Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

Van Rensburg, E. J.; Yg, Lin; Tyrer, Jonathan; Spindler, Tassja J.; Ramus, Susan J.; Terry, Mb; Terry, Mary Beth; Shen, Howard C.; Southey, Melissa; van Rensburg, Elizabeth J.; Sj, Ramus; Registry, Breast Cancer Family; Sunde, Lone; Skytte, Anne-Bine; Weitzel, Jeffrey N.; Viel, Alessandra; Tj, Spindler; de la Hoya, Miguel; Schmutzler, Rita Katharina; Sutter, Christian; Sinilnikova, Olga M.; Stoppa-Lyonnet, Dominique; Rodriguez, Gustavo C.; Radice, Paolo; Rookus, Matti A.; Tihomirova, Laima; Tung, Nadine; Tischkowitz, Marc; Wang, Xianshu; Vijai, Joseph; Simard, Jacques; Soucy, Penny; Sukiennicki, Grzegorz; Tognazzo, Silvia; Teixeira, Manuel R.; Szabo, Csilla I.; Zidan, Jamal; Tea, Muy-Kheng; Singer, Christian F.; du Bois, Andreas; Tchatchou, Sandrine; Rennert, Gad; Toland, Amanda Ewart; Walsh, Christine; Thomassen, Mads; Soller, Maria; Van Nieuwenhuysen, Els; Vergote, Ignace; van Altena, Anne M.; Stenmark-Askmalm, Marie; Wicklund, Kristine G.; Rebbeck, Timothy R.; Wang-Gohrke, Shan; Wilkens, Lynne R.; Van Altena, A. M.; Rossing, Mary Anne; Rudolph, Anja; Sucheston, Lara; Thompson, Pamela J.; Shvetsov, Yurii B.; Runnebaum, Ingo B.; Woo, Yin-Ling; Vierkant, Robert A.; Schwaab, Ira; Wu, Xifeng; Teo, Soo-Hwang; Weber, Rachel Palmieri; Schildkraut, Joellen M.; Terry, Kathryn L.; Tworoger, Shelley Ss; Salvesen, Helga B.; Yang, Hannah; Tangen, Ingvild L.; Wentzensen, Nicolas; Zheng, Wei; Whittemore, Alice S.; Song, Honglin; Siddiqui, Nadeem; Ziogas, Argyrios; Rothstein, Joseph H.; Sieh, Weiva; Shu, Xiao-Ou; Wu, Anna H.; Rosen, Barry; Risch, Harvey A.; Sellers, Thomas A.; Tsai, Ya-Yu; Timorek, Agnieszka; Rzepecka, Iwona K.; Kuchenbaecker, Karoline B.; Lee, Janet M.; Lin, Yvonne G.; Coetzee, Simon; Li, Qiyuan; Goldgar, David E.; Miron, Alexander; Buys, Saundra Ss; Hazelett, Dennis; Janavicius, Ramunas; Dorfling, Cecilia M.; Neuhausen, Susan L.; Ding, Yuan Chun; Hansen, Thomas V. O.; Beesley, Jonathan; Jonson, Lars; Gerdes, Anne-Marie; Ejlertsen, Bent; Barrowdale, Daniel; Osorio, Ana; Dennis, Joe; Lawrenson, Kate; Benitez, Javier; Peterlongo, Paolo; Garcia, Maria Jose; Pejovic, Tanja; Komenaka, Ian; Peissel, Bernard; Ganschow, Pamela; McGuffog, Lesley; Manoukian, Siranoush; Bean, Yukie; Bernard, Loris; Bonanni, Bernardo; Papi, Laura; Healey, Sue; Ottini, Laura; Fostira, Florentia; Perkins, Jo; Konstantopoulou, Irene; Platte, Radka; Garber, Judy; Frost, Debra; Meindl, Alfons; Ellis, Steve; Godwin, Andrew K.; Engel, Christoph; Mazoyer, Sylvie; Claes, Kathleen; Damiola, Francesca; De Leeneer, Kim; Piedmonte, Marion; O'Malley, David M.; Kirk, Judy; Caldes, Trinidad; Nevanlinna, Heli; Oosterwijk, Jan C.; Hamann, Ute; Isaccs, Claudine; Imyanitov, Evgeny N.; De La Hoya, M.; Olah, Edith; Caligo, Maria A.; Plante, Marie; Aittomäki, Kristiina; Campbell, Ian G.; Barkardottir, Rosa B.; Hogervorst, Frans B. L.; Montagna, Marco; Margriet Collée, J.; Diez, Orland; Blanco, Ignacio; Brunet, Joan; Pankratz, Vernon S.; Jakubowska, Anna; Gronwald, Jacek; Kb, Kuchenbaecker; Lubinski, Jan; Lindor, Noralane; Pujana, Miquel