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1. PALB2, CHEK2 and ATM rare variants and cancer risk:data from COGS

Author: Southey, M. C. (Melissa C.), Goldgar, D. E. (David E.), Winqvist, R. (Robert), Pylkäs, K. (Katri), Couch, F. (Fergus), Tischkowitz, M. (Marc), Foulkes, W. D. (William D.), Dennis, J. (Joe), Michailidou, K. (Kyriaki), van Rensburg, E. J. (Elizabeth J.), Heikkinen, T. (Tuomas), Nevanlinna, H. (Heli), Hopper, J. L. (John L.), Doerk, T. (Thilo), Claes, K. B. (Kathleen B. M.), Reis-Filho, J. (Jorge), Teo, Z. L. (Zhi Ling), Radice, P. (Paolo), Catucci, I. (Irene), Peterlongo, P. (Paolo), Tsimiklis, H. (Helen), Odefrey, F. A. (Fabrice A.), Dowty, J. G. (James G.), Schmidt, M. K. (Marjanka K.), Broeks, A. (Annegien), Hogervorst, F. B. (Frans B.), Verhoef, S. (Senno), Carpenter, J. (Jane), Clarke, C. (Christine), Scott, R. J. (Rodney J.), Fasching, P. A. (Peter A.), Haeberle, L. (Lothar), Ekici, A. B. (Arif B.), Beckmann, M. W. (Matthias W.), Peto, J. (Julian), dos-Santos-Silva, I. (Isabel), Fletcher, O. (Olivia), Johnson, N. (Nichola), Bolla, M. K. (Manjeet K.), Sawyer, E. J. (Elinor J.), Tomlinson, I. (Ian), Kerin, M. J. (Michael J.), Miller, N. (Nicola), Marme, F. (Federik), Burwinkel, B. (Barbara), Yang, R. (Rongxi), Guenel, P. (Pascal), Menegaux, F. (Florence), Sanchez, M. (Marie), Bojesen, S. (Stig), Nielsen, S. F. (Sune F.), Flyger, H. (Henrik), Benitez, J. (Javier), Pilar Zamora, M. (M.), Arias Perez, J. I. (Jose Ignacio), Menendez, P. (Primitiva), Anton-Culver, H. (Hoda), Neuhausen, S. (Susan), Ziogas, A. (Argyrios), Clarke, C. A. (Christina A.), Brenner, H. (Hermann), Arndt, V. (Volker), Stegmaier, C. (Christa), Brauch, H. (Hiltrud), Bruening, T. (Thomas), Ko, Y.-D. (Yon-Dschun), Muranen, T. A. (Taru A.), Aittomaki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N. V. (Natalia V.), Antonenkova, N. N. (Natalia N.), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V.-M. (Veli-Matti), Hartikainen, J. M. (Jaana M.), Spurdle, A. B. (Amanda B.), Wauters, E. (Els), Smeets, D. (Dominiek), Beuselinck, B. (Benoit), Floris, G. (Giuseppe), Chang-Claude, J. (Jenny), Rudolph, A. (Anja), Seibold, P. (Petra), Flesch-Janys, D. (Dieter), Olson, J. E. (Janet E.), Vachon, C. (Celine), Pankratz, V. S. (Vernon S.), McLean, C. (Catriona), Haiman, C. A. (Christopher A.), Henderson, B. E. (Brian E.), Schumacher, F. (Fredrick), Le Marchand, L. (Loic), Kristensen, V. (Vessela), Alnaes, G. G. (Grethe Grenaker), Zheng, W. (Wei), Hunter, D. J. (David J.), Lindstrom, S. (Sara), Hankinson, S. E. (Susan E.), Kraft, P. (Peter), Andrulis, I. (Irene), Knight, J. A. (Julia A.), Glendon, G. (Gord), Mulligan, A. M. (Anna Marie), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Kauppila, S. (Saila), Devilee, P. (Peter), Tollenaar, R. A. (Robert A. E. M.), Seynaeve, C. (Caroline), Hollestelle, A. (Antoinette), Garcia-Closas, M. (Montserrat), Figueroa, J. (Jonine), Chanock, S. J. (Stephen J.), Lissowska, J. (Jolanta), Czene, K. (Kamila), Darabi, H. (Hatef), Eriksson, M. (Mikael), Eccles, D. M. (Diana M.), Rafiq, S. (Sajjad), Tapper, W. J. (William J.), Gerty, S. M. (Sue M.), Hooning, M. J. (Maartje J.), Martens, J. W. (John W. M.), Collee, J. M. (J. Margriet), Tilanus-Linthorst, M. (Madeleine), Hall, P. (Per), Li, J. (Jingmei), Brand, J. S. (Judith S.), Humphreys, K. (Keith), Cox, A. (Angela), Reed, M. W. (Malcolm W. R.), Luccarini, C. (Craig), Baynes, C. (Caroline), Dunning, A. M. (Alison M.), Hamann, U. (Ute), Torres, D. (Diana), Ulmer, H. U. (Hans Ulrich), Ruediger, T. (Thomas), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Slager, S. (Susan), Toland, A. E. (Amanda E.), Ambrosone, C. B. (Christine B.), Yannoukakos, D. (Drakoulis), Swerdlow, A. (Anthony), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Gonzalez-Neira, A. (Anna), Pita, G. (Guillermo), Rosario Alonso, M. (M.), Alvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D. C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Simard, J. (Jacques), Dumont, M. (Martine), Soucy, P. (Penny), Eeles, R. (Rosalind), Muir, K. (Kenneth), Wiklund, F. (Fredrik), Gronberg, H. (Henrik), Schleutker, J. (Johanna), Nordestgaard, B. G. (Borge G.), Weischer, M. (Maren), Travis, R. C. (Ruth C.), Neal, D. (David), Donovan, J. L. (Jenny L.), Hamdy, F. C. (Freddie C.), Khaw, K.-T. (Kay-Tee), Stanford, J. L. (Janet L.), Blot, W. J. (William J.), Thibodeau, S. (Stephen), Schaid, D. J. (Daniel J.), Kelley, J. L. (Joseph L.), Maier, C. (Christiane), Kibel, A. S. (Adam S.), Cybulski, C. (Cezary), Cannon-Albright, L. (Lisa), Butterbach, K. (Katja), Park, J. (Jong), Kaneva, R. (Radka), Batra, J. (Jyotsna), Teixeira, M. R. (Manuel R.), Kote-Jarai, Z. (Zsofia), Al Olama, A. A. (Ali Amin), Benlloch, S. (Sara), Renner, S. P. (Stefan P.), Hartmann, A. (Arndt), Hein, A. (Alexander), Ruebner, M. (Matthias), Lambrechts, D. (Diether), Van Nieuwenhuysen, E. (Els), Vergote, I. (Ignace), Lambretchs, S. (Sandrina), Doherty, J. A. (Jennifer A.), Rossing, M. A. (Mary Anne), Nickels, S. (Stefan), Eilber, U. (Ursula), Wang-Gohrke, S. (Shan), Odunsi, K. (Kunle), Sucheston-Campbell, L. E. (Lara E.), Friel, G. (Grace), Lurie, G. (Galina), Killeen, J. L. (Jeffrey L.), Wilkens, L. R. (Lynne R.), Goodman, M. T. (Marc T.), Runnebaum, I. (Ingo), Hillemanns, P. A. (Peter A.), Pelttari, L. M. (Liisa M.), Butzow, R. (Ralf), Modugno, F. (Francesmary), Edwards, R. P. (Robert P.), Ness, R. B. (Roberta B.), Moysich, K. B. (Kirsten B.), du Bois, A. (Andreas), Heitz, F. (Florian), Harter, P. (Philipp), Kommoss, S. (Stefan), Karlan, B. Y. (Beth Y.), Walsh, C. (Christine), Lester, J. (Jenny), Jensen, A. (Allan), Kjaer, S. K. (Susanne Kruger), Hogdall, E. (Estrid), Peissel, B. (Bernard), Bonanni, B. (Bernardo), Bernard, L. (Loris), Goode, E. L. (Ellen L.), Fridley, B. L. (Brooke L.), Vierkant, R. A. (Robert A.), Cunningham, J. M. (Julie M.), Larson, M. C. (Melissa C.), Fogarty, Z. C. (Zachary C.), Kalli, K. R. (Kimberly R.), Liang, D. (Dong), Lu, K. H. (Karen H.), Hildebrandt, M. A. (Michelle A. T.), Wu, X. (Xifeng), Levine, D. A. (Douglas A.), Dao, F. (Fanny), Bisogna, M. (Maria), Berchuck, A. (Andrew), Iversen, E. S. (Edwin S.), Marks, J. R. (Jeffrey R.), Akushevich, L. (Lucy), Cramer, D. W. (Daniel W.), Schildkraut, J. (Joellen), Terry, K. L. (Kathryn L.), Poole, E. M. (Elizabeth M.), Stampfer, M. (Meir), Tworoger, S. S. (Shelley S.), Bandera, E. V. (Elisa V.), Orlow, I. (Irene), Olson, S. H. (Sara H.), Bjorge, L. (Line), Salvesen, H. B. (Helga B.), van Altena, A. M. (Anne M.), Aben, K. K. (Katja K. H.), Kiemeney, L. A. (Lambertus A.), Massuger, L. F. (Leon F. A. G.), Pejovic, T. (Tanja), Bean, Y. (Yukie), Brooks-Wilson, A. (Angela), Kelemen, L. E. (Linda E.), Cook, L. S. (Linda S.), Le, N. D. (Nhu D.), Grski, B. (Bohdan), Gronwald, J. (Jacek), Menkiszak, J. (Janusz), Hogdall, C. K. (Claus K.), Lundvall, L. (Lene), Nedergaard, L. (Lotte), Engelholm, S. A. (Svend Aage), Dicks, E. (Ed), Tyrer, J. (Jonathan), Campbell, I. (Ian), McNeish, I. (Iain), Paul, J. (James), Siddiqui, N. (Nadeem), Glasspool, R. (Rosalind), Whittemore, A. S. (Alice S.), Rothstein, J. H. (Joseph H.), McGuire, V. (Valerie), Sieh, W. (Weiva), Cai, H. (Hui), Shu, X.-O. (Xiao-Ou), Teten, R. T. (Rachel T.), Sutphen, R. (Rebecca), McLaughlin, J. R. (John R.), Narod, S. A. (Steven A.), Phelan, C. M. (Catherine M.), Monteiro, A. N. (Alvaro N.), Fenstermacher, D. (David), Lin, H.-Y. (Hui-Yi), Permuth, J. B. (Jennifer B.), Sellers, T. A. (Thomas A.), Chen, Y. A. (Y. Ann), Tsai, Y.-Y. (Ya-Yu), Chen, Z. (Zhihua), Gentry-Maharaj, A. (Aleksandra), Gayther, S. A. (Simon A.), Ramus, S. J. (Susan J.), Menon, U. (Usha), Wu, A. H. (Anna H.), Pearce, C. L. (Celeste L.), Van den Berg, D. (David), Pike, M. C. (Malcolm C.), Dansonka-Mieszkowska, A. (Agnieszka), Plisiecka-Halasa, J. (Joanna), Moes-Sosnowska, J. (Joanna), Kupryjanczyk, J. (Jolanta), Pharoah, P. D. (Paul D. P.), Song, H. (Honglin), Winship, I. (Ingrid), Chenevix-Trench, G. (Georgia), Giles, G. G. (Graham G.), Tavtigian, S. V. (Sean V.), Easton, D. F. (Doug F.), and Milne, R. L. (Roger L.)
Subjects: skin and connective tissue diseases
Abstract: Background: The rarity of mutations in PALB2, CHEK2 and ATM make it difficult to estimate precisely associated cancer risks. Population-based family studies have provided evidence that at least some of these mutations are associated with breast cancer risk as high as those associated with rare BRCA2 mutations. We aimed to estimate the relative risks associated with specific rare variants in PALB2, CHEK2 and ATM via a multicentre case-control study. Methods: We genotyped 10 rare mutations using the custom iCOGS array: PALB2 c.1592delT, c.2816T>G and c.3113G>A, CHEK2 c.349A>G, c.538C>T, c.715G>A, c.1036C>T, c.1312G>T, and c.1343T>G and ATM c.7271T>G. We assessed associations with breast cancer risk (42 671 cases and 42 164 controls), as well as prostate (22 301 cases and 22 320 controls) and ovarian (14 542 cases and 23 491 controls) cancer risk, for each variant. Results: For European women, strong evidence of association with breast cancer risk was observed for PALB2 c.1592delT OR 3.44 (95% CI 1.39 to 8.52, p = 7.1 × 10⁻⁵), PALB2 c.3113G>A OR 4.21 (95% CI 1.84 to 9.60, p = 6.9 × 10⁻⁸) and ATM c.7271T>G OR 11.0 (95% CI 1.42 to 85.7, p = 0.0012). We also found evidence of association with breast cancer risk for three variants in CHEK2, c.349A>G OR 2.26 (95% CI 1.29 to 3.95), c.1036C>T OR 5.06 (95% CI 1.09 to 23.5) and c.538C>T OR 1.33 (95% CI 1.05 to 1.67) (p ≤ 0.017). Evidence for prostate cancer risk was observed for CHEK2 c.1343T>G OR 3.03 (95% CI 1.53 to 6.03, p = 0.0006) for African men and CHEK2 c.1312G>T OR 2.21 (95% CI 1.06 to 4.63, p = 0.030) for European men. No evidence of association with ovarian cancer was found for any of these variants. Conclusions: This report adds to accumulating evidence that at least some variants in these genes are associated with an increased risk of breast cancer that is clinically important.
Published: 2016

2. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

Author: Hollestelle, A. (Antoinette), Baan, F.H. (Frederieke) van der, Berchuck, A. (Andrew), Johnatty, S.E. (Sharon), Aben, K.K.H. (Katja), Agnarsson, B.A. (Bjarni), Aittomäki, K. (Kristiina), Alducci, E. (Elisa), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Antonenkova, N.N. (Natalia), Antoniou, A.C. (Antonis), Apicella, C. (Carmel), Arndt, V. (Volker), Arnold, N. (Norbert), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Ashworth, A. (Alan), Baglietto, L. (Laura), Balleine, R. (Rosemary), Bandera, E.V. (Elisa), Barrowdale, D. (Daniel), Bean, Y.T. (Yukie), Beckmann, L. (Lars), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Berger, A. (Andreas), Berger, R. (Raanan), Beuselinck, B. (B.), Bisogna, M. (Maria), Bjorge, L. (Line), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Bojesen, A. (Anders), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet), Bonnani, B. (Bernardo), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L.A. (Louise), Brooks-Wilson, A. (Angela), Bruinsma, F. (Fiona), Brunet, J. (Joan), Brüning, T. (Thomas), Budzilowska, A. (Agnieszka), Bunker, C.H. (Clareann H.), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Buys, S.S. (Saundra S.), Caligo, M.A. (Maria), Campbell, I. (Ian), Carter, J. (Jonathan), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen J.), Claes, K.B.M. (Kathleen B.M.), Collée, J.M. (Margriet), Cook, L.S. (Linda S.), Couch, F.J. (Fergus), Cox, A. (Angela), Cramer, D.W. (Daniel), Cross, S.S. (Simon), Cunningham, J.M. (Julie), Cybulski, C. (Cezary), Czene, K. (Kamila), Damiola, F. (Francesca), Dansonka-Mieszkowska, A. (Agnieszka), Darabi, H. (Hatef), Hoya, M. (Miguel) de La, DeFazio, A. (Anna), Dennis, J. (Joe), Devilee, P. (Peter), Dicks, E. (Ed), Díez, O. (Orland), Doherty, J.A. (Jennifer A.), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Dörk, T. (Thilo), Santos Silva, I. (Isabel) dos, Du Bois, A. (Andreas), Dumont, M. (Martine), Dunning, A.M. (Alison), Duran, M. (Mercedes), Easton, D.F. (Douglas F.), Eccles, D. (Diana), Edwards, R. (Robert), Ehrencrona, H. (Hans), Ejlertsen, B. (Bent), Ekici, A.B. (Arif), Ellis, S.D. (Steve), Engel, C. (Christoph), Eriksson, M. (Mikael), Fasching, P.A. (Peter), Feliubadaló, L. (L.), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Fontaine, A. (Annette), Fortuzzi, S. (S.), Fostira, F. (Florentia), Fridley, B.L. (Brooke), Friebel, M.O.W. (Mark ), Friedman, E. (Eitan), Friel, G. (Grace), Frost, D. (Debra), Garber, J. (Judy), García-Closas, M. (Montserrat), Gayther, S.A. (Simon), Gentry-Maharaj, A. (Aleksandra), Gerdes, A-M. (Anne-Marie), Giles, G.G. (Graham), Glasspool, R. (Rosalind), Glendon, G. (Gord), Godwin, A.K. (Andrew K.), Goodman, M.T. (Marc T.), Gore, M. (Martin), Greene, M.H. (Mark H.), Grip, M. (Mervi), Gronwald, J. (Jacek), Gschwantler-Kaulich, D. (Daphne), Guénel, P. (Pascal), Guzman, S.R. (Starr R.), Haeberle, L. (Lothar), Haiman, C.A. (Christopher A.), Hall, P. (Per), Halverson, S.L. (Sandra L.), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), Harter, P. (Philipp), Hartikainen, J.M. (J.), Healey, S. (Sue), Hein, R. (Rebecca), Heitz, P.U., Henderson, B.E. (Brian), Herzog, J. (Josef), Hildebrandt, M.A.T. (Michelle), Høgdall, C.K. (Claus), Høgdall, E. (Estrid), Hogervorst, F.B.L. (Frans), Hopper, J.L. (John), Humphreys, K. (Keith), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny N.), Isaacs, C. (Claudine), Jakubowska, A. (Anna), Janavicius, R. (Ramunas), Jaworska, K. (Katarzyna), Jensen, A. (Allan), Jensen, U.B., Johnson, N. (Nichola), Jukkola-Vuorinen, A. (Arja), Kabisch, M. (Maria), Karlan, B.Y. (Beth Y.), Kataja, V. (Vesa), Kauff, N. (Noah), Kelemen, L.E. (Linda), Kerin, M. (Michael), Kiemeney, L.A.L.M. (Bart), Kjaer, M. (Michael), Knight, J.A. (Julia), Knol-Bout, J.P. (Jacoba P.), Konstantopoulou, I. (I.), Kosma, V-M. (Veli-Matti), Krakstad, C. (Camilla), Kristensen, V. (Vessela), Kuchenbaecker, K.B. (Karoline), Kupryjanczyk, J. (Jolanta), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lambrechts, S. (Sandrina), Larson, M.C. (Melissa), Lasa, A. (Adriana), Laurent-Puig, P. (Pierre), Lázaro, C. (Conxi), Le, N. (Nhu), Le Marchand, L. (Loic), Leminen, A. (Arto), Lester, K.J. (Kathryn), Levine, D.A. (Douglas), Li, J. (Jingmei), Liang, D. (Dong), Lindblom, A. (Annika), Lindor, N.M. (Noralane), Lissowska, J. (Jolanta), Long, J. (Jirong), Lu, K.H. (Karen), Lubinski, J. (Jan), Lundvall, L. (Lene), Lurie, G. (Galina), Mai, P.L. (Phuong), Mannermaa, A. (Arto), Margolin, S. (Sara), Mariette, F. (F.), Marme, F. (Federick), Martens, J.W.M. (John), Massuger, L.F. (Leon), Maugard, C., Mazoyer, S. (Sylvie), McGuffog, L. (Lesley), McGuire, W.P., McLean, C.A. (Catriona Ann), McNeish, I. (Iain), Meindl, A. (Alfons), Menegaux, F. (Florence), Menéndez, P. (Primitiva), Menkiszak, J. (Janusz), Menon, U. (Usha), Mensenkamp, A.R. (Arjen), Miller, N. (Nicola), Milne, R.L. (Roger), Modugno, F. (Francesmary), Montagna, M. (Marco), Moysich, K.B. (Kirsten B.), Müller, H. (Heiko), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru), Narod, S.A. (Steven A.), Nathanson, K.L. (Katherine), Ness, R.B. (Roberta B.), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, F. (Finn), Nielsen, S.F. (Sune), Nordestgaard, B.G. (Børge), Nussbaum, R. (Robert), Odunsi, K. (Kunle), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olson, J.E. (Janet), Olson, S.H. (Sara), Oosterwijk, J.C. (Jan), Orlow, I. (Irene), Orr, N. (Nick), Orsulic, S. (Sandra), Osorio, A. (Ana), Ottini, L. (Laura), Paul, J. (James), Pearce, C.L. (Celeste), Pedersen, I.S. (Inge Sokilde), Peissel, B. (Bernard), Pejovic, T. (Tanja), Pelttari, L.M. (Liisa), Perkins, J. (Jo), Permuth-Wey, J. (Jenny), Peterlongo, P. (Paolo), Peto, J. (Julian), Phelan, C. (Catherine), Phillips, K.-A. (Kelly-Anne), Piedmonte, M. (Marion), Pike, M.C. (Malcolm C.), Platte, R. (Radka), Plisiecka-Halasa, J. (Joanna), Poole, E.M. (Elizabeth), Poppe, B. (Bruce), Pykäs, K. (Katri), Radice, P. (Paolo), Ramus, S.J. (Susan), Rebbeck, R. (Timothy), Reed, M.W.R. (Malcolm W.R.), Rennert, G. (Gad), Risch, H. (Harvey), Robson, M. (Mark), Rodriguez, G. (Gustavo), Romero, A. (Atocha), Rossing, M.A. (Mary Anne), Rothstein, J.H. (Joseph H.), Rudolph, A. (Anja), Runnebaum, I.B. (Ingo), Salani, R. (Ritu), Salvesen, H.B. (Helga), Sawyer, E.J. (Elinor), Schildkraut, J.M. (Joellen), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Schneeweiss, A. (Andreas), Schoemaker, M. (Minouk), Schrauder, A. (André), Schumacher, F.R. (Fredrick), Schwaab, I. (Ira), Scuvera, G. (Giulietta), Sellers, T.A. (Thomas A.), Severi, G. (Gianluca), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Shrubsole, M. (Martha), Siddiqui, N. (Nadeem), Sieh, W. (Weiva), Simard, J. (Jacques), Singer, C.F. (Christian), Sinilnikova, O. (Olga), Smeets, D. (Dominiek), Sohn, C. (Christof), Soller, M. (Maria), Song, H. (Honglin), Soucy, P. (Penny), Southey, M.C. (Melissa), Stegmaier, C. (Christa), Stoppa-Lyonnet, D. (Dominique), Sucheston, L. (Lara), Swerdlow, A.J. (Anthony ), Tangen, I.L. (Ingvild L.), Tea, M.-K., Teixeira, P.J., Terry, K.L. (Kathryn), Terry, M.B. (Mary Beth), Thomassen, M. (Mads), Thompson, P.J. (Pamela J.), Tihomirova, L. (Laima), Tischkowitz, M. (Marc), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Tsimiklis, H. (Helen), Tung, N. (Nadine), Tworoger, S. (Shelley), Tyrer, J.P. (Jonathan), Vachon, C. (Celine), Veer, L.J. (Laura) van 't, Altena, A.M. (Anne) van, Asperen, C.J. (Christi) van, Van Den Berg, D. (David), Ouweland, A.M.W. (Ans) van den, Doorn, H.C. (Lena) van, Van Nieuwenhuysen, E. (Els), Rensburg, E.J. (Elizabeth) van, Vergote, I. (Ignace), Verhoef, S., Vierkant, R.A. (Robert), Vijai, J. (Joseph), Vitonis, A.F. (Allison), Wachenfeldt, A. (Anna) von, Walsh, C.S. (Christine), Wang, Q. (Qing), Wang-Gohrke, S. (Shan), Wapenschmidt, B. (Barbara), Weischer, M. (Maren), Weitzel, J.N. (Jeffrey), Weltens, C. (Caroline), Wentzensen, N. (N.), Whittemore, A.S. (Alice S.), Wilkens, L.R. (Lynne R.), Winqvist, R. (Robert), Wu, A.H. (Anna), Wu, X. (Xifeng), Yang, H.P. (Hannah P.), Zaffaroni, D. (Daniela), Zamora, M.P. (Pilar), Zheng, W. (Wei), Ziogas, A. (Argyrios), Chenevix-Trench, G. (Georgia), Pharoah, P.D.P. (Paul), Rookus, M.A. (Matti), Hooning, M.J. (Maartje), Goode, E.L. (Ellen L.), Breast Cancer Family Register, EMBRACE, GENICA Network, HEBON, SWE-BRCA, Hollestelle, A. (Antoinette), Baan, F.H. (Frederieke) van der, Berchuck, A. (Andrew), Johnatty, S.E. (Sharon), Aben, K.K.H. (Katja), Agnarsson, B.A. (Bjarni), Aittomäki, K. (Kristiina), Alducci, E. (Elisa), Andrulis, I.L. (Irene), Anton-Culver, H. (Hoda), Antonenkova, N.N. (Natalia), Antoniou, A.C. (Antonis), Apicella, C. (Carmel), Arndt, V. (Volker), Arnold, N. (Norbert), Arun, B.K. (Banu), Arver, B. (Brita Wasteson), Ashworth, A. (Alan), Baglietto, L. (Laura), Balleine, R. (Rosemary), Bandera, E.V. (Elisa), Barrowdale, D. (Daniel), Bean, Y.T. (Yukie), Beckmann, L. (Lars), Beckmann, M.W. (Matthias), Benítez, J. (Javier), Berger, A. (Andreas), Berger, R. (Raanan), Beuselinck, B. (B.), Bisogna, M. (Maria), Bjorge, L. (Line), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Bojesen, A. (Anders), Bojesen, S.E. (Stig), Bolla, M.K. (Manjeet), Bonnani, B. (Bernardo), Brand, J.S. (Judith S.), Brauch, H. (Hiltrud), Brenner, H. (Hermann), Brinton, L.A. (Louise), Brooks-Wilson, A. (Angela), Bruinsma, F. (Fiona), Brunet, J. (Joan), Brüning, T. (Thomas), Budzilowska, A. (Agnieszka), Bunker, C.H. (Clareann H.), Burwinkel, B. (Barbara), Butzow, R. (Ralf), Buys, S.S. (Saundra S.), Caligo, M.A. (Maria), Campbell, I. (Ian), Carter, J. (Jonathan), Chang-Claude, J. (Jenny), Chanock, S.J. (Stephen J.), Claes, K.B.M. (Kathleen B.M.), Collée, J.M. (Margriet), Cook, L.S. (Linda S.), Couch, F.J. (Fergus), Cox, A. (Angela), Cramer, D.W. (Daniel), Cross, S.S. (Simon), Cunningham, J.M. (Julie), Cybulski, C. (Cezary), Czene, K. (Kamila), Damiola, F. (Francesca), Dansonka-Mieszkowska, A. (Agnieszka), Darabi, H. (Hatef), Hoya, M. (Miguel) de La, DeFazio, A. (Anna), Dennis, J. (Joe), Devilee, P. (Peter), Dicks, E. (Ed), Díez, O. (Orland), Doherty, J.A. (Jennifer A.), Domchek, S.M. (Susan), Dorfling, C.M. (Cecilia), Dörk, T. (Thilo), Santos Silva, I. (Isabel) dos, Du Bois, A. (Andreas), Dumont, M. (Martine), Dunning, A.M. (Alison), Duran, M. (Mercedes), Easton, D.F. (Douglas F.), Eccles, D. (Diana), Edwards, R. (Robert), Ehrencrona, H. (Hans), Ejlertsen, B. (Bent), Ekici, A.B. (Arif), Ellis, S.D. (Steve), Engel, C. (Christoph), Eriksson, M. (Mikael), Fasching, P.A. (Peter), Feliubadaló, L. (L.), Figueroa, J.D. (Jonine), Flesch-Janys, D. (Dieter), Fletcher, O. (Olivia), Fontaine, A. (Annette), Fortuzzi, S. (S.), Fostira, F. (Florentia), Fridley, B.L. (Brooke), Friebel, M.O.W. (Mark ), Friedman, E. (Eitan), Friel, G. (Grace), Frost, D. (Debra), Garber, J. (Judy), García-Closas, M. (Montserrat), Gayther, S.A. (Simon), Gentry-Maharaj, A. (Aleksandra), Gerdes, A-M. (Anne-Marie), Giles, G.G. (Graham), Glasspool, R. (Rosalind), Glendon, G. (Gord), Godwin, A.K. (Andrew K.), Goodman, M.T. (Marc T.), Gore, M. (Martin), Greene, M.H. (Mark H.), Grip, M. (Mervi), Gronwald, J. (Jacek), Gschwantler-Kaulich, D. (Daphne), Guénel, P. (Pascal), Guzman, S.R. (Starr R.), Haeberle, L. (Lothar), Haiman, C.A. (Christopher A.), Hall, P. (Per), Halverson, S.L. (Sandra L.), Hamann, U. (Ute), Hansen, T.V.O. (Thomas), Harter, P. (Philipp), Hartikainen, J.M. (J.), Healey, S. (Sue), Hein, R. (Rebecca), Heitz, P.U., Henderson, B.E. (Brian), Herzog, J. (Josef), Hildebrandt, M.A.T. (Michelle), Høgdall, C.K. (Claus), Høgdall, E. (Estrid), Hogervorst, F.B.L. (Frans), Hopper, J.L. (John), Humphreys, K. (Keith), Huzarski, T. (Tomasz), Imyanitov, E.N. (Evgeny N.), Isaacs, C. (Claudine), Jakubowska, A. (Anna), Janavicius, R. (Ramunas), Jaworska, K. (Katarzyna), Jensen, A. (Allan), Jensen, U.B., Johnson, N. (Nichola), Jukkola-Vuorinen, A. (Arja), Kabisch, M. (Maria), Karlan, B.Y. (Beth Y.), Kataja, V. (Vesa), Kauff, N. (Noah), Kelemen, L.E. (Linda), Kerin, M. (Michael), Kiemeney, L.A.L.M. (Bart), Kjaer, M. (Michael), Knight, J.A. (Julia), Knol-Bout, J.P. (Jacoba P.), Konstantopoulou, I. (I.), Kosma, V-M. (Veli-Matti), Krakstad, C. (Camilla), Kristensen, V. (Vessela), Kuchenbaecker, K.B. (Karoline), Kupryjanczyk, J. (Jolanta), Laitman, Y. (Yael), Lambrechts, D. (Diether), Lambrechts, S. (Sandrina), Larson, M.C. (Melissa), Lasa, A. (Adriana), Laurent-Puig, P. (Pierre), Lázaro, C. (Conxi), Le, N. (Nhu), Le Marchand, L. (Loic), Leminen, A. (Arto), Lester, K.J. (Kathryn), Levine, D.A. (Douglas), Li, J. (Jingmei), Liang, D. (Dong), Lindblom, A. (Annika), Lindor, N.M. (Noralane), Lissowska, J. (Jolanta), Long, J. (Jirong), Lu, K.H. (Karen), Lubinski, J. (Jan), Lundvall, L. (Lene), Lurie, G. (Galina), Mai, P.L. (Phuong), Mannermaa, A. (Arto), Margolin, S. (Sara), Mariette, F. (F.), Marme, F. (Federick), Martens, J.W.M. (John), Massuger, L.F. (Leon), Maugard, C., Mazoyer, S. (Sylvie), McGuffog, L. (Lesley), McGuire, W.P., McLean, C.A. (Catriona Ann), McNeish, I. (Iain), Meindl, A. (Alfons), Menegaux, F. (Florence), Menéndez, P. (Primitiva), Menkiszak, J. (Janusz), Menon, U. (Usha), Mensenkamp, A.R. (Arjen), Miller, N. (Nicola), Milne, R.L. (Roger), Modugno, F. (Francesmary), Montagna, M. (Marco), Moysich, K.B. (Kirsten B.), Müller, H. (Heiko), Mulligan, A.-M. (Anna-Marie), Muranen, T.A. (Taru), Narod, S.A. (Steven A.), Nathanson, K.L. (Katherine), Ness, R.B. (Roberta B.), Neuhausen, S.L. (Susan), Nevanlinna, H. (Heli), Neven, P. (Patrick), Nielsen, F. (Finn), Nielsen, S.F. (Sune), Nordestgaard, B.G. (Børge), Nussbaum, R. (Robert), Odunsi, K. (Kunle), Offit, K. (Kenneth), Olah, E., Olopade, O.I. (Olufunmilayo I.), Olson, J.E. (Janet), Olson, S.H. (Sara), Oosterwijk, J.C. (Jan), Orlow, I. (Irene), Orr, N. (Nick), Orsulic, S. (Sandra), Osorio, A. (Ana), Ottini, L. (Laura), Paul, J. (James), Pearce, C.L. (Celeste), Pedersen, I.S. (Inge Sokilde), Peissel, B. (Bernard), Pejovic, T. (Tanja), Pelttari, L.M. (Liisa), Perkins, J. (Jo), Permuth-Wey, J. (Jenny), Peterlongo, P. (Paolo), Peto, J. (Julian), Phelan, C. (Catherine), Phillips, K.-A. (Kelly-Anne), Piedmonte, M. (Marion), Pike, M.C. (Malcolm C.), Platte, R. (Radka), Plisiecka-Halasa, J. (Joanna), Poole, E.M. (Elizabeth), Poppe, B. (Bruce), Pykäs, K. (Katri), Radice, P. (Paolo), Ramus, S.J. (Susan), Rebbeck, R. (Timothy), Reed, M.W.R. (Malcolm W.R.), Rennert, G. (Gad), Risch, H. (Harvey), Robson, M. (Mark), Rodriguez, G. (Gustavo), Romero, A. (Atocha), Rossing, M.A. (Mary Anne), Rothstein, J.H. (Joseph H.), Rudolph, A. (Anja), Runnebaum, I.B. (Ingo), Salani, R. (Ritu), Salvesen, H.B. (Helga), Sawyer, E.J. (Elinor), Schildkraut, J.M. (Joellen), Schmidt, M.K. (Marjanka), Schmutzler, R.K. (Rita), Schneeweiss, A. (Andreas), Schoemaker, M. (Minouk), Schrauder, A. (André), Schumacher, F.R. (Fredrick), Schwaab, I. (Ira), Scuvera, G. (Giulietta), Sellers, T.A. (Thomas A.), Severi, G. (Gianluca), Seynaeve, C.M. (Caroline), Shah, M. (Mitul), Shrubsole, M. (Martha), Siddiqui, N. (Nadeem), Sieh, W. (Weiva), Simard, J. (Jacques), Singer, C.F. (Christian), Sinilnikova, O. (Olga), Smeets, D. (Dominiek), Sohn, C. (Christof), Soller, M. (Maria), Song, H. (Honglin), Soucy, P. (Penny), Southey, M.C. (Melissa), Stegmaier, C. (Christa), Stoppa-Lyonnet, D. (Dominique), Sucheston, L. (Lara), Swerdlow, A.J. (Anthony ), Tangen, I.L. (Ingvild L.), Tea, M.-K., Teixeira, P.J., Terry, K.L. (Kathryn), Terry, M.B. (Mary Beth), Thomassen, M. (Mads), Thompson, P.J. (Pamela J.), Tihomirova, L. (Laima), Tischkowitz, M. (Marc), Toland, A.E. (Amanda), Tollenaar, R.A.E.M. (Rob), Tomlinson, I. (Ian), Torres, D. (Diana), Truong, T. (Thérèse), Tsimiklis, H. (Helen), Tung, N. (Nadine), Tworoger, S. (Shelley), Tyrer, J.P. (Jonathan), Vachon, C. (Celine), Veer, L.J. (Laura) van 't, Altena, A.M. (Anne) van, Asperen, C.J. (Christi) van, Van Den Berg, D. (David), Ouweland, A.M.W. (Ans) van den, Doorn, H.C. (Lena) van, Van Nieuwenhuysen, E. (Els), Rensburg, E.J. (Elizabeth) van, Vergote, I. (Ignace), Verhoef, S., Vierkant, R.A. (Robert), Vijai, J. (Joseph), Vitonis, A.F. (Allison), Wachenfeldt, A. (Anna) von, Walsh, C.S. (Christine), Wang, Q. (Qing), Wang-Gohrke, S. (Shan), Wapenschmidt, B. (Barbara), Weischer, M. (Maren), Weitzel, J.N. (Jeffrey), Weltens, C. (Caroline), Wentzensen, N. (N.), Whittemore, A.S. (Alice S.), Wilkens, L.R. (Lynne R.), Winqvist, R. (Robert), Wu, A.H. (Anna), Wu, X. (Xifeng), Yang, H.P. (Hannah P.), Zaffaroni, D. (Daniela), Zamora, M.P. (Pilar), Zheng, W. (Wei), Ziogas, A. (Argyrios), Chenevix-Trench, G. (Georgia), Pharoah, P.D.P. (Paul), Rookus, M.A. (Matti), Hooning, M.J. (Maartje), Goode, E.L. (Ellen L.), Breast Cancer Family Register, EMBRACE, GENICA Network, HEBON, and SWE-BRCA
Abstract: Objective Clinical genetic testing is commercially available for rs61764370, an inherited variant residing in a KRAS 3′ UTR microRNA binding site, based on suggested associations with increased ovarian and br
Published: 2016
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3. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1

