Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

Research output: Contribution to journalJournal articlepeer-review

Standard

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; Aittomäki, Kristiina; Ambrosone, Christine B; 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; Caldes, Trinidad; Caligo, Maria A; Canzian, Federico; Carpenter, Jane; Chang-Claude, Jenny; Chanock, Stephen J; Chung, 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 M; dos Santos Silva, Isabel; Dumont, Martine; Dunning, Alison M; Eccles, Diana M; Ehrencrona, Hans; Ekici, Arif B; Eliassen, Heather; Ellis, Steve D; Fasching, Peter A; Figueroa, Jonine; Flesch-Janys, Dieter; Försti, Asta; Fostira, Florentia; Foulkes, William D; Friebel, Tara M; Friedman, Eitan; Frost, Debra; Gabrielson, Marike; Gammon, Marilie D; Ganz, Patricia A; Gapstur, Susan M; Garber, Judy; Gaudet, Mia; Gayther, Simon A; Gerdes, Anne-Marie; Ghoussaini, Maya; Giles, Graham; Glendon, Gord; Godwin, Andrew K; Goldberg, Mark S; Goldgar, David E; González-Neira, Anna; Greene, Mark H; Gronwald, Jacek; Guénel, Pascal; Gunter, Marc J; Haeberle, Lothar; Haiman, Christopher A; Hamann, Ute; Hansen, Thomas v O; Hart, Steven N; Healey, Sue; Heikkinen, Tuomas; Henderson, Brian E; Herzog, Josef; Hogervorst, Frans B L; Hollestelle, Antoinette; Hooning, Maartje J; Hoover, Robert N; Hopper, John L; Humphreys, Keith; 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 Marie; Muranen, Taru A; Nathanson, Katherine L; Neuhausen, Susan L; Nevanlinna, Heli; Nordestgaard, Børge 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; Peto, Julian; Phelan, Catherine M; Pilarski, Robert; Poppe, Bruce; Pylkäs, Katri; Radice, Paolo; Rahman, Nazneen; Rantala, Johanna; Rappaport, Christine; Rennert, Gad; Richardson, Andrea L; Robson, Mark; Romieu, Isabelle; Rudolph, Anja; Rutgers, Emiel J; Sánchez, Maria-José; Santella, Regina M; Sawyer, Elinor J; Schmidt, Daniel F; Schmidt, Marjanka K; Schmutzler, Rita K; Schumacher, Fredrick; Scott, Rodney J; Senter, Leigha; Sharma, Priyanka; Simard, Jacques; Singer, Christian F; Sinilnikova, Olga M; Soucy, Penny; Southey, Melissa; Steinemann, Doris; Stenmark-Askmalm, Marie; 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 E; Tollenaar, Robert A E M; Tomlinson, Ian; Truong, Therese; Tsimiklis, Helen; Teulé, Alex; Tumino, Rosario; Tung, Nadine; Turnbull, Clare; Ursin, Giski; van Deurzen, Carolien H M; van Rensburg, Elizabeth J; Varon-Mateeva, Raymonda; Wang, Zhaoming; Wang-Gohrke, Shan; Weiderpass, Elisabete; Weitzel, Jeffrey N; Whittemore, Alice S; 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 P D; Monteiro, Alvaro N A; García-Closas, Montserrat; Easton, Douglas F; Antoniou, Antonis C.

In: Nature Communications, Vol. 7, 11375, 2016, p. 1-13.