Angel; Pfeiler, Georg; Kauff, Noah; Phelan, Catherine M.; Aghajanian, Carol A.; Mai, Phuong L.; Lazaro, Conxi; Berger, Andreas; Mulligan, Anna Marie; Greene, Mark H.; Lee, Andrew W.; Andrulis, Irene L.; Glendon, Gord; Jensen, Uffe Birk; Kruse, Torben A.; Bojesen, Anders; Friedman, Eitan; Olopade, Olufunmilayo I.; Laitman, Yael; Nussbaum, Robert L.; Liljegren, Annelie; Nathanson, Katherine L.; Lee, Alice W.; Aittomaeki, Kristiina; Arver, Brita; Jønson, Lars; Einbeigi, Zakaria; Domchek, Susan M.; Lu, Karen H.; Karlan, Beth Y.; Jose Garcia, Maria; Lester, Jenny; Ekici, Arif B.; Hein, Alexander; Collée, Jm Margriet; Lee, Jm; Beckmann, Matthias W.; Fasching, Peter A.; Pelttari, Liisa M.; Lambrechts, Diether; Modugno, Francesmary; Lambrechts, Sandrina; Angel Pujana, Miguel; Leminen, Arto; Dicks, Ed; Moysich, Kirsten B.; Ness, Roberta B.; Doherty, Jennifer A.; Lazaroso, Conxi; Butzow, Ralf; Odunsi, Kunle; ,; Chang-Claude, Jenny; Kelley, Joseph L.; Edwards, Robert P.; Eilber, Ursula; Matsuo, Keitaro; Heitz, Florian; Orsulic, Sandra; Lele, Shashi; Goodman, Marc T.; Harter, Philipp; Embrace, Godwin Ak; Hosono, Satoyo; Hillemanns, Peter; Jensen, Allan; Antonenkova, Natalia; Kjaer, Susanne Krüger; Hogdall, Estrid; Bogdanova, Natalia; Hasmad, Hanis Nazihah; Hc, Shen; Azmi, Mat Adenan Noor; Fridley, Brooke L.; Goode, Ellen L.; Cunningham, Julie M.; Bruinsma, Fiona; Giles, Graham Gg; Poole, Elizabeth M.; Liang, Dong; Dürst, Matthias; Hildebrandt, Michelle A. T.; Dörk, Thilo; Orlow, Irene; Levine, Douglas A.; Bisogna, Maria; Olson, Sara H.; Investigators, KConFab; Berchuck, Andrew; Iversen, Edwin S.; Concannon, Patrick; Collaborators, Gemo Study; Cramer, Daniel W.; Du Bois, A.; Bandera, Elisa V.; Massuger, Leon F. A. G.; Duerst, Matthias; Krakstad, Camilla; Bjorge, Line; Doerk, Thilo; Hebon, Olah E.; Aben, Katja K. H.; Kiemeney, Lambertus A.; Kellar, Melissa; Brooks-Wilson, Angela; Kelemen, Linda E.; Nedergaard, Lotte; Cook, Linda S.; Le, Nhu D.; McNeish, Ian; Cybulski, Cezary; Pasini, Barbara; Lissowska, Jolanta; Paul, James; Brinton, Louise A.; Hogdall, Claus; Lundvall, Lene; McGuire, Valerie; Baker, Helen; Campbe, Ig; Eccles, Diana; Carty, Karen; Glasspool, Rosalind; McLaughlin, John R.; Narod, Steven A.; Ji, Bu-Tian; Monteiro, Alvaro N.; Gao, Yu-Tang; Permuth-Wey, Jenny; Parsons, Pg; Chen, Ann; Menon, Usha; Lin, Hui-Yi; Chen, Zhihua; Lázaro, Conxi; Pearce, Celeste L.; Anton-Culver, Hoda; Gemo, Study Collaborators; Gentry-Maharaj, Aleksandra; Pike, Malcolm C.; Harrington, Patricia; Coetzee, Gerry; Dansonka-Mieszkowska, Agnieszka; Noushmehr, Houtan; Kupryjanczyk, Jolanta; Offit, Kenneth; Freedman, Matt; Brca1 and Brca2, the Consortium of Investigators of Modifiers of; Investigators), Australian Cancer Study (Ovarian; Easton, Douglas F.; Pharoah, Paul Pp; Couch, Fergus J.; Group, Australian Ovarian Cancer Study; Gayther, Simon; Antoniou, Antonis C.; Høgdall, Estrid; Chenevix-Trench, Georgia; Consortium of Investigators of Modifiers of Brca1 and BRCA2 (CIMBA) (Lone Sunde, Anne-Bine Semma Skytte members of-); Machackova, Eva; Putignano, Anna Laura