Author: Glubb, D.M. (Dylan), Maranian, M. (Melanie), Michailidou, K. (Kyriaki), Pooley, K.A. (Karen), Meyer, K.B. (Kerstin), Kar, S. (Siddhartha), Carlebur, A.F.C., O'Reilly, M. (Marian), Betts, J.A. (Joshua), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Beesley, J. (Jonathan), Canisius, S. (Sander), Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Schoot, C.E. (Ellen) van der, Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Fasching, P.A. (Peter), Ruebner, M. (Matthias), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Pharoah, P.D.P. (Paul D.P.), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Burwinkel, B. (Barbara), Marme, F. (Federick), Yang, R. (Rongxi), Surowy, H. (Harald), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Ko, Y.-D. (Yon-Dschun), Brüning, T. (Thomas), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Tanaka, H. (Hideo), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Lambrechts, D. (Diether), Zhao, H. (Hui), Weltens, C. (Caroline), Limbergen, E. (Erik) van, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Seibold, P. (Petra), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Capra, F. (Fabio), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), See, M.-H. (Mee-Hoong), Cornes, B.K. (Belinda), Cheng, C-Y. (Ching-Yu), Ikram, M.K. (Kamran), Kristensen, V. (Vessela), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Czene, K. (Kamila), Klevebring, D. (Daniel), Darabi, H. (Hatef), Eriksson, M. (Mikael), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Hall, P. (Per), Li, J. (Jingmei), Humphreys, K. (Keith), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y.-T. (Yu-Tang), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Shah, M. (Mitul), Ghoussaini, M. (Maya), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Hartman, M. (Mikael), Miao, X., Lim, W.-Y. (Wei-Yen), Tang, A. (Anthony), Hamann, U. (Ute), Torres, D. (Diana), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Olswold, C. (Curtis), Slager, S. (Susan), Toland, A.E. (Amanda), Yannoukakos, D. (Drakoulis), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Hou, M.-F. (Ming-Feng), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Brown, M. (Melissa), Ponder, B.A.J. (Bruce A.J.), Chenevix-Trench, G. (Georgia), Thompson, D. (Deborah), Edwards, S.L. (Stacey), Easton, D.F. (Douglas), Dunning, A.M. (Alison), French, J.D. (Juliet), Glubb, D.M. (Dylan), Maranian, M. (Melanie), Michailidou, K. (Kyriaki), Pooley, K.A. (Karen), Meyer, K.B. (Kerstin), Kar, S. (Siddhartha), Carlebur, A.F.C., O'Reilly, M. (Marian), Betts, J.A. (Joshua), Hillman, K.M. (Kristine), Kaufmann, S. (Susanne), Beesley, J. (Jonathan), Canisius, S. (Sander), Hopper, J.L. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Schoot, C.E. (Ellen) van der, Muir, K.R. (K.), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Fasching, P.A. (Peter), Ruebner, M. (Matthias), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Peto, J. (Julian), Santos Silva, I. (Isabel) dos, Fletcher, O. (Olivia), Johnson, N. (Nichola), Pharoah, P.D.P. (Paul D.P.), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Dennis, J. (Joe), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Burwinkel, B. (Barbara), Marme, F. (Federick), Yang, R. (Rongxi), Surowy, H. (Harald), Guénel, P. (Pascal), Truong, T. (Thérèse), Menegaux, F. (Florence), Sanchez, M. (Marie), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Nielsen, S.F. (Sune), Flyger, H. (Henrik), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Arias Pérez, J.I. (José Ignacio), Anton-Culver, H. (Hoda), Neuhausen, S.L. (Susan), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Ko, Y.-D. (Yon-Dschun), Brüning, T. (Thomas), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hisato), Tanaka, H. (Hideo), Dörk, T. (Thilo), Bogdanova, N.V. (Natalia), Helbig, S. (Sonja), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Wu, A.H. (Anna H.), Tseng, C.-C. (Chiu-Chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), Lambrechts, D. (Diether), Zhao, H. (Hui), Weltens, C. (Caroline), Limbergen, E. (Erik) van, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Seibold, P. (Petra), Radice, P. (Paolo), Peterlongo, P. (Paolo), Barile, M. (Monica), Capra, F. (Fabio), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Giles, G.G. (Graham), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Haiman, C.A. (Christopher), Henderson, B.E. (Brian), Schumacher, F.R. (Fredrick), Le Marchand, L. (Loic), Simard, J. (Jacques), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Teo, S.-H. (Soo-Hwang), Yip, C.H. (Cheng Har), See, M.-H. (Mee-Hoong), Cornes, B.K. (Belinda), Cheng, C-Y. (Ching-Yu), Ikram, M.K. (Kamran), Kristensen, V. (Vessela), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Kauppila, S. (Saila), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Tchatchou, S. (Sandrine), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, García-Closas, M. (Montserrat), Figueroa, J.D. (Jonine), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Czene, K. (Kamila), Klevebring, D. (Daniel), Darabi, H. (Hatef), Eriksson, M. (Mikael), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John W. M.), Collée, J.M. (Margriet), Hall, P. (Per), Li, J. (Jingmei), Humphreys, K. (Keith), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y.-T. (Yu-Tang), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Shah, M. (Mitul), Ghoussaini, M. (Maya), Kang, D. (Daehee), Choi, J.-Y. (J.), Park, S.K. (Sue), Noh, D-Y. (Dong-Young), Hartman, M. (Mikael), Miao, X., Lim, W.-Y. (Wei-Yen), Tang, A. (Anthony), Hamann, U. (Ute), Torres, D. (Diana), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Olswold, C. (Curtis), Slager, S. (Susan), Toland, A.E. (Amanda), Yannoukakos, D. (Drakoulis), Shen, C-Y. (Chen-Yang), Wu, P.-E. (Pei-Ei), Yu, J-C. (Jyh-Cherng), Hou, M.-F. (Ming-Feng), Swerdlow, A.J. (Anthony ), Ashworth, A. (Alan), Orr, N. (Nick), Jones, M. (Michael), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Brown, M. (Melissa), Ponder, B.A.J. (Bruce A.J.), Chenevix-Trench, G. (Georgia), Thompson, D. (Deborah), Edwards, S.L. (Stacey), Easton, D.F. (Douglas), Dunning, A.M. (Alison), and French, J.D. (Juliet)
Abstract: Genome-wide association studies (GWASs) have revealed SNP rs889312 on 5q11.2 to be associated with breast cancer risk in women of European ancestry. In an attempt to identify the biologically relevant variants, we analyzed 909 genetic variants across 5q11.2 in 103,991 breast cancer individuals and control individuals from 52 studies in the Breast Cancer Association Consortium. Multiple logistic regression analyses identified three independent risk signals: the strongest associations were with 15 correlated variants (iCHAV1), where the minor allele of the best candidate, rs62355902, associated with significantly increased risks of both estrogen-receptor-positive (ER+: odds ratio [OR] = 1.24, 95% confidence interval [CI] = 1.21-1.27, ptrend = 5.7 × 10-44) and estrogen-receptor-negative (ER-: OR = 1.10, 95% CI = 1.05-1.15, ptrend = 3.0 × 10-4) tumors. After adjustment for rs62355902, we found evidence of association of a further 173 variants (iCHAV2) containing three subsets with a range of effects (the strongest was rs113317823 [pcond = 1.61 × 10-5]) and five variants composing iCHAV3 (lead rs11949391; ER+: OR = 0.90, 95% CI = 0.87-0.93, pcond = 1.4 × 10-4). Twenty-six percent of the prioritized candidate variants coincided with four putative regulatory elements that interact with the MAP3K1 promoter through chromatin looping and affect MAP3K1 promoter activity. Functional analysis indicated that the cancer risk alleles of four candidates (rs74345699 and rs62355900 [iCHAV1], rs16886397 [iCHAV2a], and rs17432750 [iCHAV3]) increased MAP3K1 transcriptional activity. Chromatin immunoprecipitation analysis revealed diminished GATA3 binding to the minor (cancer-protective) allele of rs17432750, indicating a mechanism for its action. We propose that the cancer risk alleles act to increase MAP3K1 expression in vivo and might promote breast cancer cell survival.
Published: 2015
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4. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

Author: Michailidou, K. (Kyriaki), Beesley, J. (Jonathan), Lindstrom, S. (Stephen), Canisius, S. (Sander), Dennis, J. (Joe), Lush, M. (Michael), Maranian, M. (Melanie), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Shah, M. (Mitul), Perkins, B. (Barbara), Czene, K. (Kamila), Eriksson, M. (Mikael), Darabi, H. (Hatef), Brand, J.S. (Judith S.), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Nielsen, S.F. (Sune), Rahman, N. (Nazneen), Turnbull, C. (Clare), Fletcher, O. (Olivia), Peto, J. (Julian), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Eilber, U. (Ursula), Behrens, T.W. (Timothy), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Khan, S. (Sofia), Aaltonen, K. (Kirsimari), Ahsan, H. (Habibul), Kibriya, M.G. (Muhammad), Whittemore, A.S. (Alice S.), John, E.M. (Esther M.), Malone, K.E. (Kathleen E.), Gammon, M.D. (Marilie), Santella, R.M. (Regina M.), Ursin, G. (Giske), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Casey, G. (Graham), Hunter, D.J. (David J.), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Diver, W.R. (Ryan), Haiman, C.A. (Christopher A.), Schumacher, F.R. (Fredrick), Henderson, B.E. (Brian), Le Marchand, L. (Loic), Berg, C.D. (Christine), Chanock, S.J. (Stephen), Figueroa, J.D. (Jonine), Hoover, R.N. (Robert N.), Lambrechts, D. (Diether), Neven, P. (Patrick), Wildiers, H. (Hans), Limbergen, E. (Erik) van, Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Verhoef, S., Cornelissen, S. (Sten), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (Ji-Yeob), Park, S.K. (Sue K.), Yoo, K.Y., Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hiroji), Tajima, K. (Kazuo), Guénel, P. (Pascal), Truong, T. (Thérèse), Mulot, C. (Claire), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Surowy, H. (Harald), Sohn, C. (Christof), Wu, A.H. (Anna H), Tseng, C.-C. (Chiu-chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.H. (Soo Hwang), Yip, C.H. (Cheng Har), Taib, N.A.M. (Nur Aishah Mohd), Tan, G.-H. (Gie-Hooi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Collée, J.M. (Margriet), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Hopper, J. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Shen, C-Y. (Chen-Yang), Hsiung, C.-N. (Chia-Ni), Wu, P.-E. (Pei-Ei), Hou, M.-F. (Ming-Feng), Kristensen, V. (Vessela), Nord, S. (Silje), Alnæs, G.G. (Grethe), Giles, G.G. (Graham G.), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Canzian, F. (Federico), Trichopoulos, D. (Dimitrios), Peeters, P.H.M., Lund, E. (Eiliv), Sund, R. (Reijo), Khaw, K.T., Gunter, M.J. (Marc J.), Palli, D. (Domenico), Mortensen, L.M. (Lotte Maxild), Dossus, L. (Laure), Huerta, J.-M. (Jose-Maria), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Sutter, C. (Christian), Yang, R. (Rongxi), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, J.M. (Joost), Miao, X., Chia, K.S. (Kee Seng), Chan, C.W. (Ching Wan), Fasching, P.A. (Peter), Hein, R. (Rebecca), Beckmann, M.W. (Matthias), Haeberle, L. (Lothar), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), Brinton, L.A. (Louise), García-Closas, M. (Montserrat), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Brauch, H. (Hiltrud), Hamann, U. (Ute), Brüning, T. (Thomas), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Bernard, L. (Loris), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Kabisch, M. (Maria), Torres, D. (Diana), Neuhausen, S.L. (Susan), Anton-Culver, H. (Hoda), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Simard, J. (Jacques), Pharoah, P.P.D.P. (Paul P.D.P.), Kraft, P. (Peter), Dunning, A.M. (Alison), Chenevix-Trench, G. (Georgia), Hall, P. (Per), Easton, D.F. (Douglas), Michailidou, K. (Kyriaki), Beesley, J. (Jonathan), Lindstrom, S. (Stephen), Canisius, S. (Sander), Dennis, J. (Joe), Lush, M. (Michael), Maranian, M. (Melanie), Bolla, M.K. (Manjeet), Wang, Q. (Qing), Shah, M. (Mitul), Perkins, B. (Barbara), Czene, K. (Kamila), Eriksson, M. (Mikael), Darabi, H. (Hatef), Brand, J.S. (Judith S.), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Nielsen, S.F. (Sune), Rahman, N. (Nazneen), Turnbull, C. (Clare), Fletcher, O. (Olivia), Peto, J. (Julian), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Chang-Claude, J. (Jenny), Flesch-Janys, D. (Dieter), Rudolph, A. (Anja), Eilber, U. (Ursula), Behrens, T.W. (Timothy), Nevanlinna, H. (Heli), Muranen, T.A. (Taru), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Khan, S. (Sofia), Aaltonen, K. (Kirsimari), Ahsan, H. (Habibul), Kibriya, M.G. (Muhammad), Whittemore, A.S. (Alice S.), John, E.M. (Esther M.), Malone, K.E. (Kathleen E.), Gammon, M.D. (Marilie), Santella, R.M. (Regina M.), Ursin, G. (Giske), Makalic, E. (Enes), Schmidt, D.F. (Daniel), Casey, G. (Graham), Hunter, D.J. (David J.), Gapstur, S.M. (Susan M.), Gaudet, M.M. (Mia), Diver, W.R. (Ryan), Haiman, C.A. (Christopher A.), Schumacher, F.R. (Fredrick), Henderson, B.E. (Brian), Le Marchand, L. (Loic), Berg, C.D. (Christine), Chanock, S.J. (Stephen), Figueroa, J.D. (Jonine), Hoover, R.N. (Robert N.), Lambrechts, D. (Diether), Neven, P. (Patrick), Wildiers, H. (Hans), Limbergen, E. (Erik) van, Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Verhoef, S., Cornelissen, S. (Sten), Couch, F.J. (Fergus), Olson, J.E. (Janet), Hallberg, B. (Boubou), Vachon, C. (Celine), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Adank, M.A. (Muriel), Luijt, R.B. (Rob) van der, Li, J. (Jingmei), Liu, J. (Jianjun), Humphreys, M.K. (Manjeet), Kang, D. (Daehee), Choi, J.-Y. (Ji-Yeob), Park, S.K. (Sue K.), Yoo, K.Y., Matsuo, K. (Keitaro), Ito, H. (Hidemi), Iwata, H. (Hiroji), Tajima, K. (Kazuo), Guénel, P. (Pascal), Truong, T. (Thérèse), Mulot, C. (Claire), Sanchez, M. (Marie), Burwinkel, B. (Barbara), Marme, F. (Federick), Surowy, H. (Harald), Sohn, C. (Christof), Wu, A.H. (Anna H), Tseng, C.-C. (Chiu-chen), Van Den Berg, D. (David), Stram, D.O. (Daniel O.), González-Neira, A. (Anna), Benítez, J. (Javier), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Shu, X.-O. (Xiao-Ou), Lu, W. (Wei), Gao, Y. (Ying), Cai, H. (Hui), Cox, A. (Angela), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.-M. (Anna-Marie), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Lindblom, A. (Annika), Margolin, S. (Sara), Teo, S.H. (Soo Hwang), Yip, C.H. (Cheng Har), Taib, N.A.M. (Nur Aishah Mohd), Tan, G.-H. (Gie-Hooi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Martens, J.W.M. (John), Collée, J.M. (Margriet), Blot, W.J. (William), Signorello, L.B. (Lisa B.), Cai, Q. (Qiuyin), Hopper, J. (John), Southey, M.C. (Melissa), Tsimiklis, H. (Helen), Apicella, C. (Carmel), Shen, C-Y. (Chen-Yang), Hsiung, C.-N. (Chia-Ni), Wu, P.-E. (Pei-Ei), Hou, M.-F. (Ming-Feng), Kristensen, V. (Vessela), Nord, S. (Silje), Alnæs, G.G. (Grethe), Giles, G.G. (Graham G.), Milne, R.L. (Roger), McLean, C.A. (Catriona Ann), Canzian, F. (Federico), Trichopoulos, D. (Dimitrios), Peeters, P.H.M., Lund, E. (Eiliv), Sund, R. (Reijo), Khaw, K.T., Gunter, M.J. (Marc J.), Palli, D. (Domenico), Mortensen, L.M. (Lotte Maxild), Dossus, L. (Laure), Huerta, J.-M. (Jose-Maria), Meindl, A. (Alfons), Schmutzler, R.K. (Rita), Sutter, C. (Christian), Yang, R. (Rongxi), Muir, K. (Kenneth), Lophatananon, A. (Artitaya), Stewart-Brown, S. (Sarah), Siriwanarangsan, P. (Pornthep), Hartman, J.M. (Joost), Miao, X., Chia, K.S. (Kee Seng), Chan, C.W. (Ching Wan), Fasching, P.A. (Peter), Hein, R. (Rebecca), Beckmann, M.W. (Matthias), Haeberle, L. (Lothar), Brenner, H. (Hermann), Dieffenbach, A.K. (Aida Karina), Arndt, V. (Volker), Stegmaier, C. (Christa), Ashworth, A. (Alan), Orr, N. (Nick), Schoemaker, M. (Minouk), Swerdlow, A.J. (Anthony ), Brinton, L.A. (Louise), García-Closas, M. (Montserrat), Zheng, W. (Wei), Halverson, S.L. (Sandra L.), Shrubsole, M. (Martha), Long, J. (Jirong), Goldberg, M.S. (Mark), Labrèche, F. (France), Dumont, M. (Martine), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Brauch, H. (Hiltrud), Hamann, U. (Ute), Brüning, T. (Thomas), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Bernard, L. (Loris), Bogdanova, N.V. (Natalia), Dörk, T. (Thilo), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J.M. (J.), Devilee, P. (Peter), Tollenaar, R.A.E.M. (Rob), Seynaeve, C.M. (Caroline), Asperen, C.J. (Christi) van, Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Slager, S. (Susan), Toland, A.E. (Amanda), Ambrosone, C.B. (Christine), Yannoukakos, D. (Drakoulis), Kabisch, M. (Maria), Torres, D. (Diana), Neuhausen, S.L. (Susan), Anton-Culver, H. (Hoda), Luccarini, C. (Craig), Baynes, C. (Caroline), Ahmed, S. (Shahana), Healey, S. (Sue), Tessier, D.C. (Daniel C.), Vincent, D. (Daniel), Bacot, F. (Francois), Pita, G. (Guillermo), Alonso, M.R. (Rosario), Álvarez, N. (Nuria), Herrero, D. (Daniel), Simard, J. (Jacques), Pharoah, P.P.D.P. (Paul P.D.P.), Kraft, P. (Peter), Dunning, A.M. (Alison), Chenevix-Trench, G. (Georgia), Hall, P. (Per), and Easton, D.F. (Douglas)
Abstract: Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 × 10 â '8. Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.
Published: 2015
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5. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

