Lester, Jenny; Lesueur, Fabienne; Liljegren, Annelie; Lindor, Noralane M.; Longy, Michel; Loud, Jennifer T.; Lu, Karen H.; Lubinski, Jan; Machackova, Eva; Manoukian, Siranoush; Mari, Véronique; Martinez-Bouzas, Cristina; Matrai, Zoltan; Mebirouk, Noura; Meijers-Heijboer, Hanne E.J.; Meindl, Alfons; Mensenkamp, Arjen R.; Mickys, Ugnius; Miller, Austin; Montagna, Marco; Moysich, Kirsten B.; Mulligan, Anna Marie; Musinsky, Jacob; Neuhausen, Susan L.; Nevanlinna, Heli; Ngeow, Joanne; Nguyen, Huu Phuc; Niederacher, Dieter; Nielsen, Henriette Roed; Nielsen, Finn Cilius; Nussbaum, Robert L.; Offit, Kenneth; Ofverholm, Anna; Ong, Kai-ren; Osorio, Ana; Papi, Laura; Papp, Janos; Pasini, Barbara; Pedersen, Inge Sokilde; Peixoto, Ana; Peruga, Nina; Peterlongo, Paolo; Pohl, Esther; Pradhan, Nisha; Prajzendanc, Karolina; Prieur, Fabienne; Pujol, Pascal; Radice, Paolo; Ramus, Susan J.; Rantala, Johanna; Rashid, Muhammad Usman; Rhiem, Kerstin; Robson, Mark; Rodriguez, Gustavo C.; Rogers, Mark T.; Rudaitis, Vilius; Schmidt, Ane Y.; Schmutzler, Rita Katharina; Senter, Leigha; Shah, Payal D.; Sharma, Priyanka; Side, Lucy E.; Simard, Jacques; Singer, Christian F.; Skytte, Anne-Bine; Slavin, Thomas P.; Snape, Katie; Sobol, Hagay; Southey, Melissa; Steele, Linda; Steinemann, Doris; Sukiennicki, Grzegorz; Sutter, Christian; Szabo, Csilla I.; Tan, Yen Y.; Teixeira, Manuel R.; Terry, Mary Beth; Teule, Alex; Thomas, Abigail; Thull, Darcy L.; Tischkowitz, Marc; Tognazzo, Silvia; Toland, Amanda Ewart; Topka, Sabine; Trainer, Alison H.; Tung, Nadine; Van Asperen, Christi J.; Van der Hout, Annemieke H.; Van der Kolk, Lizet E.; Van der Luijt, Rob B.; Van Heetvelde, Mattias; Varesco, Liliana; Varon-Mateeva, Raymonda; Vega, Ana; Villarreal-Garza, Cynthia; Von Wachenfeldt, Anna; Walker, Lisa; Wang-Gohrke, Shan; Wappenschmidt, Barbara; Weber, Bernhard H.F.; Yannoukakos, Drakoulis; Yoon, Sook-Yee; Zanzottera, Cristina; Zidan, Jamal; Zorn, Kristin K.; Hutten Selkirk, Christina G.; Hulick, Peter J.; Chenevix-Trench, Georgia; Spurdle, Amanda B.; Antoniou, Antonis C.; Nathanson, Katherine L. (Wiley, 2018-05)
    The prevalence and spectrum of germline mutations in BRCA1 and BRCA2 have been reported in single populations, with the majority of reports focused on White in Europe and North America. The Consortium of Investigators of ...