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Susan Ramus
Van Rensburg et al., 2015

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Nature Research, Nature Genetics, 2(47), p. 164-171, 2015

DOI: 10.1038/ng.3185

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@article{Van Rensburg2015,
  abstract = {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 risk of EOC. After imputation to 1000 Genomes Project data, we assessed associations of 11 million genetic variants with EOC risk from 15,437 cases unselected for family history and 30,845 controls and from 15,252 BRCA1 mutation carriers and 8,211 BRCA2 mutation carriers (3,096 with ovarian cancer), and we combined the results in a meta-analysis. This new study design yielded increased statistical power, leading to the discovery of six new EOC susceptibility loci. Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P &lt; 5 × 10(-8). Incorporating these variants into risk assessment tools will improve clinical risk predictions for BRCA1 and BRCA2 mutation carriers.},
  author = {Van Rensburg, E. J. and Yg, Lin and Tyrer, Jonathan and Spindler, Tassja J. and Ramus, Susan J. and Terry, Mb and Terry, Mary Beth and Shen, Howard C. and Southey, Melissa and van Rensburg, Elizabeth J. and Sj, Ramus and Registry, Breast Cancer Family and Sunde, Lone and Skytte, Anne-Bine and Weitzel, Jeffrey N. and Viel, Alessandra and Tj, Spindler and de la Hoya, Miguel and Schmutzler, Rita Katharina and Sutter, Christian and Sinilnikova, Olga M. and Stoppa-Lyonnet, Dominique and Rodriguez, Gustavo C. and Radice, Paolo and Rookus, Matti A. and Tihomirova, Laima and Tung, Nadine and Tischkowitz, Marc and Wang, Xianshu and Vijai, Joseph and Simard, Jacques and Soucy, Penny and Sukiennicki, Grzegorz and Tognazzo, Silvia and Teixeira, Manuel R. and Szabo, Csilla I. and Zidan, Jamal and Tea, Muy-Kheng and Singer, Christian F. and du Bois, Andreas and Tchatchou, Sandrine and Rennert, Gad and Toland, Amanda Ewart and Walsh, Christine and Thomassen, Mads and Soller, Maria and Van Nieuwenhuysen, Els and Vergote, Ignace and van Altena, Anne M. and Stenmark-Askmalm, Marie and Wicklund, Kristine G. and Rebbeck, Timothy R. and Wang-Gohrke, Shan and Wilkens, Lynne R. and Van Altena, A. M. and Rossing, Mary Anne and Rudolph, Anja and Sucheston, Lara and Thompson, Pamela J. and Shvetsov, Yurii B. and Runnebaum, Ingo B. and Woo, Yin-Ling and Vierkant, Robert A. and Schwaab, Ira and Wu, Xifeng and Teo, Soo-Hwang and Weber, Rachel Palmieri and Schildkraut, Joellen M. and Terry, Kathryn L. and Tworoger, Shelley Ss and Salvesen, Helga B. and Yang, Hannah and Tangen, Ingvild L. and Wentzensen, Nicolas and Zheng, Wei and Whittemore, Alice S. and Song, Honglin and Siddiqui, Nadeem and Ziogas, Argyrios and Rothstein, Joseph H. and Sieh, Weiva and Shu, Xiao-Ou and Wu, Anna H. and Rosen, Barry and Risch, Harvey A. and Sellers, Thomas A. and Tsai, Ya-Yu and Timorek, Agnieszka and Rzepecka, Iwona K. and Kuchenbaecker, Karoline B. and Lee, Janet M. and Lin, Yvonne G. and Coetzee, Simon and Li, Qiyuan and Goldgar, David E. and Miron, Alexander and Buys, Saundra Ss and Hazelett, Dennis and Janavicius, Ramunas and Dorfling, Cecilia M. and Neuhausen, Susan L. and Ding, Yuan Chun and Hansen, Thomas V. O. and Beesley, Jonathan and Jonson, Lars and Gerdes, Anne-Marie and Ejlertsen, Bent and Barrowdale, Daniel and Osorio, Ana and Dennis, Joe and Lawrenson, Kate and Benitez, Javier and Peterlongo, Paolo and Garcia, Maria Jose and Pejovic, Tanja and Komenaka, Ian and Peissel, Bernard and Ganschow, Pamela and McGuffog, Lesley and Manoukian, Siranoush and Bean, Yukie and Bernard, Loris and Bonanni, Bernardo and Papi, Laura and Healey, Sue and Ottini, Laura and Fostira, Florentia and Perkins, Jo and Konstantopoulou, Irene and Platte, Radka and Garber, Judy and Frost, Debra and Meindl, Alfons and Ellis, Steve and Godwin, Andrew K. and Engel, Christoph and Mazoyer, Sylvie and Claes, Kathleen and Damiola, Francesca and De Leeneer, Kim and Piedmonte, Marion and O'Malley, David M. and Kirk, Judy and Caldes, Trinidad and Nevanlinna, Heli and Oosterwijk, Jan C. and Hamann, Ute and Isaccs, Claudine and Imyanitov, Evgeny N. and De La Hoya, M. and Olah, Edith and