Author: Couch, F.J. (Fergus), McGuffog, L. (Lesley), Lee, A. (Andrew), Olswold, C. (Curtis), Kuchenbaecker, K.B. (Karoline), Soucy, P. (Penny), Fredericksen, Z. (Zachary), Barrowdale, D. (Daniel), Dennis, J. (Joe), Gaudet, M.M. (Mia), Dicks, E. (Ed), Kosel, M. (Matthew), Healey, S. (Sue), Sinilnikova, O. (Olga), Bacot, F. (Francois), Vincent, D. (Daniel), Hogervorst, F.B.L. (Frans), Peock, S. (Susan), Stoppa-Lyonnet, D. (Dominique), Jakubowska, A. (Anna), Radice, P. (Paolo), Schmutzler, R.K. (Rita), Domchek, S.M. (Susan), Piedmonte, M. (Marion), Singer, C.F. (Christian), Friedman, E. (Eitan), Thomassen, M. (Mads), Hansen, T.V.O. (Thomas), Neuhausen, S.L. (Susan), Szabo, C. (Csilla), Blanco, I. (Ignacio), Greene, M.H. (Mark), Karlan, B.Y. (Beth), Garber, J., Phelan, C. (Catherine), Weitzel, J.N. (Jeffrey), Montagna, M. (Marco), Olah, E., Andrulis, I.L. (Irene), Godwin, A.K. (Andrew), Yannoukakos, D. (Drakoulis), Goldgar, D. (David), Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Osorio, A. (Ana), Terry, M.-B. (Mary-Beth), Daly, M.B. (Mary), Rensburg, E.J. (Elizabeth) van, Hamann, U. (Ute), Ramus, S.J. (Susan), Ewart-Toland, A. (Amanda), Caligo, M.A. (Maria), Olopade, O.I. (Olofunmilayo), Tung, N. (Nadine), Claes, K. (Kathleen), Beattie, M.S. (Mary), Southey, M.C. (Melissa), Imyanitov, E.N. (Evgeny), Tischkowitz, M. (Marc), Janavicius, R. (Ramunas), John, E.M. (Esther), Kwong, A. (Ava), Diez, O. (Orland), Balmana, J. (Judith), Barkardottir, R.B. (Rosa), Arun, B.K. (Banu), Rennert, G. (Gad), Teo, S.-H. (Soo-Hwang), Ganz, P.A. (Patricia), Campbell, I. (Ian), Hout, A.H. (Annemarie) van der, Deurzen, C.H.M. (Carolien) van, Seynaeve, C.M. (Caroline), Gómez García, E.B. (Encarna), Leeuwen, F.E. (Flora) van, Meijers-Heijboer, H. (Hanne), Gille, J.J. (Johan), Ausems, M.G.E.M. (Margreet), Blok, M.J. (Marinus), Ligtenberg, M.J. (Marjolijn), Rookus, M.A. (Matti), Devilee, P. (Peter), Verhoef, S., Os, T.A.M. (Theo) van, Wijnen, J.T. (Juul), Frost, D. (Debra), Ellis, S. (Steve), Fineberg, E. (Elena), Platte, R. (Radka), Evans, D.G. (Gareth), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Eccles, D. (Diana), Cook, J. (Jackie), Brewer, C. (C.), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Morrison, P.J. (Patrick), Side, L. (Lucy), Donaldson, A. (Alan), Houghton, C. (Catherine), Rogers, M.T. (Mark), Dorkins, H. (Huw), Eason, J. (Jacqueline), Gregory, H. (Helen), McCann, E. (Emma), Murray, A. (Alexandra), Calender, A. (Alain), Hardouin, A. (Agnès), Berthet, P. (Pascaline), Delnatte, C.D. (Capucine), Nogues, C. (Catherine), Lasset, C. (Christine), Houdayer, C. (Claude), Leroux, D. (Dominique), Rouleau, E. (Etienne), Prieur, F. (Fabienne), Damiola, F. (Francesca), Sobol, H. (Hagay), Coupier, I. (Isabelle), Vénat-Bouvet, L. (Laurence), Castera, L. (Laurent), Gauthier-Villars, M. (Marion), Léone, M. (Mélanie), Pujol, P. (Pascal), Mazoyer, S. (Sylvie), Bignon, Y.-J. (Yves-Jean), Złowocka-Perłowska, E. (Elzbieta), Gronwald, J. (Jacek), Lubinski, J. (Jan), Durda, K. (Katarzyna), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Spurdle, A.B. (Amanda), Viel, A. (Alessandra), Peissel, B. (Bernard), Bonnani, B. (Bernardo), Melloni, G. (Giulia), Ottini, L. (Laura), Papi, L. (Laura), Varesco, L. (Liliana), Tibiletti, M.G. (Maria Grazia), Peterlongo, P. (Paolo), Volorio, S. (Sara), Manoukian, S. (Siranoush), Pensotti, V. (Valeria), Arnold, N. (Norbert), Engel, C. (Christoph), Deissler, H. (Helmut), Gadzicki, D. (Dorothea), Gehrig, P.A. (Paola A.), Kast, K. (Karin), Rhiem, K. (Kerstin), Meindl, A. (Alfons), Niederacher, D. (Dieter), Ditsch, N. (Nina), Plendl, H. (Hansjoerg), Preisler-Adams, S. (Sabine), Engert, S. (Stefanie), Sutter, C. (Christian), Varon-Mateeva, R. (Raymonda), Wapenschmidt, B. (Barbara), Weber, B.H.F. (Bernhard), Arver, B. (Brita Wasteson), Stenmark-Askmalm, M. (M.), Loman, N. (Niklas), Rosenquist, R. (R.), Einbeigi, Z. (Zakaria), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Blank, S.V. (Stephanie), Cohn, D.E. (David), Rodriguez, G.C. (Gustavo), Small, L. (Laurie), Friedlander, M. (Michael), Bae-Jump, V.L. (Victoria L.), Fink-Retter, A. (Anneliese), Rappaport, C. (Christine), Gschwantler-Kaulich, D. (Daphne), Pfeiler, G. (Georg), Tea, M.-K., Lindor, N.M. (Noralane), Kaufman, B. (Bella), Shimon Paluch, S. (Shani), Laitman, Y. (Yael), Skytte, A.-B. (Anne-Bine), Gerdes, A-M. (Anne-Marie), Pedersen, I.S. (Inge Sokilde), Moeller, S.T. (Sanne Traasdahl), Kruse, T.A. (Torben), Jensen, U.B., Vijai, J. (Joseph), Sarrel, K. (Kara), Robson, M. (Mark), Kauff, N. (Noah), Mulligan, A.M. (Anna Marie), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Ejlertsen, B. (Bent), Nielsen, F.C. (Finn), Jønson, L. (Lars), Andersen, M.K. (Mette), Ding, Y.C. (Yuan), Steele, L. (Linda), Foretova, L. (Lenka), Teulé, A. (A.), Lázaro, C. (Conxi), Brunet, J. (Joan), Pujana, M.A. (Miguel), Mai, P.L. (Phuong), Loud, J.T. (Jennifer), Walsh, C.S. (Christine), Lester, K.J. (Kathryn), Orsulic, S. (Sandra), Narod, S. (Steven), Herzog, J. (Josef), Sand, S.R. (Sharon), Tognazzo, S. (Silvia), Agata, S. (Simona), Vaszko, T. (Tibor), Weaver, J. (JoEllen), Stavropoulou, A. (Alexandra), Buys, S.S. (Saundra), Romero, A. (Alfonso), Hoya, M. (Miguel) de La, Aittomäki, K. (Kristiina), Muranen, T.A. (Taru), Durán, M. (Mercedes), Chung, W.K. (Wendy), Lasa, A. (Adriana), Dorfling, C.M. (Cecelia), Miron, A. (Alexander), Benítez, J. (Javier), Senter, L. (Leigha), Huo, D. (Dezheng), Chan, S. (Salina), Sokolenko, A. (Anna), Chiquette, J. (Jocelyne), Tihomirova, L. (Laima), Friebel, M.O.W. (Mark ), Agnarsson, B.A. (Bjarni), Lu, K.H. (Karen), Lejbkowicz, F. (Flavio), James, P.A. (Paul ), Hall, A.S. (Alistair), Dunning, A.M. (Alison), Tessier, Y. (Yann), Cunningham, J. (Jane), Slager, S. (Susan), Wang, C. (Chen), Hart, S. (Stewart), Stevens, K. (Kristen), Simard, J. (Jacques), Pastinen, T. (Tomi), Pankratz, V.S. (Shane), Offit, K. (Kenneth), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Thorne, H. (Heather), Niedermayr, E. (Eveline), Borg, Å. (Åke), Olsson, H., Jernström, H. (H.), Henriksson, K. (Karin), Harbst, K. (Katja), Soller, M. (Maria), Kristoffersson, U. (Ulf), Wang, X. (Xianshu), Öfverholm, A. (Anna), Nordling, M. (Margareta), Karlsson, P. (Per), Wachenfeldt, A. (Anna) von, Liljegren, A. (Annelie), Lindblom, A. (Annika), Bustinza, G.B., Rantala, J. (Johanna), Melin, B. (Beatrice), Ardnor, C.E. (Christina Edwinsdotter), Emanuelsson, M. (Monica), Ehrencrona, H. (Hans), Pigg, M.H. (Maritta ), Liedgren, S. (Sigrun), Rookus, M.A. (M.), Verhoef, S. (S.), Schmidt, M.K. (Marjanka), Lange, J.L. (J.) de, Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Hooning, M.J. (Maartje), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Cronenburg, T.C.T.E.F. van, Kets, C.M. (Marleen), Mensenkamp, A.R. (Arjen), Luijt, R.B. (Rob) van der, Aalfs, C.M. (Cora), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Gomez Garcia, E.B. (Encarna), Oosterwijk, J.C. (Jan), Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Ellis, S.D. (Steve), Miedzybrodzka, Z. (Zosia), Jeffers, L. (Lisa), Cole, T.J. (Trevor), Ong, K.-R. (Kai-Ren), Hoffman, J. (Jonathan), James, M. (Margaret), Paterson, J. (Joan), Taylor, A. (Amy), Murray, A. (Anna), Kennedy, M.J. (John), Barton, D.E. (David), Porteous, M.E. (Mary), Drummond, S. (Sarah), Brewer, C. (Carole), Kivuva, E. (Emma), Searle, A. (Anne), Goodman, S. (Selina), Davidson, R. (Rosemarie), Murday, V. (Victoria), Bradshaw, N. (Nicola), Snadden, L. (Lesley), Longmuir, M. (Mark), Watt, C. (Catherine), Gibson, S. (Sarah), Haque, E. (Eshika), Tobias, E. (Ed), Duncan, A. (Alexis), Jacobs, C. (Chris), Langman, C. (Caroline), Brady, A.F. (Angela), Melville, S.A. (Scott), Randhawa, K. (Kashmir), Barwell, J. (Julian), Serra-Feliu, G. (Gemma), Ellis, I.O. (Ian), Lalloo, F. (Fiona), Taylor, J. (James), Male, A. (Alison), Berlin, C. (Cheryl), Collier, R. (Rebecca), Claber, O. (Oonagh), Jobson, I. (Irene), Walker, L.J. (Lisa), McLeod, D. (Diane), Halliday, D. (Dorothy), Durell, S. (Sarah), Stayner, B. (Barbara), Shanley, S. (Susan), Rahman, N. (Nazneen), Houlston, R. (Richard), Stormorken, A. (Astrid), Bancroft, E.K. (Elizabeth), Page, E. (Elizabeth), Ardern-Jones, A. (Audrey), Kohut, K. (Kelly), Wiggins, J. (Jennifer), Castro, E. (Elena), Killick, S.R., Martin, S. (Sue), Rea, D. (Dan), Kulkarni, A. (Anjana), Quarrell, O. (Oliver), Bardsley, C. (Cathryn), Goff, S. (Sheila), Brice, G. (Glen), Winchester, L. (Lizzie), Eddy, C. (Charlotte), Tripathi, V. (Vishakha), Attard, V. (Virginia), Lehmann, A. (Anna), Lucassen, A. (Anneke), Crawford, G. (Gabe), McBride, D. (Donna), Smalley, S. (Sarah), Barjhoux, L. (Laure), Verny-Pierre, C. (Carole), Giraud, S. (Sophie), Buecher, B. (Bruno), Moncoutier, V. (Virginie), Belotti, M. (Muriel), Tirapo, C. (Carole), Pauw, A. (Antoine) de, Bressac-de Paillerets, B. (Brigitte), Caron, O. (Olivier), Uhrhammer, N. (Nancy), Bonadona, V. (Valérie), Handallou, S. (Sandrine), hardouin, A. (Agnès), Bourdon, V. (Violaine), Noguchi, T. (Tetsuro), Remenieras, A. (Audrey), Eisinger, F. (François), Peyrat, J.-P., Fournier, J. (Joëlle), Révillion, F. (Françoise), Vennin, P. (Philippe), Adenis, C. (Claude), Lidereau, R. (Rosette), Demange, L. (Liliane), Muller, D.W. (Danièle), Fricker, J.P. (Jean Pierre), Barouk-Simonet, E. (Emmanuelle), Bonnet, F. (Françoise), Bubien, V. (Virginie), Sevenet, N. (Nicolas), Longy, M. (Michel), Toulas, C. (Christine), Guimbaud, R. (Rosine), Gladieff, L. (Laurence), Feillel, V. (Viviane), Dreyfus, H. (Hélène), Rebischung, C. (Christine), Peysselon, M. (Magalie), Coron, F. (Fanny), Faivre, L. (Laurence), Lebrun, M. (Marine), Kientz, C. (Caroline), Ferrer, S.F., Frenay, M. (Marc), Mortemousque, I. (Isabelle), Coulet, F. (Florence), Colas, C. (Chrystelle), Soubrier, F., Sokolowska, J. (Johanna), Bronner, M. (Myriam), Lynch, H. (Henry), Snyder, C.L. (Carrie), Angelakos, M. (Maggie), Maskiell, J. (Judi), Dite, G.S. (Gillian), Couch, F.J. (Fergus), McGuffog, L. (Lesley), Lee, A. (Andrew), Olswold, C. (Curtis), Kuchenbaecker, K.B. (Karoline), Soucy, P. (Penny), Fredericksen, Z. (Zachary), Barrowdale, D. (Daniel), Dennis, J. (Joe), Gaudet, M.M. (Mia), Dicks, E. (Ed), Kosel, M. (Matthew), Healey, S. (Sue), Sinilnikova, O. (Olga), Bacot, F. (Francois), Vincent, D. (Daniel), Hogervorst, F.B.L. (Frans), Peock, S. (Susan), Stoppa-Lyonnet, D. (Dominique), Jakubowska, A. (Anna), Radice, P. (Paolo), Schmutzler, R.K. (Rita), Domchek, S.M. (Susan), Piedmonte, M. (Marion), Singer, C.F. (Christian), Friedman, E. (Eitan), Thomassen, M. (Mads), Hansen, T.V.O. (Thomas), Neuhausen, S.L. (Susan), Szabo, C. (Csilla), Blanco, I. (Ignacio), Greene, M.H. (Mark), Karlan, B.Y. (Beth), Garber, J., Phelan, C. (Catherine), Weitzel, J.N. (Jeffrey), Montagna, M. (Marco), Olah, E., Andrulis, I.L. (Irene), Godwin, A.K. (Andrew), Yannoukakos, D. (Drakoulis), Goldgar, D. (David), Caldes, T. (Trinidad), Nevanlinna, H. (Heli), Osorio, A. (Ana), Terry, M.-B. (Mary-Beth), Daly, M.B. (Mary), Rensburg, E.J. (Elizabeth) van, Hamann, U. (Ute), Ramus, S.J. (Susan), Ewart-Toland, A. (Amanda), Caligo, M.A. (Maria), Olopade, O.I. (Olofunmilayo), Tung, N. (Nadine), Claes, K. (Kathleen), Beattie, M.S. (Mary), Southey, M.C. (Melissa), Imyanitov, E.N. (Evgeny), Tischkowitz, M. (Marc), Janavicius, R. (Ramunas), John, E.M. (Esther), Kwong, A. (Ava), Diez, O. (Orland), Balmana, J. (Judith), Barkardottir, R.B. (Rosa), Arun, B.K. (Banu), Rennert, G. (Gad), Teo, S.-H. (Soo-Hwang), Ganz, P.A. (Patricia), Campbell, I. (Ian), Hout, A.H. (Annemarie) van der, Deurzen, C.H.M. (Carolien) van, Seynaeve, C.M. (Caroline), Gómez García, E.B. (Encarna), Leeuwen, F.E. (Flora) van, Meijers-Heijboer, H. (Hanne), Gille, J.J. (Johan), Ausems, M.G.E.M. (Margreet), Blok, M.J. (Marinus), Ligtenberg, M.J. (Marjolijn), Rookus, M.A. (Matti), Devilee, P. (Peter), Verhoef, S., Os, T.A.M. (Theo) van, Wijnen, J.T. (Juul), Frost, D. (Debra), Ellis, S. (Steve), Fineberg, E. (Elena), Platte, R. (Radka), Evans, D.G. (Gareth), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Eccles, D. (Diana), Cook, J. (Jackie), Brewer, C. (C.), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Morrison, P.J. (Patrick), Side, L. (Lucy), Donaldson, A. (Alan), Houghton, C. (Catherine), Rogers, M.T. (Mark), Dorkins, H. (Huw), Eason, J. (Jacqueline), Gregory, H. (Helen), McCann, E. (Emma), Murray, A. (Alexandra), Calender, A. (Alain), Hardouin, A. (Agnès), Berthet, P. (Pascaline), Delnatte, C.D. (Capucine), Nogues, C. (Catherine), Lasset, C. (Christine), Houdayer, C. (Claude), Leroux, D. (Dominique), Rouleau, E. (Etienne), Prieur, F. (Fabienne), Damiola, F. (Francesca), Sobol, H. (Hagay), Coupier, I. (Isabelle), Vénat-Bouvet, L. (Laurence), Castera, L. (Laurent), Gauthier-Villars, M. (Marion), Léone, M. (Mélanie), Pujol, P. (Pascal), Mazoyer, S. (Sylvie), Bignon, Y.-J. (Yves-Jean), Złowocka-Perłowska, E. (Elzbieta), Gronwald, J. (Jacek), Lubinski, J. (Jan), Durda, K. (Katarzyna), Jaworska, K. (Katarzyna), Huzarski, T. (Tomasz), Spurdle, A.B. (Amanda), Viel, A. (Alessandra), Peissel, B. (Bernard), Bonnani, B. (Bernardo), Melloni, G. (Giulia), Ottini, L. (Laura), Papi, L. (Laura), Varesco, L. (Liliana), Tibiletti, M.G. (Maria Grazia), Peterlongo, P. (Paolo), Volorio, S. (Sara), Manoukian, S. (Siranoush), Pensotti, V. (Valeria), Arnold, N. (Norbert), Engel, C. (Christoph), Deissler, H. (Helmut), Gadzicki, D. (Dorothea), Gehrig, P.A. (Paola A.), Kast, K. (Karin), Rhiem, K. (Kerstin), Meindl, A. (Alfons), Niederacher, D. (Dieter), Ditsch, N. (Nina), Plendl, H. (Hansjoerg), Preisler-Adams, S. (Sabine), Engert, S. (Stefanie), Sutter, C. (Christian), Varon-Mateeva, R. (Raymonda), Wapenschmidt, B. (Barbara), Weber, B.H.F. (Bernhard), Arver, B. (Brita Wasteson), Stenmark-Askmalm, M. (M.), Loman, N. (Niklas), Rosenquist, R. (R.), Einbeigi, Z. (Zakaria), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Blank, S.V. (Stephanie), Cohn, D.E. (David), Rodriguez, G.C. (Gustavo), Small, L. (Laurie), Friedlander, M. (Michael), Bae-Jump, V.L. (Victoria L.), Fink-Retter, A. (Anneliese), Rappaport, C. (Christine), Gschwantler-Kaulich, D. (Daphne), Pfeiler, G. (Georg), Tea, M.-K., Lindor, N.M. (Noralane), Kaufman, B. (Bella), Shimon Paluch, S. (Shani), Laitman, Y. (Yael), Skytte, A.-B. (Anne-Bine), Gerdes, A-M. (Anne-Marie), Pedersen, I.S. (Inge Sokilde), Moeller, S.T. (Sanne Traasdahl), Kruse, T.A. (Torben), Jensen, U.B., Vijai, J. (Joseph), Sarrel, K. (Kara), Robson, M. (Mark), Kauff, N. (Noah), Mulligan, A.M. (Anna Marie), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Ejlertsen, B. (Bent), Nielsen, F.C. (Finn), Jønson, L. (Lars), Andersen, M.K. (Mette), Ding, Y.C. (Yuan), Steele, L. (Linda), Foretova, L. (Lenka), Teulé, A. (A.), Lázaro, C. (Conxi), Brunet, J. (Joan), Pujana, M.A. (Miguel), Mai, P.L. (Phuong), Loud, J.T. (Jennifer), Walsh, C.S. (Christine), Lester, K.J. (Kathryn), Orsulic, S. (Sandra), Narod, S. (Steven), Herzog, J. (Josef), Sand, S.R. (Sharon), Tognazzo, S. (Silvia), Agata, S. (Simona), Vaszko, T. (Tibor), Weaver, J. (JoEllen), Stavropoulou, A. (Alexandra), Buys, S.S. (Saundra), Romero, A. (Alfonso), Hoya, M. (Miguel) de La, Aittomäki, K. (Kristiina), Muranen, T.A. (Taru), Durán, M. (Mercedes), Chung, W.K. (Wendy), Lasa, A. (Adriana), Dorfling, C.M. (Cecelia), Miron, A. (Alexander), Benítez, J. (Javier), Senter, L. (Leigha), Huo, D. (Dezheng), Chan, S. (Salina), Sokolenko, A. (Anna), Chiquette, J. (Jocelyne), Tihomirova, L. (Laima), Friebel, M.O.W. (Mark ), Agnarsson, B.A. (Bjarni), Lu, K.H. (Karen), Lejbkowicz, F. (Flavio), James, P.A. (Paul ), Hall, A.S. (Alistair), Dunning, A.M. (Alison), Tessier, Y. (Yann), Cunningham, J. (Jane), Slager, S. (Susan), Wang, C. (Chen), Hart, S. (Stewart), Stevens, K. (Kristen), Simard, J. (Jacques), Pastinen, T. (Tomi), Pankratz, V.S. (Shane), Offit, K. (Kenneth), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Thorne, H. (Heather), Niedermayr, E. (Eveline), Borg, Å. (Åke), Olsson, H., Jernström, H. (H.), Henriksson, K. (Karin), Harbst, K. (Katja), Soller, M. (Maria), Kristoffersson, U. (Ulf), Wang, X. (Xianshu), Öfverholm, A. (Anna), Nordling, M. (Margareta), Karlsson, P. (Per), Wachenfeldt, A. (Anna) von, Liljegren, A. (Annelie), Lindblom, A. (Annika), Bustinza, G.B., Rantala, J. (Johanna), Melin, B. (Beatrice), Ardnor, C.E. (Christina Edwinsdotter), Emanuelsson, M. (Monica), Ehrencrona, H. (Hans), Pigg, M.H. (Maritta ), Liedgren, S. (Sigrun), Rookus, M.A. (M.), Verhoef, S. (S.), Schmidt, M.K. (Marjanka), Lange, J.L. (J.) de, Collée, J.M. (Margriet), Ouweland, A.M.W. (Ans) van den, Hooning, M.J. (Maartje), Asperen, C.J. (Christi) van, Tollenaar, R.A.E.M. (Rob), Cronenburg, T.C.T.E.F. van, Kets, C.M. (Marleen), Mensenkamp, A.R. (Arjen), Luijt, R.B. (Rob) van der, Aalfs, C.M. (Cora), Waisfisz, Q. (Quinten), Meijers-Heijboer, E.J. (Hanne), Gomez Garcia, E.B. (Encarna), Oosterwijk, J.C. (Jan), Mourits, M.J. (Marjan), Bock, G.H. (Geertruida) de, Ellis, S.D. (Steve), Miedzybrodzka, Z. (Zosia), Jeffers, L. (Lisa), Cole, T.J. (Trevor), Ong, K.-R. (Kai-Ren), Hoffman, J. (Jonathan), James, M. (Margaret), Paterson, J. (Joan), Taylor, A. (Amy), Murray, A. (Anna), Kennedy, M.J. (John), Barton, D.E. (David), Porteous, M.E. (Mary), Drummond, S. (Sarah), Brewer, C. (Carole), Kivuva, E. (Emma), Searle, A. (Anne), Goodman, S. (Selina), Davidson, R. (Rosemarie), Murday, V. (Victoria), Bradshaw, N. (Nicola), Snadden, L. (Lesley), Longmuir, M. (Mark), Watt, C. (Catherine), Gibson, S. (Sarah), Haque, E. (Eshika), Tobias, E. (Ed), Duncan, A. (Alexis), Jacobs, C. (Chris), Langman, C. (Caroline), Brady, A.F. (Angela), Melville, S.A. (Scott), Randhawa, K. (Kashmir), Barwell, J. (Julian), Serra-Feliu, G. (Gemma), Ellis, I.O. (Ian), Lalloo, F. (Fiona), Taylor, J. (James), Male, A. (Alison), Berlin, C. (Cheryl), Collier, R. (Rebecca), Claber, O. (Oonagh), Jobson, I. (Irene), Walker, L.J. (Lisa), McLeod, D. (Diane), Halliday, D. (Dorothy), Durell, S. (Sarah), Stayner, B. (Barbara), Shanley, S. (Susan), Rahman, N. (Nazneen), Houlston, R. (Richard), Stormorken, A. (Astrid), Bancroft, E.K. (Elizabeth), Page, E. (Elizabeth), Ardern-Jones, A. (Audrey), Kohut, K. (Kelly), Wiggins, J. (Jennifer), Castro, E. (Elena), Killick, S.R., Martin, S. (Sue), Rea, D. (Dan), Kulkarni, A. (Anjana), Quarrell, O. (Oliver), Bardsley, C. (Cathryn), Goff, S. (Sheila), Brice, G. (Glen), Winchester, L. (Lizzie), Eddy, C. (Charlotte), Tripathi, V. (Vishakha), Attard, V. (Virginia), Lehmann, A. (Anna), Lucassen, A. (Anneke), Crawford, G. (Gabe), McBride, D. (Donna), Smalley, S. (Sarah), Barjhoux, L. (Laure), Verny-Pierre, C. (Carole), Giraud, S. (Sophie), Buecher, B. (Bruno), Moncoutier, V. (Virginie), Belotti, M. (Muriel), Tirapo, C. (Carole), Pauw, A. (Antoine) de, Bressac-de Paillerets, B. (Brigitte), Caron, O. (Olivier), Uhrhammer, N. (Nancy), Bonadona, V. (Valérie), Handallou, S. (Sandrine), hardouin, A. (Agnès), Bourdon, V. (Violaine), Noguchi, T. (Tetsuro), Remenieras, A. (Audrey), Eisinger, F. (François), Peyrat, J.-P., Fournier, J. (Joëlle), Révillion, F. (Françoise), Vennin, P. (Philippe), Adenis, C. (Claude), Lidereau, R. (Rosette), Demange, L. (Liliane), Muller, D.W. (Danièle), Fricker, J.P. (Jean Pierre), Barouk-Simonet, E. (Emmanuelle), Bonnet, F. (Françoise), Bubien, V. (Virginie), Sevenet, N. (Nicolas), Longy, M. (Michel), Toulas, C. (Christine), Guimbaud, R. (Rosine), Gladieff, L. (Laurence), Feillel, V. (Viviane), Dreyfus, H. (Hélène), Rebischung, C. (Christine), Peysselon, M. (Magalie), Coron, F. (Fanny), Faivre, L. (Laurence), Lebrun, M. (Marine), Kientz, C. (Caroline), Ferrer, S.F., Frenay, M. (Marc), Mortemousque, I. (Isabelle), Coulet, F. (Florence), Colas, C. (Chrystelle), Soubrier, F., Sokolowska, J. (Johanna), Bronner, M. (Myriam), Lynch, H. (Henry), Snyder, C.L. (Carrie), Angelakos, M. (Maggie), Maskiell, J. (Judi), and Dite, G.S. (Gillian)
Abstract: 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 diagnosed with breast and 1,839 were diagnosed with ovarian cancer), with a further replication in an additional sample of 2,646 BRCA1 carriers. We identified a novel breast cancer risk modifier locus at 1q32 for BRCA1 carriers (rs2290854, P = 2.7×10-8, HR = 1.14, 95% CI: 1.09-1.20). In addition, we identified two novel ovarian cancer risk modifier loci: 17q21.31 (rs17631303, P = 1.4×10-8, HR = 1.27, 95% CI: 1.17-1.38) and 4q32.3 (rs4691139, P = 3.4×10-8, HR = 1.20, 95% CI: 1.17-1.38). The 4q32.3 locus was not associated with ovarian cancer risk in the general population or BRCA2 carriers, suggesting a BRCA1-specific associati
Published: 2013
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6. A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