Research output: Contribution to journalJournal articlepeer-review

Harvard

Couch, FJ, Kuchenbaecker, KB, Michailidou, K, Mendoza-Fandino, GA, Nord, S, Lilyquist, J, Olswold, C, Hallberg, E, Agata, S, Ahsan, H, Aittomäki, K, Ambrosone, CB, Andrulis, IL, Anton-Culver, H, Arndt, V, Arun, BK, Arver, B, Barile, M, Barkardottir, RB, Barrowdale, D, Beckmann, L, Beckmann, MW, Benitez, J, Blank, SV, Blomqvist, C, Bogdanova, NV, Bojesen, SE, Bolla, MK, Bonanni, B, Brauch, H, Brenner, H, Burwinkel, B, Buys, S, Caldes, T, Caligo, MA, Canzian, F, Carpenter, J, Chang-Claude, J, Chanock, SJ, Chung, WK, Claes, KBM, Cox, A, Cross, SS, Cunningham, JM, Czene, K, Daly, MB, Damiola, F, Darabi, H, de la Hoya, M, Devilee, P, Diez, O, Ding, YC, Dolcetti, R, Domchek, SM, Dorfling, CM, dos Santos Silva, I, Dumont, M, Dunning, AM, Eccles, DM, Ehrencrona, H, Ekici, AB, Eliassen, H, Ellis, SD, Fasching, PA, Figueroa, J, Flesch-Janys, D, Försti, A, Fostira, F, Foulkes, WD, Friebel, TM, Friedman, E, Frost, D, Gabrielson, M, Gammon, MD, Ganz, PA, Gapstur, SM, Garber, J, Gaudet, M, Gayther, SA, Gerdes, A-M, Ghoussaini, M, Giles, G, Glendon, G, Godwin, AK, Goldberg, MS, Goldgar, DE, González-Neira, A, Greene, MH, Gronwald, J, Guénel, P, Gunter, MJ, Haeberle, L, Haiman, CA, Hamann, U, Hansen, TVO, Hart, SN, Healey, S, Heikkinen, T, Henderson, BE, Herzog, J, Hogervorst, FBL, Hollestelle, A, Hooning, MJ, Hoover, RN, Hopper, JL, Humphreys, K, Hunter, DJ, Huzarski, T, Imyanitov, EN, Isaacs, C, Jakubowska, A, James, P, Janavicius, R, Jensen, UB, John, EM, Jones, M, Kabisch, M, Kar, S, Karlan, BY, Khan, S, Khaw, K-T, Kibriya, MG, Knight, JA, Ko, Y-D, Konstantopoulou, I, Kosma, V-M, Kristensen, V, Kwong, A, Laitman, Y, Lambrechts, D, Lazaro, C, Lee, E, Le Marchand, L, Lester, J, Lindblom, A, Lindor, N, Lindstrom, S, Liu, J, Long, J, Lubinski, J, Mai, PL, Makalic, E, Malone, KE, Mannermaa, A, Manoukian, S, Margolin, S, Marme, F, Martens, JWM, McGuffog, L, Meindl, A, Miller, A, Milne, RL, Miron, P, Montagna, M, Mazoyer, S, Mulligan, AM, Muranen, TA, Nathanson, KL, Neuhausen, SL, Nevanlinna, H, Nordestgaard, BG, Nussbaum, RL, Offit, K, Olah, E, Olopade, OI, Olson, JE, Osorio, A, Park, SK, Peeters, PH, Peissel, B, Peterlongo, P, Peto, J, Phelan, CM, Pilarski, R, Poppe, B, Pylkäs, K, Radice, P, Rahman, N, Rantala, J, Rappaport, C, Rennert, G, Richardson, AL, Robson, M, Romieu, I, Rudolph, A, Rutgers, EJ, Sánchez, M-J, Santella, RM, Sawyer, EJ, Schmidt, DF, Schmidt, MK, Schmutzler, RK, Schumacher, F, Scott, RJ, Senter, L, Sharma, P, Simard, J, Singer, CF, Sinilnikova, OM, Soucy, P, Southey, M, Steinemann, D, Stenmark-Askmalm, M, Stoppa-Lyonnet, D, Swerdlow, A, Szabo, CI, Tamimi, R, Tapper, W, Teixeira, MR, Teo, S-H, Terry, MB, Thomassen, M, Thompson, D, Tihomirova, L, Toland, AE, Tollenaar, RAEM, Tomlinson, I, Truong, T, Tsimiklis, H, Teulé, A, Tumino, R, Tung, N, Turnbull, C, Ursin, G, van Deurzen, CHM, van Rensburg, EJ, Varon-Mateeva, R, Wang, Z, Wang-Gohrke, S, Weiderpass, E, Weitzel, JN, Whittemore, AS, Wildiers, H, Winqvist, R, Yang, XR, Yannoukakos, D, Yao, S, Zamora, MP, Zheng, W, Hall, P, Kraft, P, Vachon, C, Slager, S, Chenevix-Trench, G, Pharoah, PPD, Monteiro, ANA, García-Closas, M, Easton, DF & Antoniou, AC 2016, 'Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer', Nature Communications, vol. 7, 11375, pp. 1-13. https://doi.org/10.1038/ncomms11375