Caligo, Maria A. and Plante, Marie and Aittomäki, Kristiina and Campbell, Ian G. and Barkardottir, Rosa B. and Hogervorst, Frans B. L. and Montagna, Marco and Margriet Collée, J. and Diez, Orland and Blanco, Ignacio and Brunet, Joan and Pankratz, Vernon S. and Jakubowska, Anna and Gronwald, Jacek and Kb, Kuchenbaecker and Lubinski, Jan and Lindor, Noralane and Pujana, Miquel Angel and Pfeiler, Georg and Kauff, Noah and Phelan, Catherine M. and Aghajanian, Carol A. and Mai, Phuong L. and Lazaro, Conxi and Berger, Andreas and Mulligan, Anna Marie and Greene, Mark H. and Lee, Andrew W. and Andrulis, Irene L. and Glendon, Gord and Jensen, Uffe Birk and Kruse, Torben A. and Bojesen, Anders and Friedman, Eitan and Olopade, Olufunmilayo I. and Laitman, Yael and Nussbaum, Robert L. and Liljegren, Annelie and Nathanson, Katherine L. and Lee, Alice W. and Aittomaeki, Kristiina and Arver, Brita and Jønson, Lars and Einbeigi, Zakaria and Domchek, Susan M. and Lu, Karen H. and Karlan, Beth Y. and Jose Garcia, Maria and Lester, Jenny and Ekici, Arif B. and Hein, Alexander and Collée, Jm Margriet and Lee, Jm and Beckmann, Matthias W. and Fasching, Peter A. and Pelttari, Liisa M. and Lambrechts, Diether and Modugno, Francesmary and Lambrechts, Sandrina and Angel Pujana, Miguel and Leminen, Arto and Dicks, Ed and Moysich, Kirsten B. and Ness, Roberta B. and Doherty, Jennifer A. and Lazaroso, Conxi and Butzow, Ralf and Odunsi, Kunle and ,  and Chang-Claude, Jenny and Kelley, Joseph L. and Edwards, Robert P. and Eilber, Ursula and Matsuo, Keitaro and Heitz, Florian and Orsulic, Sandra and Lele, Shashi and Goodman, Marc T. and Harter, Philipp and Embrace, Godwin Ak and Hosono, Satoyo and Hillemanns, Peter and Jensen, Allan and Antonenkova, Natalia and Kjaer, Susanne Krüger and Hogdall, Estrid and Bogdanova, Natalia and Hasmad, Hanis Nazihah and Hc, Shen and Azmi, Mat Adenan Noor and Fridley, Brooke L. and Goode, Ellen L. and Cunningham, Julie M. and Bruinsma, Fiona and Giles, Graham Gg and Poole, Elizabeth M. and Liang, Dong and Dürst, Matthias and Hildebrandt, Michelle A. T. and Dörk, Thilo and Orlow, Irene and Levine, Douglas A. and Bisogna, Maria and Olson, Sara H. and Investigators, KConFab and Berchuck, Andrew and Iversen, Edwin S. and Concannon, Patrick and Collaborators, Gemo Study and Cramer, Daniel W. and Du Bois, A. and Bandera, Elisa V. and Massuger, Leon F. A. G. and Duerst, Matthias and Krakstad, Camilla and Bjorge, Line and Doerk, Thilo and Hebon, Olah E. and Aben, Katja K. H. and Kiemeney, Lambertus A. and Kellar, Melissa and Brooks-Wilson, Angela and Kelemen, Linda E. and Nedergaard, Lotte and Cook, Linda S. and Le, Nhu D. and McNeish, Ian and Cybulski, Cezary and Pasini, Barbara and Lissowska, Jolanta and Paul, James and Brinton, Louise A. and Hogdall, Claus and Lundvall, Lene and McGuire, Valerie and Baker, Helen and Campbe, Ig and Eccles, Diana and Carty, Karen and Glasspool, Rosalind and McLaughlin, John R. and Narod, Steven A. and Ji, Bu-Tian and Monteiro, Alvaro N. and Gao, Yu-Tang and Permuth-Wey, Jenny and Parsons, Pg and Chen, Ann and Menon, Usha and Lin, Hui-Yi and Chen, Zhihua and Lázaro, Conxi and Pearce, Celeste L. and Anton-Culver, Hoda and Gemo, Study Collaborators and Gentry-Maharaj, Aleksandra and Pike, Malcolm C. and Harrington, Patricia and Coetzee, Gerry and Dansonka-Mieszkowska, Agnieszka and Noushmehr, Houtan and Kupryjanczyk, Jolanta and Offit, Kenneth and Freedman, Matt and Brca1 and Brca2, the Consortium of Investigators of Modifiers of and Investigators), Australian Cancer Study (Ovarian and Easton, Douglas F. and Pharoah, Paul Pp and Couch, Fergus J. and Group, Australian Ovarian Cancer Study and Gayther, Simon and Antoniou, Antonis C. and Høgdall, Estrid and Chenevix-Trench, Georgia and Consortium of Investigators of Modifiers of Brca1 and BRCA2 (CIMBA) (Lone Sunde, Anne-Bine Semma Skytte members of-) and Machackova, Eva and Putignano, Anna Laura},
  doi = {10.1038/ng.3185},
  journal = {Nature Genetics},
  month = {jan},
  pages = {164-171},
  title = {Identification of six new susceptibility loci for invasive epithelial ovarian cancer.},
  url = {http://www.nature.com/articles/ng.3185.pdf},
  volume = {47},
  year = {2015}
}