Author: Ding, Y.C. (Yuan), McGuffog, L. (Lesley), Healey, S. (Sue), Friedman, E. (Eitan), Laitman, Y. (Yael), Shimon, S.-P. (Shani-Paluch), Kaufman, B. (Bella), Liljegren, A. (Annelie), Lindblom, A. (Annika), Olsson, H., Kristoffersson, U. (Ulf), Stenmark-Askmalm, M. (M.), Melin, B. (Beatrice), Domchek, S.M. (Susan), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Gronwald, J. (Jacek), Huzarski, T. (Tomasz), Cybulski, C. (Cezary), Byrski, T. (Tomasz), Osorio, A. (Ana), Cajal, T.R., Stavropoulou, A. (Alexandra), Benítez, J. (Javier), Hamann, U. (Ute), Rookus, M.A. (Matti), Aalfs, C.M. (Cora), Lange, J.L. (J.) de, Meijers-Heijboer, E.J. (Hanne), Oosterwijk, J.C. (Jan), Asperen, C.J. (Christi) van, Gómez García, E.B. (Encarna), Hoogerbrugge, N. (Nicoline), Jager, A. (Agnes), Luijt, R.B. (Rob) van der, Easton, D.F. (Douglas), Peock, S. (Susan), Frost, D. (Debra), Ellis, S.D. (Steve), Platte, R. (Radka), Fineberg, E. (Elena), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Davidson, R. (Rosemarie), Eccles, D. (Diana), Cole, T.J. (Trevor), Cook, J. (Jackie), Brewer, C. (Carole), Tischkowitz, M. (Marc), Godwin, A.K. (Andrew), Pathak, S.S., Stoppa-Lyonnet, D. (Dominique), Sinilnikova, O. (Olga), Mazoyer, S. (Sylvie), Barjhoux, L. (Laure), Léone, M. (Mélanie), Gauthier-Villars, M. (Marion), Caux-Moncoutier, V. (Virginie), Pauw, A. (Antoine) de, Hardouin, A. (Agnès), Berthet, P. (Pascaline), Dreyfus, H. (Hélène), Ferrer, S.F., Collonge-Rame, M.-A., Sokolowska, J. (Johanna), Buys, S.S. (Saundra), Daly, M.B. (Mary), Miron, A. (Alexander), Terry, M.-B. (Mary-Beth), Chung, W. (Wendy), John, E.M. (Esther), Southey, M.C. (Melissa), Goldgar, D. (David), Singer, C.F. (Christian), Tea, M.-K., Gschwantler-Kaulich, D. (Daphne), Fink-Retter, A. (Anneliese), Hansen, T.V.O. (Thomas), Ejlertsen, B. (Bent), Johannson, O.T. (Oskar), Offit, K. (Kenneth), Sarrel, K. (Kara), Gaudet, M.M. (Mia), Vijai, J. (Joseph), Robson, M. (Mark), Piedmonte, M. (Marion), Andrews, L. (Lesley), Cohn, D.E. (David), DeMars, L.R. (Leslie), DiSilvestro, P. (Paul), Rodriguez, G.C. (Gustavo), Toland, A.E. (Amanda), Montagna, M. (Marco), Agata, S. (Simona), Imyanitov, E.N. (Evgeny), Isaacs, C. (Claudine), Janavicius, R. (Ramunas), Lázaro, C. (Conxi), Blanco, I. (Ignacio), Ramus, S.J. (Susan), Sucheston, L. (Lara), Karlan, B.Y. (Beth), Gross, J. (Jenny), Ganz, P.A. (Patricia), Beattie, M.S. (Mary), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Meindl, A. (Alfons), Arnold, N. (Norbert), Niederacher, D. (Dieter), Preisler-Adams, S. (Sabine), Gadzicki, D. (Dorothea), Varon-Mateeva, R. (Raymonda), Deissler, H. (Helmut), Gehrig, P.A. (Paola A.), Sutter, C. (Christian), Kast, K. (Karin), Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Simard, J. (Jacques), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Tomlinson, G. (Gail), Weitzel, J.N. (Jeffrey), Garber, J., Olopade, O.I. (Olofunmilayo), Rubinstein, W.S. (Wendy), Tung, N. (Nadine), Blum, J.L. (Joanne), Narod, S. (Steven), Brummel, S. (Sean), Gillen, D.L. (Daniel), Lindor, N.M. (Noralane), Fredericksen, Z. (Zachary), Pankratz, V.S. (Shane), Couch, F.J. (Fergus), Radice, P. (Paolo), Peterlongo, P. (Paolo), Greene, M.H. (Mark), Loud, J.T. (Jennifer), Mai, P.L. (Phuong), Andrulis, I.L. (Irene), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Gerdes, A-M. (Anne-Marie), Thomassen, M. (Mads), Jensen, U.B., Skytte, A.-B. (Anne-Bine), Caligo, M.A. (Maria), Lee, A. (Andrew), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), McGuffog, L. (Lesley), Healey, S. (Sue), Friedman, E. (Eitan), Laitman, Y. (Yael), Shimon, S.-P. (Shani-Paluch), Kaufman, B. (Bella), Liljegren, A. (Annelie), Lindblom, A. (Annika), Olsson, H., Kristoffersson, U. (Ulf), Stenmark-Askmalm, M. (M.), Melin, B. (Beatrice), Domchek, S.M. (Susan), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Gronwald, J. (Jacek), Huzarski, T. (Tomasz), Cybulski, C. (Cezary), Byrski, T. (Tomasz), Osorio, A. (Ana), Cajal, T.R., Stavropoulou, A. (Alexandra), Benítez, J. (Javier), Hamann, U. (Ute), Rookus, M.A. (Matti), Aalfs, C.M. (Cora), Lange, J.L. (J.) de, Meijers-Heijboer, E.J. (Hanne), Oosterwijk, J.C. (Jan), Asperen, C.J. (Christi) van, Gómez García, E.B. (Encarna), Hoogerbrugge, N. (Nicoline), Jager, A. (Agnes), Luijt, R.B. (Rob) van der, Easton, D.F. (Douglas), Peock, S. (Susan), Frost, D. (Debra), Ellis, S.D. (Steve), Platte, R. (Radka), Fineberg, E. (Elena), Evans, D.G. (Gareth), Lalloo, F. (Fiona), Izatt, L. (Louise), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Davidson, R. (Rosemarie), Eccles, D. (Diana), Cole, T.J. (Trevor), Cook, J. (Jackie), Brewer, C. (Carole), Tischkowitz, M. (Marc), Godwin, A.K. (Andrew), Pathak, S.S., Stoppa-Lyonnet, D. (Dominique), Sinilnikova, O. (Olga), Mazoyer, S. (Sylvie), Barjhoux, L. (Laure), Léone, M. (Mélanie), Gauthier-Villars, M. (Marion), Caux-Moncoutier, V. (Virginie), Pauw, A. (Antoine) de, Hardouin, A. (Agnès), Berthet, P. (Pascaline), Dreyfus, H. (Hélène), Ferrer, S.F., Collonge-Rame, M.-A., Sokolowska, J. (Johanna), Buys, S.S. (Saundra), Daly, M.B. (Mary), Miron, A. (Alexander), Terry, M.-B. (Mary-Beth), Chung, W. (Wendy), John, E.M. (Esther), Southey, M.C. (Melissa), Goldgar, D. (David), Singer, C.F. (Christian), Tea, M.-K., Gschwantler-Kaulich, D. (Daphne), Fink-Retter, A. (Anneliese), Hansen, T.V.O. (Thomas), Ejlertsen, B. (Bent), Johannson, O.T. (Oskar), Offit, K. (Kenneth), Sarrel, K. (Kara), Gaudet, M.M. (Mia), Vijai, J. (Joseph), Robson, M. (Mark), Piedmonte, M. (Marion), Andrews, L. (Lesley), Cohn, D.E. (David), DeMars, L.R. (Leslie), DiSilvestro, P. (Paul), Rodriguez, G.C. (Gustavo), Toland, A.E. (Amanda), Montagna, M. (Marco), Agata, S. (Simona), Imyanitov, E.N. (Evgeny), Isaacs, C. (Claudine), Janavicius, R. (Ramunas), Lázaro, C. (Conxi), Blanco, I. (Ignacio), Ramus, S.J. (Susan), Sucheston, L. (Lara), Karlan, B.Y. (Beth), Gross, J. (Jenny), Ganz, P.A. (Patricia), Beattie, M.S. (Mary), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Meindl, A. (Alfons), Arnold, N. (Norbert), Niederacher, D. (Dieter), Preisler-Adams, S. (Sabine), Gadzicki, D. (Dorothea), Varon-Mateeva, R. (Raymonda), Deissler, H. (Helmut), Gehrig, P.A. (Paola A.), Sutter, C. (Christian), Kast, K. (Karin), Nevanlinna, H. (Heli), Aittomäki, K. (Kristiina), Simard, J. (Jacques), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Tomlinson, G. (Gail), Weitzel, J.N. (Jeffrey), Garber, J., Olopade, O.I. (Olofunmilayo), Rubinstein, W.S. (Wendy), Tung, N. (Nadine), Blum, J.L. (Joanne), Narod, S. (Steven), Brummel, S. (Sean), Gillen, D.L. (Daniel), Lindor, N.M. (Noralane), Fredericksen, Z. (Zachary), Pankratz, V.S. (Shane), Couch, F.J. (Fergus), Radice, P. (Paolo), Peterlongo, P. (Paolo), Greene, M.H. (Mark), Loud, J.T. (Jennifer), Mai, P.L. (Phuong), Andrulis, I.L. (Irene), Glendon, G. (Gord), Ozcelik, H. (Hilmi), Gerdes, A-M. (Anne-Marie), Thomassen, M. (Mads), Jensen, U.B., Skytte, A.-B. (Anne-Bine), Caligo, M.A. (Maria), Lee, A. (Andrew), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), and Neuhausen, S.L. (Susan)
Abstract: Background: We previously reported significant associations between genetic variants in insulin receptor substrate 1 (IRS1) and breast cancer risk inwomen carrying BRCA1 mutations. The objectives of this study were to investigate whether the IRS1 variants modified ovarian cancer risk and were associated with breast cancer risk in a larger cohort of BRCA1 and BRCA2 mutation carriers. Methods: IRS1
Published: 2012
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7. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