APA

Couch, F. J., Kuchenbaecker, K. B., Michailidou, K., Mendoza-Fandino, G. A., Nord, S., Lilyquist, J., Olswold, C., Hallberg, E., Agata, S., Ahsan, H., Aittomäki, K., Ambrosone, C. B., Andrulis, I. L., Anton-Culver, H., Arndt, V., Arun, B. K., Arver, B., Barile, M., Barkardottir, R. B., ... Antoniou, A. C. (2016). Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nature Communications, 7, 1-13. [11375]. https://doi.org/10.1038/ncomms11375

Vancouver

Couch FJ, Kuchenbaecker KB, Michailidou K, Mendoza-Fandino GA, Nord S, Lilyquist J et al. Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. Nature Communications. 2016;7:1-13. 11375. https://doi.org/10.1038/ncomms11375

Author

Couch, Fergus J ; Kuchenbaecker, Karoline B ; Michailidou, Kyriaki ; Mendoza-Fandino, Gustavo A ; Nord, Silje ; Lilyquist, Janna ; Olswold, Curtis ; Hallberg, Emily ; Agata, Simona ; Ahsan, Habibul ; Aittomäki, Kristiina ; Ambrosone, Christine B ; 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 ; Caldes, Trinidad ; Caligo, Maria A ; Canzian, Federico ; Carpenter, Jane ; Chang-Claude, Jenny ; Chanock, Stephen J ; Chung, 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 M ; dos Santos Silva, Isabel ; Dumont, Martine ; Dunning, Alison M ; Eccles, Diana M ; Ehrencrona, Hans ; Ekici, Arif B ; Eliassen, Heather ; Ellis, Steve D ; Fasching, Peter A ; Figueroa, Jonine ; Flesch-Janys, Dieter ; Försti, Asta ; Fostira, Florentia ; Foulkes, William D ; Friebel, Tara M ; Friedman, Eitan ; Frost, Debra ; Gabrielson, Marike ; Gammon, Marilie D ; Ganz, Patricia A ; Gapstur, Susan M ; Garber, Judy ; Gaudet, Mia ; Gayther, Simon A ; Gerdes, Anne-Marie ; Ghoussaini, Maya ; Giles, Graham ; Glendon, Gord ; Godwin, Andrew K ; Goldberg, Mark S ; Goldgar, David E ; González-Neira, Anna ; Greene, Mark H ; Gronwald, Jacek ; Guénel, Pascal ; Gunter, Marc J ; Haeberle, Lothar ; Haiman, Christopher A ; Hamann, Ute ; Hansen, Thomas v O ; Hart, Steven N ; Healey, Sue ; Heikkinen, Tuomas ; Henderson, Brian E ; Herzog, Josef ; Hogervorst, Frans B L ; Hollestelle, Antoinette ; Hooning, Maartje J ; Hoover, Robert N ; Hopper, John L ; Humphreys, Keith ; 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 Marie ; Muranen, Taru A ; Nathanson, Katherine L ; Neuhausen, Susan L ; Nevanlinna, Heli ; Nordestgaard, Børge 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 ; Peto, Julian ; Phelan, Catherine M ; Pilarski, Robert ; Poppe, Bruce ; Pylkäs, Katri ; Radice, Paolo ; Rahman, Nazneen ; Rantala, Johanna ; Rappaport, Christine ; Rennert, Gad ; Richardson, Andrea L ; Robson, Mark ; Romieu, Isabelle ; Rudolph, Anja ; Rutgers, Emiel J ; Sánchez, Maria-José ; Santella, Regina M ; Sawyer, Elinor J ; Schmidt, Daniel F ; Schmidt, Marjanka K ; Schmutzler, Rita K ; Schumacher, Fredrick ; Scott, Rodney J ; Senter, Leigha ; Sharma, Priyanka ; Simard, Jacques ; Singer, Christian F ; Sinilnikova, Olga M ; Soucy, Penny ; Southey, Melissa ; Steinemann, Doris ; Stenmark-Askmalm, Marie ; 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 E ; Tollenaar, Robert A E M ; Tomlinson, Ian ; Truong, Therese ; Tsimiklis, Helen ; Teulé, Alex ; Tumino, Rosario ; Tung, Nadine ; Turnbull, Clare ; Ursin, Giski ; van Deurzen, Carolien H M ; van Rensburg, Elizabeth J ; Varon-Mateeva, Raymonda ; Wang, Zhaoming ; Wang-Gohrke, Shan ; Weiderpass, Elisabete ; Weitzel, Jeffrey N ; Whittemore, Alice S ; 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 P D ; Monteiro, Alvaro N A ; García-Closas, Montserrat ; Easton, Douglas F ; Antoniou, Antonis C. / Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer. In: Nature Communications. 2016 ; Vol. 7. pp. 1-13.