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Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

Journal article published in 2015 by E. J. Van Rensburg, Lin Yg, Jonathan Tyrer, Tassja J. Spindler, Susan J. Ramus

, Mb Terry, Mary Beth Terry, Howard C. Shen, Melissa Southey, Elizabeth J. van Rensburg, Ramus Sj, Breast Cancer Family Registry, Lone Sunde, Anne-Bine Skytte

, Jeffrey N. Weitzel

and other authors. E. J. Van Rensburg, Lin Yg, Jonathan Tyrer, Tassja J. Spindler, Susan J. Ramus

, Mb Terry, Mary Beth Terry, Howard C. Shen, Melissa Southey, Elizabeth J. van Rensburg, Ramus Sj, Breast Cancer Family Registry, Lone Sunde, Anne-Bine Skytte

, Jeffrey N. Weitzel

, Alessandra Viel

, Spindler Tj, Miguel de la Hoya, Rita Katharina Schmutzler, Christian Sutter, Olga M. Sinilnikova, Dominique Stoppa-Lyonnet, Gustavo C. Rodriguez, Paolo Radice

, Matti A. Rookus, Laima Tihomirova, Nadine Tung, Marc Tischkowitz, Xianshu Wang, Joseph Vijai

, Jacques Simard, Penny Soucy, Grzegorz Sukiennicki, Silvia Tognazzo, Manuel R. Teixeira