Author: Couch, F.J. (Fergus), Gaudet, M.M. (Mia), Antoniou, A.C. (Antonis), Ramus, S.J. (Susan), Kuchenbaecker, K.B. (Karoline), Soucy, P. (Penny), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Wang, X. (Xing), Kircchoff, T. (Tomas), McGuffog, L. (Lesley), Barrowdale, D. (Daniel), Lee, A. (Andrew), Healey, S. (Sue), Sinilnikova, O. (Olga), Andrulis, I.L. (Irene), Ozcelik, H. (Hilmi), Mulligan, A.M. (Anna Marie), Thomassen, M. (Mads), Gerdes, A-M. (Anne-Marie), Jensen, U.B., Skytte, A.-B. (Anne-Bine), Kruse, T.A. (Torben), Caligo, M.A. (Maria), Wachenfeldt, A. (Anna) von, Barbany-Bustinza, G. (Gisela), Loman, N. (Niklas), Soller, M. (Maria), Ehrencrona, H. (Hans), Karlsson, P. (Per), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Domchek, S.M. (Susan), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Zołwocka, E. (Elzbieta), Huzarski, T. (Tomasz), Byrski, T. (Tomasz), Gronwald, J. (Jacek), Cybulski, C. (Cezary), Górski, B. (Bohdan), Osorio, A. (Ana), Durán, M. (Mercedes), Tejada, M.I., Benítez, J. (Javier), Hamann, U. (Ute), Hogervorst, F.B.L. (Frans), Os, T.A.M. (Theo) van, Leeuwen, F. (Fred) van, Meijers-Heijboer, E.J. (Hanne), Wijnen, J.T. (Juul), Blok, M.J. (Marinus), Kets, C.M. (Marleen), Hooning, M.J. (Maartje), Oldenburg, R.A. (Rogier), Ausems, M.G.E.M. (Margreet), Peock, S. (Susan), Frost, D. (Debra), Ellis, S.D. (Steve), Platte, R. (Radka), Fineberg, E. (Elena), Evans, D.G. (Gareth), Jacobs, C. (Chris), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Davidson, R. (Rosemarie), Eccles, D. (Diana), Cole, T.J. (Trevor), Cook, J. (Jackie), Paterson, J. (Joan), Brewer, C. (Carole), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Morrison, P.J. (Patrick), Walker, L.J. (Lisa), Porteous, M.E. (Mary), Kennedy, M.J. (John), Side, L. (Lucy), Bove, B. (B.), Godwin, A.K. (Andrew), Stoppa-Lyonnet, D. (Dominique), Fassy-Colcombet, M. (Marion), Castera, L. (Laurent), Cornelis, F. (Franco̧is), Mazoyer, S. (Sylvie), Léone, M. (Mélanie), Boutry-Kryza, N. (N.), Bressac-de Paillerets, B. (Brigitte), Caron, O. (Olivier), Pujol, P. (Pascal), Coupier, I. (Isabelle), Delnatte, C.D. (Capucine), Akloul, L. (Linda), Lynch, H. (Henry), Snyder, C.L. (Carrie), Buys, S.S. (Saundra), Daly, M.B. (Mary), Terry, M.-B. (Mary-Beth), Chung, W. (Wendy), John, E.M. (Esther), Miron, A. (Alexander), Southey, M.C. (Melissa), Hopper, J.L. (John), Goldgar, D. (David), Singer, C.F. (Christian), Rappaport, C. (Christine), Tea, M.-K., Fink-Retter, A. (Anneliese), Hansen, T.V.O. (Thomas), Nielsen, F.C. (Finn), Arason, A. (Adalgeir), Vijai, J. (Joseph), Shah, S. (Sonia), Sarrel, K. (Kara), Robson, M. (Mark), Piedmonte, M. (Marion), Phillips, K. (Kelly), Basil, J. (Jack), Rubinstein, W.S. (Wendy), Boggess, J.F. (John), Wakeley, K. (Katie), Ewart-Toland, A. (Amanda), Montagna, M. (Marco), Agata, S. (Simona), Imyanitov, E.N. (Evgeny), Isaacs, C. (Claudine), Janavicius, R. (Ramunas), Lázaro, C. (Conxi), Blanco, I. (Ignacio), Feliubadaló, L. (L.), Brunet, J. (Joan), Gayther, S.A. (Simon), Pharoah, P.D.P. (Paul), Odunsi, K. (Kunle), Karlan, B.Y. (Beth), Walsh, C.S. (Christine), Olah, E., Teo, S.-H. (Soo-Hwang), Ganz, P.A. (Patricia), Beattie, M.S. (Mary), Rensburg, E.J. (Elizabeth) van, Dorfling, C.M. (Cecelia), Diez, O. (Orland), Kwong, A. (Ava), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Engel, C. (Christoph), Meindl, A. (Alfons), Ditsch, N. (Nina), Arnold, N. (Norbert), Heidemann, S. (Simone), Niederacher, D. (Dieter), Preisler-Adams, S. (Sabine), Gadzicki, D. (Dorothea), Varon-Mateeva, R. (Raymonda), Deissler, H. (Helmut), Gehrig, P.A. (Paola A.), Sutter, C. (Christian), Kast, K. (Karin), Fiebig, B. (Britta), Heinritz, W. (Wolfram), Caldes, T. (Trinidad), Hoya, M. (Miguel) de La, Muranen, T.A. (Taru), Nevanlinna, H. (Heli), Tischkowitz, M. (Marc), Spurdle, A.B. (Amanda), Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), Lindor, N.M. (Noralane), Fredericksen, Z. (Zachary), Pankratz, V.S. (Shane), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (D.), Barile, M. (Monica), Bernard, L. (Loris), Viel, A. (Alessandra), Giannini, G. (Giuseppe), Varesco, L. (Liliana), Radice, P. (Paolo), Greene, M.H. (Mark), Mai, P.L. (Phuong), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Offit, K. (Kenneth), Simard, J. (Jacques), Couch, F.J. (Fergus), Gaudet, M.M. (Mia), Antoniou, A.C. (Antonis), Ramus, S.J. (Susan), Kuchenbaecker, K.B. (Karoline), Soucy, P. (Penny), Beesley, J. (Jonathan), Chen, X. (Xiaoqing), Wang, X. (Xing), Kircchoff, T. (Tomas), McGuffog, L. (Lesley), Barrowdale, D. (Daniel), Lee, A. (Andrew), Healey, S. (Sue), Sinilnikova, O. (Olga), Andrulis, I.L. (Irene), Ozcelik, H. (Hilmi), Mulligan, A.M. (Anna Marie), Thomassen, M. (Mads), Gerdes, A-M. (Anne-Marie), Jensen, U.B., Skytte, A.-B. (Anne-Bine), Kruse, T.A. (Torben), Caligo, M.A. (Maria), Wachenfeldt, A. (Anna) von, Barbany-Bustinza, G. (Gisela), Loman, N. (Niklas), Soller, M. (Maria), Ehrencrona, H. (Hans), Karlsson, P. (Per), Nathanson, K.L. (Katherine), Rebbeck, R. (Timothy), Domchek, S.M. (Susan), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Zołwocka, E. (Elzbieta), Huzarski, T. (Tomasz), Byrski, T. (Tomasz), Gronwald, J. (Jacek), Cybulski, C. (Cezary), Górski, B. (Bohdan), Osorio, A. (Ana), Durán, M. (Mercedes), Tejada, M.I., Benítez, J. (Javier), Hamann, U. (Ute), Hogervorst, F.B.L. (Frans), Os, T.A.M. (Theo) van, Leeuwen, F. (Fred) van, Meijers-Heijboer, E.J. (Hanne), Wijnen, J.T. (Juul), Blok, M.J. (Marinus), Kets, C.M. (Marleen), Hooning, M.J. (Maartje), Oldenburg, R.A. (Rogier), Ausems, M.G.E.M. (Margreet), Peock, S. (Susan), Frost, D. (Debra), Ellis, S.D. (Steve), Platte, R. (Radka), Fineberg, E. (Elena), Evans, D.G. (Gareth), Jacobs, C. (Chris), Eeles, R. (Rosalind), Adlard, J.W. (Julian), Davidson, R. (Rosemarie), Eccles, D. (Diana), Cole, T.J. (Trevor), Cook, J. (Jackie), Paterson, J. (Joan), Brewer, C. (Carole), Douglas, F. (Fiona), Hodgson, S.V. (Shirley), Morrison, P.J. (Patrick), Walker, L.J. (Lisa), Porteous, M.E. (Mary), Kennedy, M.J. (John), Side, L. (Lucy), Bove, B. (B.), Godwin, A.K. (Andrew), Stoppa-Lyonnet, D. (Dominique), Fassy-Colcombet, M. (Marion), Castera, L. (Laurent), Cornelis, F. (Franco̧is), Mazoyer, S. (Sylvie), Léone, M. (Mélanie), Boutry-Kryza, N. (N.), Bressac-de Paillerets, B. (Brigitte), Caron, O. (Olivier), Pujol, P. (Pascal), Coupier, I. (Isabelle), Delnatte, C.D. (Capucine), Akloul, L. (Linda), Lynch, H. (Henry), Snyder, C.L. (Carrie), Buys, S.S. (Saundra), Daly, M.B. (Mary), Terry, M.-B. (Mary-Beth), Chung, W. (Wendy), John, E.M. (Esther), Miron, A. (Alexander), Southey, M.C. (Melissa), Hopper, J.L. (John), Goldgar, D. (David), Singer, C.F. (Christian), Rappaport, C. (Christine), Tea, M.-K., Fink-Retter, A. (Anneliese), Hansen, T.V.O. (Thomas), Nielsen, F.C. (Finn), Arason, A. (Adalgeir), Vijai, J. (Joseph), Shah, S. (Sonia), Sarrel, K. (Kara), Robson, M. (Mark), Piedmonte, M. (Marion), Phillips, K. (Kelly), Basil, J. (Jack), Rubinstein, W.S. (Wendy), Boggess, J.F. (John), Wakeley, K. (Katie), Ewart-Toland, A. (Amanda), Montagna, M. (Marco), Agata, S. (Simona), Imyanitov, E.N. (Evgeny), Isaacs, C. (Claudine), Janavicius, R. (Ramunas), Lázaro, C. (Conxi), Blanco, I. (Ignacio), Feliubadaló, L. (L.), Brunet, J. (Joan), Gayther, S.A. (Simon), Pharoah, P.D.P. (Paul), Odunsi, K. (Kunle), Karlan, B.Y. (Beth), Walsh, C.S. (Christine), Olah, E., Teo, S.-H. (Soo-Hwang), Ganz, P.A. (Patricia), Beattie, M.S. (Mary), Rensburg, E.J. (Elizabeth) van, Dorfling, C.M. (Cecelia), Diez, O. (Orland), Kwong, A. (Ava), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Engel, C. (Christoph), Meindl, A. (Alfons), Ditsch, N. (Nina), Arnold, N. (Norbert), Heidemann, S. (Simone), Niederacher, D. (Dieter), Preisler-Adams, S. (Sabine), Gadzicki, D. (Dorothea), Varon-Mateeva, R. (Raymonda), Deissler, H. (Helmut), Gehrig, P.A. (Paola A.), Sutter, C. (Christian), Kast, K. (Karin), Fiebig, B. (Britta), Heinritz, W. (Wolfram), Caldes, T. (Trinidad), Hoya, M. (Miguel) de La, Muranen, T.A. (Taru), Nevanlinna, H. (Heli), Tischkowitz, M. (Marc), Spurdle, A.B. (Amanda), Neuhausen, S.L. (Susan), Ding, Y.C. (Yuan), Lindor, N.M. (Noralane), Fredericksen, Z. (Zachary), Pankratz, V.S. (Shane), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Zaffaroni, D. (D.), Barile, M. (Monica), Bernard, L. (Loris), Viel, A. (Alessandra), Giannini, G. (Giuseppe), Varesco, L. (Liliana), Radice, P. (Paolo), Greene, M.H. (Mark), Mai, P.L. (Phuong), Easton, D.F. (Douglas), Chenevix-Trench, G. (Georgia), Offit, K. (Kenneth), and Simard, J. (Jacques)
Abstract: Background: Genome-wide association studies (GWAS) identified variants at 19p13.1 and ZNF365 (10q21.2) as risk factors for breast cancer among BRCA1 and BRCA2 mutation carriers, respectively. We explored associations with ovarian cancer and with breast cancer by tumor histopathology for these variants in mutation carriers from the Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA). Methods: Genotyping data for 12,599 BRCA1 and 7,132 BRCA2 mutation carriers from 40 studies were combined. Results: We confirmed associations between rs8170 at 19p13.1 and breast cancer risk for BRCA1 mutation carriers [HR, 1.17; 95% confidence interval (CI), 1.07-1.27; P = 7.42 × 10 -4] and between rs16917302 at ZNF365 (HR, 0.84; 95% CI, 0.73-0.97; P = 0.017) but not rs311499 at 20q13.3 (HR, 1.11; 95% CI, 0.94-1.31; P = 0.22) and breast cancer risk for BRCA2 mutation carriers. Analyses based on tumor histopathology showed that 19p13 variants were predominantly associated with estrogen receptor (ER)-negative breast cancer for both BRCA1 and BRCA2 mutation carriers, whereas rs16917302 at ZNF365 was mainly associated with ER-positive breast cancer for both BRCA1 and BRCA2 mutation carriers.Wealso found for the first time that rs67397200 at 19p13.1 was associated with an increased risk of ovarian cancer for BRCA1 (HR, 1.16; 95% CI, 1.05-1.29; P = 3.8 × 10 -4) and BRCA2 mutation carriers (HR, 1.30; 95% CI, 1.10-1.52; P = 1.8 × 10-3). Conclusions: 19p13.1 and ZNF365 are susceptibility loci for ovarian cancer and ER subtypes of breast cancer among BRCA1 and BRCA2 mutation carriers. Impact: These findings can lead to an improved understanding of tumor development and may prove useful for breast and ovarian cancer risk prediction for BRCA1 and BRCA2 mutation carriers.
Published: 2012
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8. Comparison of 6q25 breast cancer hits from Asian and European genome wide association studies in the Breast Cancer Association consortium (BCAC)