Bibtex

@article{4b8195d68bcc4895ab166f850ff2281b,
title = "Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer",
abstract = "Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for ∼11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.",
keywords = "Journal Article",
author = "Couch, {Fergus J} and Kuchenbaecker, {Karoline B} and Kyriaki Michailidou and Mendoza-Fandino, {Gustavo A} and Silje Nord and Janna Lilyquist and Curtis Olswold and Emily Hallberg and Simona Agata and Habibul Ahsan and Kristiina Aittom{\"a}ki and Ambrosone, {Christine B} and Andrulis, {Irene L} and Hoda Anton-Culver and Volker Arndt and Arun, {Banu K} and Brita Arver and Monica Barile and Barkardottir, {Rosa B} and Daniel Barrowdale and Lars Beckmann and Beckmann, {Matthias W} and Javier Benitez and Blank, {Stephanie V} and Carl Blomqvist and Bogdanova, {Natalia V} and Bojesen, {Stig E} and Bolla, {Manjeet K} and Bernardo Bonanni and Hiltrud Brauch and Hermann Brenner and Barbara Burwinkel and Saundra Buys and Trinidad Caldes and Caligo, {Maria A} and Federico Canzian and Jane Carpenter and Jenny Chang-Claude and Chanock, {Stephen J} and Chung, {Wendy K} and Claes, {Kathleen B M} and Angela Cox and Cross, {Simon S} and Cunningham, {Julie M} and Kamila Czene and Daly, {Mary B} and Francesca Damiola and Hatef Darabi and {de la Hoya}, Miguel and Peter Devilee and Orland Diez and Ding, {Yuan C} and Riccardo Dolcetti and Domchek, {Susan M} and Dorfling, {Cecilia M} and {dos Santos Silva}, Isabel and Martine Dumont and Dunning, {Alison M} and Eccles, {Diana M} and Hans Ehrencrona and Ekici, {Arif B} and Heather Eliassen and Ellis, {Steve D} and Fasching, {Peter A} and Jonine Figueroa and Dieter Flesch-Janys and Asta F{\"o}rsti and Florentia Fostira and Foulkes, {William D} and Friebel, {Tara M} and Eitan Friedman and Debra Frost and Marike Gabrielson and Gammon, {Marilie D} and Ganz, {Patricia A} and Gapstur, {Susan M} and Judy Garber and Mia Gaudet and Gayther, {Simon A} and Anne-Marie Gerdes and Maya Ghoussaini and Graham Giles and Gord Glendon and Godwin, {Andrew K} and Goldberg, {Mark S} and Goldgar, {David E} and Anna Gonz{\'a}lez-Neira and Greene, {Mark H} and Jacek Gronwald and Pascal Gu{\'e}nel and Gunter, {Marc J} and Lothar Haeberle and Haiman, {Christopher A} and Ute Hamann and Hansen, {Thomas v O} and Hart, {Steven N} and Sue Healey and Tuomas Heikkinen and Henderson, {Brian E} and Josef Herzog and Hogervorst, {Frans B L} and Antoinette Hollestelle and Hooning, {Maartje J} and Hoover, {Robert N} and Hopper, {John L} and Keith Humphreys and Hunter, {David J} and Tomasz Huzarski and Imyanitov, {Evgeny N} and Claudine Isaacs and Anna Jakubowska and Paul James and Ramunas Janavicius and Jensen, {Uffe Birk} and John, {Esther M} and Michael Jones and Maria Kabisch and Siddhartha Kar and Karlan, {Beth Y} and Sofia Khan and Kay-Tee Khaw and Kibriya, {Muhammad G} and