, Csilla I. Szabo, Jamal Zidan, Muy-Kheng Tea, Christian F. Singer, Andreas du Bois, Sandrine Tchatchou, Gad Rennert, Amanda Ewart Toland

, Christine Walsh, Mads Thomassen, Maria Soller, Els Van Nieuwenhuysen, Ignace Vergote, Anne M. van Altena, Marie Stenmark-Askmalm, Kristine G. Wicklund, Timothy R. Rebbeck, Shan Wang-Gohrke, Lynne R. Wilkens, A. M. Van Altena, Mary Anne Rossing, Anja Rudolph, Lara Sucheston, Pamela J. Thompson, Yurii B. Shvetsov, Ingo B. Runnebaum, Yin-Ling Woo

, Robert A. Vierkant, Ira Schwaab, Xifeng Wu, Soo-Hwang Teo, Rachel Palmieri Weber, Joellen M. Schildkraut, Kathryn L. Terry, Shelley Ss Tworoger

, Helga B. Salvesen, Hannah Yang, Ingvild L. Tangen, Nicolas Wentzensen, Wei Zheng, Alice S. Whittemore, Honglin Song, Nadeem Siddiqui, Argyrios Ziogas

, Joseph H. Rothstein, Weiva Sieh, Xiao-Ou Shu, Anna H. Wu, Barry Rosen, Harvey A. Risch, Thomas A. Sellers, Ya-Yu Tsai, Agnieszka Timorek, Iwona K. Rzepecka, Karoline B. Kuchenbaecker, Janet M. Lee, Yvonne G. Lin, Simon Coetzee, Qiyuan Li, David E. Goldgar, Alexander Miron, Saundra Ss Buys, Dennis Hazelett, Ramunas Janavicius, Cecilia M. Dorfling, Susan L. Neuhausen, Yuan Chun Ding, Thomas V. O. Hansen, Jonathan Beesley

, Lars Jonson, Anne-Marie Gerdes, Bent Ejlertsen, Daniel Barrowdale, Ana Osorio, Joe Dennis

, Kate Lawrenson, Javier Benitez, Paolo Peterlongo, Maria Jose Garcia

, Tanja Pejovic, Ian Komenaka, Bernard Peissel, Pamela Ganschow, Lesley McGuffog, Siranoush Manoukian

, Yukie Bean, Loris Bernard, Bernardo Bonanni, Laura Papi, Sue Healey, Laura Ottini, Florentia Fostira, Jo Perkins, Irene Konstantopoulou, Radka Platte, Judy Garber, Debra Frost, Alfons Meindl, Steve Ellis, Andrew K. Godwin, Christoph Engel

, Sylvie Mazoyer, Kathleen Claes, Francesca Damiola

, Kim De Leeneer, Marion Piedmonte, David M. O'Malley, Judy Kirk, Trinidad Caldes, Heli Nevanlinna, Jan C. Oosterwijk, Ute Hamann, Claudine Isaccs, Evgeny N. Imyanitov, M. De La Hoya, Edith Olah, Maria A. Caligo, Marie Plante, Kristiina Aittomäki, Ian G. Campbell, Rosa B. Barkardottir, Frans B. L. Hogervorst, Marco Montagna, J. Margriet Collée, Orland Diez, Ignacio Blanco

, Joan Brunet, Vernon S. Pankratz, Anna Jakubowska

, Jacek Gronwald, Kuchenbaecker Kb, Jan Lubinski, Noralane Lindor, Miquel Angel Pujana, Georg Pfeiler, Noah Kauff, Catherine M. Phelan, Carol A. Aghajanian, Phuong L. Mai, Conxi Lazaro, Andreas Berger, Anna Marie Mulligan, Mark H. Greene

, Andrew W. Lee, Irene L. Andrulis

, Gord Glendon, Uffe Birk Jensen, Torben A. Kruse, Anders Bojesen, Eitan Friedman, Olufunmilayo I. Olopade, Yael Laitman, Robert L. Nussbaum, Annelie Liljegren, Katherine L. Nathanson, Alice W. Lee, Kristiina Aittomaeki, Brita Arver, Lars Jønson, Zakaria Einbeigi, Susan M. Domchek, Karen H. Lu, Beth Y. Karlan, Maria Jose Garcia, Jenny Lester, Arif B. Ekici