Author: Hein, R. (Rebecca), Maranian, M. (Melanie), Hopper, J.L. (John), Kapuscinski, M.K. (Miroslaw), Southey, M.C. (Melissa), Park, D.J. (Daniel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Bueno-de-Mesquit, H.B. (Bas), Muir, K.R. (Kenneth), Lophatananon, A. (Artitaya), Rattanamongkongul, S. (Suthee), Puttawibul, P. (Puttisak), Fasching, P.A. (Peter), Hein, A. (Alexander), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Fletcher, O. (Olivia), Johnson, N. (Nichola), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Marmee, F. (Frederick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Cordina-Duverger, E. (Emilie), Menegaux, F. (Florence), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Perez, J.I.A. (Jose Ignacio Arias), Zamora, M.P. (Pilar), Benítez, J. (Javier), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Clarke, C.A. (Christina), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Rahman, N. (Nazneen), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Meindl, A. (Alfons), Schott, S. (Sarah), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Wang-Gohrke, S. (Shan), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Zalutsky, I.V. (Iosif), Antonenkova, N.N. (Natalia), Bermisheva, M. (Marina), Prokovieva, D. (Darya), Farahtdinova, A. (Albina), Khusnutdinova, E.K. (Elza), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Lambrechts, D. (Diether), Zhao, H. (Hui), Neven, P. (Patrick), Wildiers, H. (Hans), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xianshu), Fredericksen, Z. (Zachary), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Severi, G. (Gianluca), Offit, K. (Kenneth), Robson, M. (Mark), Gaudet, M.M. (Mia), Vijai, J. (Joseph), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børresen-Dale, A.L. (Anne Lise), John, E.M. (Esther), Miron, A. (Alexander), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Figueroa, J.D. (Jonine), García-Closas, M. (Montserrat), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Seynaeve, C.M. (Caroline), Collée, J.M. (Margriet), Hall, P. (Per), Humpreys, K. (Keith), Czene, K. (Kamila), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Ahmed, S. (Shahana), Ghoussaini, M. (Maya), Pharoah, P.D.P. (Paul), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Jakubowska, A. (Anna), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Złowocka, E. (Elzbieta), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Hou, M.-F. (Ming-Feng), Orr, N. (Nick), Schoemaker, M. (Minouk), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Trentham-Dietz, A. (Amy), Newcomb, P. (Polly), Titus, L. (Linda), Egan, K.M. (Kathleen), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Humphreys, M.K. (Manjeet), Morrison, J. (Jonathan), Chang-Claude, J. (Jenny), Easton, D.F. (Douglas), Dunning, A.M. (Alison), Hein, R. (Rebecca), Maranian, M. (Melanie), Hopper, J.L. (John), Kapuscinski, M.K. (Miroslaw), Southey, M.C. (Melissa), Park, D.J. (Daniel), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Hogervorst, F.B.L. (Frans), Bueno-de-Mesquit, H.B. (Bas), Muir, K.R. (Kenneth), Lophatananon, A. (Artitaya), Rattanamongkongul, S. (Suthee), Puttawibul, P. (Puttisak), Fasching, P.A. (Peter), Hein, A. (Alexander), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Fletcher, O. (Olivia), Johnson, N. (Nichola), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Marmee, F. (Frederick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Guénel, P. (Pascal), Cordina-Duverger, E. (Emilie), Menegaux, F. (Florence), Truong, T. (Thérèse), Bojesen, S.E. (Stig), Nordestgaard, B.G. (Børge), Flyger, H. (Henrik), Milne, R.L. (Roger), Perez, J.I.A. (Jose Ignacio Arias), Zamora, M.P. (Pilar), Benítez, J. (Javier), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Bernstein, L. (Leslie), Clarke, C.A. (Christina), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Rahman, N. (Nazneen), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Meindl, A. (Alfons), Schott, S. (Sarah), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Brauch, H. (Hiltrud), Hamann, U. (Ute), Ko, Y-D. (Yon-Dschun), Wang-Gohrke, S. (Shan), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Aittomäki, K. (Kristiina), Blomqvist, C. (Carl), Bogdanova, N.V. (Natalia), Zalutsky, I.V. (Iosif), Antonenkova, N.N. (Natalia), Bermisheva, M. (Marina), Prokovieva, D. (Darya), Farahtdinova, A. (Albina), Khusnutdinova, E.K. (Elza), Lindblom, A. (Annika), Margolin, S. (Sara), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Lambrechts, D. (Diether), Zhao, H. (Hui), Neven, P. (Patrick), Wildiers, H. (Hans), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Couch, F.J. (Fergus), Olson, J.E. (Janet), Wang, X. (Xianshu), Fredericksen, Z. (Zachary), Giles, G.G. (Graham), Baglietto, L. (Laura), McLean, C.A. (Catriona Ann), Severi, G. (Gianluca), Offit, K. (Kenneth), Robson, M. (Mark), Gaudet, M.M. (Mia), Vijai, J. (Joseph), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børresen-Dale, A.L. (Anne Lise), John, E.M. (Esther), Miron, A. (Alexander), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Figueroa, J.D. (Jonine), García-Closas, M. (Montserrat), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Hooning, M.J. (Maartje), Martens, J.W.M. (John), Seynaeve, C.M. (Caroline), Collée, J.M. (Margriet), Hall, P. (Per), Humpreys, K. (Keith), Czene, K. (Kamila), Liu, J. (Jianjun), Cox, A. (Angela), Brock, I.W. (Ian), Cross, S.S. (Simon), Reed, M.W.R. (Malcolm), Ahmed, S. (Shahana), Ghoussaini, M. (Maya), Pharoah, P.D.P. (Paul), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Jakubowska, A. (Anna), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Złowocka, E. (Elzbieta), Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Hsu, H.-M. (Huan-Ming), Hou, M.-F. (Ming-Feng), Orr, N. (Nick), Schoemaker, M. (Minouk), Ashworth, A. (Alan), Swerdlow, A.J. (Anthony ), Trentham-Dietz, A. (Amy), Newcomb, P. (Polly), Titus, L. (Linda), Egan, K.M. (Kathleen), Chenevix-Trench, G. (Georgia), Antoniou, A.C. (Antonis), Humphreys, M.K. (Manjeet), Morrison, J. (Jonathan), Chang-Claude, J. (Jenny), Easton, D.F. (Douglas), and Dunning, A.M. (Alison)
Abstract: The 6q25.1 locus was first identified via a genome-wide association study (GWAS) in Chinese women and marked by single nucleotide polymorphism (SNP) rs2046210, approximately 180 Kb upstream of ESR1. There have been conflicting reports about the association of this locus with breast cancer in Europeans, and a GWAS in Europeans identified a different SNP, tagged here by rs12662670. We examined the associations of both SNPs in up to 61,689 cases and 58,822 controls from forty-four studies collaborating in the Breast Cancer Association Consortium, of which four studies were of Asian and 39 of European descent. Logistic regression was used to estimate odds ratios (OR) and 95% confidence intervals (CI). Case-only analyses were used to compare SNP effects in Estrogen Receptor positive (ER+) versus negative (ER-) tumours. Models including both SNPs were fitted to investigate whether the SNP effec
Published: 2012
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9. Confirmation of 5p12 as a susceptibility locus for progesterone-receptor- positive, lower grade breast cancer