Knight, {Julia A} and Yon-Dschun Ko and Irene Konstantopoulou and Veli-Matti Kosma and Vessela Kristensen and Ava Kwong and Yael Laitman and Diether Lambrechts and Conxi Lazaro and Eunjung Lee and {Le Marchand}, Loic and Jenny Lester and Annika Lindblom and Noralane Lindor and Sara Lindstrom and Jianjun Liu and Jirong Long and Jan Lubinski and Mai, {Phuong L} and Enes Makalic and Malone, {Kathleen E} and Arto Mannermaa and Siranoush Manoukian and Sara Margolin and Frederik Marme and Martens, {John W. M.} and Lesley McGuffog and Alfons Meindl and Austin Miller and Milne, {Roger L} and Penelope Miron and Marco Montagna and Sylvie Mazoyer and Mulligan, {Anna Marie} and Muranen, {Taru A} and Nathanson, {Katherine L} and Neuhausen, {Susan L} and Heli Nevanlinna and Nordestgaard, {B{\o}rge G} and Nussbaum, {Robert L} and Kenneth Offit and Edith Olah and Olopade, {Olufunmilayo I} and Olson, {Janet E} and Ana Osorio and Park, {Sue K} and Peeters, {Petra H} and Bernard Peissel and Paolo Peterlongo and Julian Peto and Phelan, {Catherine M} and Robert Pilarski and Bruce Poppe and Katri Pylk{\"a}s and Paolo Radice and Nazneen Rahman and Johanna Rantala and Christine Rappaport and Gad Rennert and Richardson, {Andrea L} and Mark Robson and Isabelle Romieu and Anja Rudolph and Rutgers, {Emiel J} and Maria-Jos{\'e} S{\'a}nchez and Santella, {Regina M} and Sawyer, {Elinor J} and Schmidt, {Daniel F} and Schmidt, {Marjanka K} and Schmutzler, {Rita K} and Fredrick Schumacher and Scott, {Rodney J} and Leigha Senter and Priyanka Sharma and Jacques Simard and Singer, {Christian F} and Sinilnikova, {Olga M} and Penny Soucy and Melissa Southey and Doris Steinemann and Marie Stenmark-Askmalm and Dominique Stoppa-Lyonnet and Anthony Swerdlow and Szabo, {Csilla I} and Rulla Tamimi and William Tapper and Teixeira, {Manuel R} and Soo-Hwang Teo and Terry, {Mary B} and Mads Thomassen and Deborah Thompson and Laima Tihomirova and Toland, {Amanda E} and Tollenaar, {Robert A E M} and Ian Tomlinson and Therese Truong and Helen Tsimiklis and Alex Teul{\'e} and Rosario Tumino and Nadine Tung and Clare Turnbull and Giski Ursin and {van Deurzen}, {Carolien H M} and {van Rensburg}, {Elizabeth J} and Raymonda Varon-Mateeva and Zhaoming Wang and Shan Wang-Gohrke and Elisabete Weiderpass and Weitzel, {Jeffrey N} and Whittemore, {Alice S} and Hans Wildiers and Robert Winqvist and Yang, {Xiaohong R} and Drakoulis Yannoukakos and Song Yao and Zamora, {M Pilar} and Wei Zheng and Per Hall and Peter Kraft and Celine Vachon and Susan Slager and Georgia Chenevix-Trench and Pharoah, {Paul P D} and Monteiro, {Alvaro N A} and Montserrat Garc{\'i}a-Closas and Easton, {Douglas F} and Antoniou, {Antonis C}",
year = "2016",
doi = "10.1038/ncomms11375",
language = "English",
volume = "7",
pages = "1--13",
journal = "Nature Communications",
issn = "2041-1723",
publisher = "nature publishing group",