, Alexander Hein

, Jm Margriet Collée

, Jm Lee, Matthias W. Beckmann, Peter A. Fasching, Liisa M. Pelttari, Diether Lambrechts

, Francesmary Modugno, Sandrina Lambrechts, Miguel Angel Pujana, Arto Leminen, Ed Dicks, Kirsten B. Moysich, Roberta B. Ness, Jennifer A. Doherty, Conxi Lazaroso, Ralf Butzow, Kunle Odunsi, , Jenny Chang-Claude, Joseph L. Kelley, Robert P. Edwards, Ursula Eilber, Keitaro Matsuo

, Florian Heitz, Sandra Orsulic, Shashi Lele, Marc T. Goodman, Philipp Harter, Godwin Ak Embrace, Satoyo Hosono, Peter Hillemanns, Allan Jensen, Natalia Antonenkova, Susanne Krüger Kjaer, Estrid Hogdall, Natalia Bogdanova, Hanis Nazihah Hasmad, Shen Hc, Mat Adenan Noor Azmi, Brooke L. Fridley

, Ellen L. Goode, Julie M. Cunningham

, Fiona Bruinsma, Graham Gg Giles, Elizabeth M. Poole, Dong Liang, Matthias Dürst, Michelle A. T. Hildebrandt, Thilo Dörk, Irene Orlow, Douglas A. Levine

, Maria Bisogna, Sara H. Olson, KConFab Investigators, Andrew Berchuck, Edwin S. Iversen, Patrick Concannon, Gemo Study Collaborators, Daniel W. Cramer, A. Du Bois, Elisa V. Bandera, Leon F. A. G. Massuger, Matthias Duerst, Camilla Krakstad, Line Bjorge, Thilo Doerk, Olah E. Hebon, Katja K. H. Aben, Lambertus A. Kiemeney, Melissa Kellar, Angela Brooks-Wilson, Linda E. Kelemen, Lotte Nedergaard, Linda S. Cook, Nhu D. Le, Ian McNeish

, Cezary Cybulski, Barbara Pasini, Jolanta Lissowska, James Paul, Louise A. Brinton, Claus Hogdall, Lene Lundvall, Valerie McGuire, Helen Baker, Ig Campbe, Diana Eccles, Karen Carty, Rosalind Glasspool, John R. McLaughlin, Steven A. Narod, Bu-Tian Ji, Alvaro N. Monteiro

, Yu-Tang Gao, Jenny Permuth-Wey, Pg Parsons, Ann Chen, Usha Menon, Hui-Yi Lin, Zhihua Chen, Conxi Lázaro, Celeste L. Pearce, Hoda Anton-Culver, Study Collaborators Gemo, Aleksandra Gentry-Maharaj, Malcolm C. Pike, Patricia Harrington, Gerry Coetzee, Agnieszka Dansonka-Mieszkowska, Houtan Noushmehr, Jolanta Kupryjanczyk, Kenneth Offit, Matt Freedman, the Consortium of Investigators of Modifiers of Brca1 and Brca2, Australian Cancer Study (Ovarian Investigators), Douglas F. Easton, Paul Pp Pharoah, Fergus J. Couch, Australian Ovarian Cancer Study Group, Simon Gayther, Antonis C. Antoniou, Estrid Høgdall, Georgia Chenevix-Trench, Anne-Bine Semma Skytte members of-) Consortium of Investigators of Modifiers of Brca1 and BRCA2 (CIMBA) (Lone Sunde, Eva Machackova

, Anna Laura Putignano

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Abstract

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 risk of EOC. After imputation to 1000 Genomes Project data, we assessed associations of 11 million genetic variants with EOC risk from 15,437 cases unselected for family history and 30,845 controls and from 15,252 BRCA1 mutation carriers and 8,211 BRCA2 mutation carriers (3,096 with ovarian cancer), and we combined the results in a meta-analysis. This new study design yielded increased statistical power, leading to the discovery of six new EOC susceptibility loci. Variants at 1p36 (nearest gene, WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all with P < 5 × 10(-8). Incorporating these variants into risk assessment tools will improve clinical risk predictions for BRCA1 and BRCA2 mutation carriers.

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Identification of six new susceptibility loci for invasive epithelial ovarian cancer.

Abstract