Author: Milne, R.L. (Roger), Goode, E.L. (Ellen), García-Closas, M. (Montserrat), Couch, F.J. (Fergus), Severi, G. (Gianluca), Hein, R. (Rebecca), Fredericksen, Z. (Zachary), Malats, N. (Núria), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Benítez, J. (Javier), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Cox, A. (Angela), Brock, I.W. (Ian), Elliot, K.S. (Katherine), Cross, S.S. (Simon), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Rahman, N. (Nazneen), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Huang, C.-S. (Chiun-Sheng), Hou, M.-F. (Ming-Feng), Nordestgaard, B.G. (Børge), Bojesen, S.E. (Stig), Lanng, C. (Charlotte), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børrensen-Dale, A.-L. (Anne-Lise), Hopper, J.L. (John), Dite, G.S. (Gillian), Apicella, C. (Carmel), Southey, M.C. (Melissa), Lambrechts, D. (Diether), Yesilyurt, B.T. (Betül), Floris, O.A.M., Leunen, K., Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Chang-Claude, J. (Jenny), Wang-Gohrke, S. (Shan), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Giles, G.G. (Graham), Baglietto, L. (Laura), John, E.M. (Esther), Miron, A. (Alexander), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Figueroa, J.D. (Jonine), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Zalutsky, I.V. (Iosif), Rogov, Y.I. (Yuri), Fasching, P.A. (Peter), Bayer, T. (T.), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Meindl, A. (Alfons), Heil, J. (Joerg), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Thomas, G. (Gilles), Hoover, R.N. (Robert), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Tollenaar, R.A.E.M. (Rob), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Pooley, K.A. (Karen), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Hunter, D. (David), Hankinson, S.E. (Susan), Kraft, P. (Peter), Lindstrom, S. (Stephen), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Hamann, U. (Ute), Harth, V. (Volker), Justenhoven, C. (Christina), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Oldenburg, R.A. (Rogier), Tilanus-Linthorst, M.M.A. (Madeleine), Khusnutdinova, E.K. (Elza), Bermisheva, M. (Marina), Prokofieva, D. (Darya), Farahtdinova, A. (Albina), Olson, J.E. (Janet), Wang, X. (Xing), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Chenevix-Trench, G. (Georgia), Easton, D.F. (Douglas), Milne, R.L. (Roger), Goode, E.L. (Ellen), García-Closas, M. (Montserrat), Couch, F.J. (Fergus), Severi, G. (Gianluca), Hein, R. (Rebecca), Fredericksen, Z. (Zachary), Malats, N. (Núria), Zamora, M.P. (Pilar), Perez, J.I.A. (Jose Ignacio Arias), Benítez, J. (Javier), Dörk, T. (Thilo), Schürmann, P. (Peter), Karstens, J.H. (Johann), Hillemanns, P. (Peter), Cox, A. (Angela), Brock, I.W. (Ian), Elliot, K.S. (Katherine), Cross, S.S. (Simon), Seal, S. (Sheila), Turnbull, C. (Clare), Renwick, A. (Anthony), Rahman, N. (Nazneen), Shen, C-Y. (Chen-Yang), Yu, J-C. (Jyh-Cherng), Huang, C.-S. (Chiun-Sheng), Hou, M.-F. (Ming-Feng), Nordestgaard, B.G. (Børge), Bojesen, S.E. (Stig), Lanng, C. (Charlotte), Alnæs, G.G. (Grethe), Kristensen, V. (Vessela), Børrensen-Dale, A.-L. (Anne-Lise), Hopper, J.L. (John), Dite, G.S. (Gillian), Apicella, C. (Carmel), Southey, M.C. (Melissa), Lambrechts, D. (Diether), Yesilyurt, B.T. (Betül), Floris, O.A.M., Leunen, K., Sangrajrang, S. (Suleeporn), Gaborieau, V. (Valerie), Brennan, P. (Paul), McKay, J.D. (James), Chang-Claude, J. (Jenny), Wang-Gohrke, S. (Shan), Radice, P. (Paolo), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Barile, M. (Monica), Giles, G.G. (Graham), Baglietto, L. (Laura), John, E.M. (Esther), Miron, A. (Alexander), Chanock, S.J. (Stephen), Lissowska, J. (Jolanta), Sherman, M.E. (Mark), Figueroa, J.D. (Jonine), Bogdanova, N.V. (Natalia), Antonenkova, N.N. (Natalia), Zalutsky, I.V. (Iosif), Rogov, Y.I. (Yuri), Fasching, P.A. (Peter), Bayer, T. (T.), Ekici, A.B. (Arif), Beckmann, M.W. (Matthias), Brenner, H. (Hermann), Müller, H. (Heike), Arndt, V. (Volker), Stegmaier, C. (Christa), Andrulis, I.L. (Irene), Knight, J.A. (Julia), Glendon, G. (Gord), Mulligan, A.M. (Anna Marie), Mannermaa, A. (Arto), Kataja, V. (Vesa), Kosma, V-M. (Veli-Matti), Hartikainen, J. (Jaana), Meindl, A. (Alfons), Heil, J. (Joerg), Bartram, C.R. (Claus), Schmutzler, R.K. (Rita), Thomas, G. (Gilles), Hoover, R.N. (Robert), Fletcher, O. (Olivia), Gibson, L.J. (Lorna), Santos Silva, I. (Isabel) dos, Peto, J. (Julian), Nickels, S. (Stefan), Flesch-Janys, D. (Dieter), Anton-Culver, H. (Hoda), Ziogas, A. (Argyrios), Sawyer, E.J. (Elinor), Tomlinson, I.P. (Ian), Kerin, M. (Michael), Miller, N. (Nicola), Schmidt, M.K. (Marjanka), Broeks, A. (Annegien), Veer, L.J. (Laura) van 't, Tollenaar, R.A.E.M. (Rob), Pharoah, P.D.P. (Paul), Dunning, A.M. (Alison), Pooley, K.A. (Karen), Marme, F. (Federick), Schneeweiss, A. (Andreas), Sohn, C. (Christof), Burwinkel, B. (Barbara), Jakubowska, A. (Anna), Lubinski, J. (Jan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Kang, D. (Daehee), Yoo, K-Y. (Keun-Young), Noh, D-Y. (Dong-Young), Ahn, S.-H. (Sei-Hyun), Hunter, D. (David), Hankinson, S.E. (Susan), Kraft, P. (Peter), Lindstrom, S. (Stephen), Chen, X. (Xiaoqing), Beesley, J. (Jonathan), Hamann, U. (Ute), Harth, V. (Volker), Justenhoven, C. (Christina), Winqvist, R. (Robert), Pykäs, K. (Katri), Jukkola-Vuorinen, A. (Arja), Grip, M. (Mervi), Hooning, M.J. (Maartje), Hollestelle, A. (Antoinette), Oldenburg, R.A. (Rogier), Tilanus-Linthorst, M.M.A. (Madeleine), Khusnutdinova, E.K. (Elza), Bermisheva, M. (Marina), Prokofieva, D. (Darya), Farahtdinova, A. (Albina), Olson, J.E. (Janet), Wang, X. (Xing), Humphreys, M.K. (Manjeet), Wang, Q. (Qing), Chenevix-Trench, G. (Georgia), and Easton, D.F. (Douglas)
Abstract: Background: The single-nucleotide polymorphism (SNP) 5p12-rs10941679 has been found to be associated with risk of breast cancer, particularly estrogen receptor (ER)-positive disease. We aimed to further explore this association overall, and by tumor histopathology, in the Breast Cancer Association Consortium. Methods: Data were combined from 37 studies, including 40,972 invasive cases, 1,398 cases of ductal carcinoma in situ (DCIS), and 46,334 controls, all of white European ancestry, as well as 3,007 invasive cases and 2,337 controls of Asian ancestry. Associations overall and by tumor invasiveness and histopathology were assessed using logistic regression. Results: For white Europeans, the per-allele OR associated with 5p12-rs10941679 was 1.11 (95% CI = 1.08-1.14, P = 7 × 10 -18) for invasive breast cancer and 1.10 (95% CI = 1.01-1.21, P = 0.03) for DCIS. For Asian women, the estimated OR for invasive disease was similar (OR = 1.07, 95%CI = 0.99-1.15, P = 0.09). Further analyses suggested that the association in white Europeans was largely limited to progesterone receptor (PR)- positive disease (per-allele OR = 1.16, 95% CI = 1.12-1.20, P = 1 × 10 -18 vs. OR = 1.03, 95% CI = 0.99-1.07, P
Published: 2011
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10. Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

Author: Maxwell, C.A. (Christopher), Benitez, J. (Javier), Gómez-Baldó, L. (Laia), Osorio, A. (Ana), Bonifaci, N. (Núria), Fernández-Ramires, R. (Ricardo), Costes, S.V. (Sylvain), Guinó, E. (Elisabet), Chen, H. (Helen), Evans, G.J.R. (Gareth), Mohan, P. (Pooja), Català, I. (Isabel), Petit, A. (Anna), Aguilar, H. (Helena), Villanueva, A. (Alberto), Aytes, A. (Alvaro), Serra-Musach, J. (Jordi), Rennert, G. (Gad), Lejbkowicz, F. (Flavio), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Ripamonti, C.B. (Carla), Bonnani, B. (Bernardo), Viel, A. (Alessandra), Allavena, A. (Anna), Bernard, L. (Loris), Radice, P. (Paolo), Friedman, E. (Eitan), Kaufman, B. (Bella), Laitman, Y. (Yael), Dubrovsky, M. (Maya), Milgrom, R. (Roni), Jakubowska, A. (Anna), Cybulski, C. (Cezary), Górski, B. (Bohdan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Sukiennicki, G. (Grzegorz), Lubinski, J. (Jan), Shugart, Y.Y., Domchek, S.M. (Susan), Letrero, R. (Richard), Hogervorst, F.B.L. (Frans), Rookus, M.A. (Matti), Collée, J.M. (Margriet), Devilee, P. (Peter), Ligtenberg, M.J. (Marjolijn), Luijt, R.B. (Rob) van der, Aalfs, C.M. (Cora), Waisfisz, Q. (Quinten), Wijnen, J.T. (Juul), Roozendaal, C.E.P. (Cornelis) van, Easton, D.F. (Douglas), Peock, S. (Susan), Cook, M. (Margaret), Oliver, C.T. (Clare), Frost, D. (Debra), harrington, P. (Patricia), Lalloo, F. (Fiona), Eeles, R. (Rosalind), Izatt, L. (Louise), Chu, C. (Chengbin), Eccles, D. (Diana), Douglas, F. (Fiona), Brewer, C. (Carole), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Couch, F.J. (Fergus), Lindor, N.M. (Noralane), Wang, X. (Xing), Godwin, A.K. (Andrew), Caligo, M.A. (Maria), Lombardi, G. (Grazia), Loman, N. (Niklas), Karlsson, P. (Per), Ehrencrona, H. (Hans), Wachenfeldt, A. (Anna) von, Barkardottir, R.B. (Rosa), Hamann, U. (Ute), Rashid, M.U. (Muhammad), Lasa, A. (Adriana), Caldes, T. (Trinidad), Andres, R. (Raquel), Schmitt, M. (Michael), Assmann, V. (Volker), Stevens, K. (Kristen), Offit, K. (Kenneth), Curado, J. (João), Tilgner, H. (Hagen), Guigó, R. (Roderic), Aiza, G. (Gemma), Brunet, J. (Joan), Castellsagué, J. (Joan), Martrat, G. (Griselda), Urruticoechea, A. (Ander), Blanco, I. (Ignacio), Tihomirova, L. (Laima), Goldgar, D. (David), Buys, S.S. (Saundra), John, E.M. (Esther), Miron, A. (Alexander), Southey, M.C. (Melissa), Daly, M.J. (Mark), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Meindl, A. (Alfons), Arnold, N. (Norbert), Deissler, H. (Helmut), Varon-Mateeva, R. (Raymonda), Sutter, C. (Christian), Niederacher, D. (Dieter), Imyamitov, E. (Evgeny), Sinilnikova, O. (Olga), Stoppa-Lyonne, D. (Dominique), Mazoyer, S. (Sylvie), Verny-Pierre, C. (Carole), Castera, L. (Laurent), Pauw, A. (Antoine) de, Bignon, Y.-J. (Yves-Jean), Uhrhammer, N. (Nancy), Peyrat, J.-P., Vennin, P. (Philippe), Ferrer, S.F., Collonge-Rame, M.-A., Mortemousque, I. (Isabelle), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Healey, S. (Sue), Barcellos-Hoff, M.H., Vidal, M. (Marc), Gruber, S.B. (Stephen), Lázaro, C. (Conxi), Capellá, G. (Gabriel), McGuffog, L. (Lesley), Nathanson, K.L. (Katherine), Antoniou, A.C. (Antonis), Chenevix-Trench, G. (Georgia), Fleisch, M.C. (Markus), Moreno, V. (Víctor), Pujana, M.A., Weber, B.L. (Barbara), Maxwell, C.A. (Christopher), Benitez, J. (Javier), Gómez-Baldó, L. (Laia), Osorio, A. (Ana), Bonifaci, N. (Núria), Fernández-Ramires, R. (Ricardo), Costes, S.V. (Sylvain), Guinó, E. (Elisabet), Chen, H. (Helen), Evans, G.J.R. (Gareth), Mohan, P. (Pooja), Català, I. (Isabel), Petit, A. (Anna), Aguilar, H. (Helena), Villanueva, A. (Alberto), Aytes, A. (Alvaro), Serra-Musach, J. (Jordi), Rennert, G. (Gad), Lejbkowicz, F. (Flavio), Peterlongo, P. (Paolo), Manoukian, S. (Siranoush), Peissel, B. (Bernard), Ripamonti, C.B. (Carla), Bonnani, B. (Bernardo), Viel, A. (Alessandra), Allavena, A. (Anna), Bernard, L. (Loris), Radice, P. (Paolo), Friedman, E. (Eitan), Kaufman, B. (Bella), Laitman, Y. (Yael), Dubrovsky, M. (Maya), Milgrom, R. (Roni), Jakubowska, A. (Anna), Cybulski, C. (Cezary), Górski, B. (Bohdan), Jaworska, K. (Katarzyna), Durda, K. (Katarzyna), Sukiennicki, G. (Grzegorz), Lubinski, J. (Jan), Shugart, Y.Y., Domchek, S.M. (Susan), Letrero, R. (Richard), Hogervorst, F.B.L. (Frans), Rookus, M.A. (Matti), Collée, J.M. (Margriet), Devilee, P. (Peter), Ligtenberg, M.J. (Marjolijn), Luijt, R.B. (Rob) van der, Aalfs, C.M. (Cora), Waisfisz, Q. (Quinten), Wijnen, J.T. (Juul), Roozendaal, C.E.P. (Cornelis) van, Easton, D.F. (Douglas), Peock, S. (Susan), Cook, M. (Margaret), Oliver, C.T. (Clare), Frost, D. (Debra), harrington, P. (Patricia), Lalloo, F. (Fiona), Eeles, R. (Rosalind), Izatt, L. (Louise), Chu, C. (Chengbin), Eccles, D. (Diana), Douglas, F. (Fiona), Brewer, C. (Carole), Nevanlinna, H. (Heli), Heikinen, T. (Tuomas), Couch, F.J. (Fergus), Lindor, N.M. (Noralane), Wang, X. (Xing), Godwin, A.K. (Andrew), Caligo, M.A. (Maria), Lombardi, G. (Grazia), Loman, N. (Niklas), Karlsson, P. (Per), Ehrencrona, H. (Hans), Wachenfeldt, A. (Anna) von, Barkardottir, R.B. (Rosa), Hamann, U. (Ute), Rashid, M.U. (Muhammad), Lasa, A. (Adriana), Caldes, T. (Trinidad), Andres, R. (Raquel), Schmitt, M. (Michael), Assmann, V. (Volker), Stevens, K. (Kristen), Offit, K. (Kenneth), Curado, J. (João), Tilgner, H. (Hagen), Guigó, R. (Roderic), Aiza, G. (Gemma), Brunet, J. (Joan), Castellsagué, J. (Joan), Martrat, G. (Griselda), Urruticoechea, A. (Ander), Blanco, I. (Ignacio), Tihomirova, L. (Laima), Goldgar, D. (David), Buys, S.S. (Saundra), John, E.M. (Esther), Miron, A. (Alexander), Southey, M.C. (Melissa), Daly, M.J. (Mark), Schmutzler, R.K. (Rita), Wapenschmidt, B. (Barbara), Meindl, A. (Alfons), Arnold, N. (Norbert), Deissler, H. (Helmut), Varon-Mateeva, R. (Raymonda), Sutter, C. (Christian), Niederacher, D. (Dieter), Imyamitov, E. (Evgeny), Sinilnikova, O. (Olga), Stoppa-Lyonne, D. (Dominique), Mazoyer, S. (Sylvie), Verny-Pierre, C. (Carole), Castera, L. (Laurent), Pauw, A. (Antoine) de, Bignon, Y.-J. (Yves-Jean), Uhrhammer, N. (Nancy), Peyrat, J.-P., Vennin, P. (Philippe), Ferrer, S.F., Collonge-Rame, M.-A., Mortemousque, I. (Isabelle), Spurdle, A.B. (Amanda), Beesley, J. (Jonathan), Healey, S. (Sue), Barcellos-Hoff, M.H., Vidal, M. (Marc), Gruber, S.B. (Stephen), Lázaro, C. (Conxi), Capellá, G. (Gabriel), McGuffog, L. (Lesley), Nathanson, K.L. (Katherine), Antoniou, A.C. (Antonis), Chenevix-Trench, G. (Georgia), Fleisch, M.C. (Markus), Moreno, V. (Víctor), Pujana, M.A., and Weber, B.L. (Barbara)
Abstract: Differentiated mammary epithelium shows apicobasal polarity, and loss of tissue organization is an early hallmark of breast carcinogenesis. In BRCA1 mutation carriers, accumulation of stem and progenitor cells in normal breast tissue and increased risk of developing tumors of basal-like type suggest that BRCA1 regulates stem/progenitor cell proliferation and differentiation. However, the function of BRCA1 in this process and its link to carcinogenesis remain unknown. Here we depict a molecular mechanism involving BRCA1 and RHAMM that regulates apicobasal polarity and, when perturbed, may increase risk of breast cancer. Starting from complementary genetic analyses across families and populations, we identified common genetic variation at the low-penetrance susceptibility HMMR locus (encoding for RHAMM) that modifies breast cancer risk among BRCA1, but probably not BRCA2, mutation carriers: n = 7,584, weighted hazard ratio (wHR) = 1.09 (95% CI 1.02-1.16), ptrend= 0.017; and n = 3,965,wHR = 1.04 (95% CI 0.94-1.16), ptrend= 0.43; respectively. Subsequently, studies of MCF10A apicobasal polarization revealed a central role for BRCA1 and RHAMM, together with AURKA and TPX2, in essential reorganization of microtubule
Published: 2011
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1. PALB2, CHEK2 and ATM rare variants and cancer risk:data from COGS

2. No clinical utility of KRAS variant rs61764370 for ovarian or breast cancer

3. Fine-scale mapping of the 5q11.2 breast cancer locus reveals at least three independent risk variants regulating MAP3K1

4. Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer

5. Genome-Wide Association Study in BRCA1 Mutation Carriers Identifies Novel Loci Associated with Breast and Ovarian Cancer Risk

6. A nonsynonymous polymorphism in IRS1 modifies risk of developing breast and ovarian cancers in BRCA1 and ovarian cancer in BRCA2 mutation carriers

7. Common variants at the 19p13.1 and ZNF365 loci are associated with ER subtypes of breast cancer and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers

8. Comparison of 6q25 breast cancer hits from Asian and European genome wide association studies in the Breast Cancer Association consortium (BCAC)

9. Confirmation of 5p12 as a susceptibility locus for progesterone-receptor- positive, lower grade breast cancer

10. Interplay between BRCA1 and RHAMM regulates epithelial apicobasal polarization and may influence risk of breast cancer

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