}

RIS

TY - JOUR

T1 - Identification of four novel susceptibility loci for oestrogen receptor negative breast cancer

AU - Couch, Fergus J

AU - Kuchenbaecker, Karoline B

AU - Michailidou, Kyriaki

AU - Mendoza-Fandino, Gustavo A

AU - Nord, Silje

AU - Lilyquist, Janna

AU - Olswold, Curtis

AU - Hallberg, Emily

AU - Agata, Simona

AU - Ahsan, Habibul

AU - Aittomäki, Kristiina

AU - Ambrosone, Christine B

AU - Andrulis, Irene L

AU - Anton-Culver, Hoda

AU - Arndt, Volker

AU - Arun, Banu K

AU - Arver, Brita

AU - Barile, Monica

AU - Barkardottir, Rosa B

AU - Barrowdale, Daniel

AU - Beckmann, Lars

AU - Beckmann, Matthias W

AU - Benitez, Javier

AU - Blank, Stephanie V

AU - Blomqvist, Carl

AU - Bogdanova, Natalia V

AU - Bojesen, Stig E

AU - Bolla, Manjeet K

AU - Bonanni, Bernardo

AU - Brauch, Hiltrud

AU - Brenner, Hermann

AU - Burwinkel, Barbara

AU - Buys, Saundra

AU - Caldes, Trinidad

AU - Caligo, Maria A

AU - Canzian, Federico

AU - Carpenter, Jane

AU - Chang-Claude, Jenny

AU - Chanock, Stephen J

AU - Chung, Wendy K

AU - Claes, Kathleen B M

AU - Cox, Angela

AU - Cross, Simon S

AU - Cunningham, Julie M

AU - Czene, Kamila

AU - Daly, Mary B

AU - Damiola, Francesca

AU - Darabi, Hatef

AU - de la Hoya, Miguel

AU - Devilee, Peter

AU - Diez, Orland

AU - Ding, Yuan C

AU - Dolcetti, Riccardo

AU - Domchek, Susan M

AU - Dorfling, Cecilia M

AU - dos Santos Silva, Isabel

AU - Dumont, Martine

AU - Dunning, Alison M

AU - Eccles, Diana M

AU - Ehrencrona, Hans

AU - Ekici, Arif B

AU - Eliassen, Heather

AU - Ellis, Steve D

AU - Fasching, Peter A

AU - Figueroa, Jonine

AU - Flesch-Janys, Dieter

AU - Försti, Asta

AU - Fostira, Florentia

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PY - 2016

Y1 - 2016

N2 - Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for ∼11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.

AB - Common variants in 94 loci have been associated with breast cancer including 15 loci with genome-wide significant associations (P<5 × 10(-8)) with oestrogen receptor (ER)-negative breast cancer and BRCA1-associated breast cancer risk. In this study, to identify new ER-negative susceptibility loci, we performed a meta-analysis of 11 genome-wide association studies (GWAS) consisting of 4,939 ER-negative cases and 14,352 controls, combined with 7,333 ER-negative cases and 42,468 controls and 15,252 BRCA1 mutation carriers genotyped on the iCOGS array. We identify four previously unidentified loci including two loci at 13q22 near KLF5, a 2p23.2 locus near WDR43 and a 2q33 locus near PPIL3 that display genome-wide significant associations with ER-negative breast cancer. In addition, 19 known breast cancer risk loci have genome-wide significant associations and 40 had moderate associations (P<0.05) with ER-negative disease. Using functional and eQTL studies we implicate TRMT61B and WDR43 at 2p23.2 and PPIL3 at 2q33 in ER-negative breast cancer aetiology. All ER-negative loci combined account for ∼11% of familial relative risk for ER-negative disease and may contribute to improved ER-negative and BRCA1 breast cancer risk prediction.

KW - Journal Article

U2 - 10.1038/ncomms11375

DO - 10.1038/ncomms11375

M3 - Journal article

C2 - 27117709

VL - 7

SP - 1

EP - 13

JO - Nature Communications

JF - Nature Communications

SN - 2041-1723

M1 - 11375

ER -

ID: 177067393