Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
Identification of six new susceptibility loci for invasive epithelial ovarian cancer.
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DOI：
10.1038/ng.3185
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发表时间：
2015-02
期刊：
影响因子：
30.8
通讯作者：
Chenevix-Trench, Georgia
中科院分区：
文献类型：
--
作者：
Kuchenbaecker, Karoline B.;Ramus, Susan J.;Tyrer, Jonathan;Lee, Andrew;Shen, Howard C.;Beesley, Jonathan;Lawrenson, Kate;McGuffog, Lesley;Healey, Sue;Lee, Janet M.;Spindler, Tassja J.;Lin, Yvonne G.;Pejovic, Tanja;Bean, Yukie;Li, Qiyuan;Coetzee, Simon;Hazelett, Dennis;Miron, Alexander;Southey, Melissa;Terry, Mary Beth;Goldgar, David E.;Buys, Saundra S.;Janavicius, Ramunas;Dorfling, Cecilia M.;van Rensburg, Elizabeth J.;Neuhausen, Susan L.;Ding, Yuan Chun;Hansen, Thomas V. O.;Jonson, Lars;Gerdes, Anne-Marie;Ejlertsen, Bent;Barrowdale, Daniel;Dennis, Joe;Benitez, Javier;Osorio, Ana;Garcia, Maria Jose;Komenaka, Ian;Weitzel, Jeffrey N.;Ganschow, Pamela;Peterlongo, Paolo;Bernard, Loris;Viel, Alessandra;Bonanni, Bernardo;Peissel, Bernard;Manoukian, Siranoush;Radice, Paolo;Papi, Laura;Ottini, Laura;Fostira, Florentia;Konstantopoulou, Irene;Garber, Judy;Frost, Debra;Perkins, Jo;Platte, Radka;Ellis, Steve;Godwin, Andrew K.;Schmutzler, Rita Katharina;Meindl, Alfons;Engel, Christoph;Sutter, Christian;Sinilnikova, Olga M.;Damiola, Francesca;Mazoyer, Sylvie;Stoppa-Lyonnet, Dominique;Claes, Kathleen;De Leeneer, Kim;Kirk, Judy;Rodriguez, Gustavo C.;Piedmonte, Marion;O'Malley, David M.;de la Hoya, Miguel;Caldes, Trinidad;Aittomaeki, Kristiina;Nevanlinna, Heli;Collee, J. Margriet;Rookus, Matti A.;Oosterwijk, Jan C.;Tihomirova, Laima;Tung, Nadine;Hamann, Ute;Isaccs, Claudine;Tischkowitz, Marc;Imyanitov, Evgeny N.;Caligo, Maria A.;Campbell, Ian G.;Hogervorst, Frans B. L.;Olah, Edith;Diez, Orland;Blanco, Ignacio;Brunet, Joan;Lazaroso, Conxi;Angel Pujana, Miguel;Jakubowska, Anna;Gronwald, Jacek;Lubinski, Jan;Sukiennicki, Grzegorz;Barkardottir, Rosa B.;Plante, Marie;Simard, Jacques;Soucy, Penny;Montagna, Marco;Tognazzo, Silvia;Teixeira, Manuel R.;Pankratz, Vernon S.;Wang, Xianshu;Lindor, Noralane;Szabo, Csilla I.;Kauff, Noah;Vijai, Joseph;Aghajanian, Carol A.;Pfeiler, Georg;Berger, Andreas;Singer, Christian F.;Tea, Muy-Kheng;Phelan, Catherine M.;Greene, Mark H.;Mai, Phuong L.;Rennert, Gad;Mulligan, Anna Marie;Tchatchou, Sandrine;Andrulis, Irene L.;Glendon, Gord;Toland, Amanda Ewart;Jensen, Uffe Birk;Kruse, Torben A.;Thomassen, Mads;Bojesen, Anders;Zidan, Jamal;Friedman, Eitan;Laitman, Yael;Soller, Maria;Liljegren, Annelie;Arver, Brita;Einbeigi, Zakaria;Stenmark-Askmalm, Marie;Olopade, Olufunmilayo I.;Nussbaum, Robert L.;Rebbeck, Timothy R.;Nathanson, Katherine L.;Domchek, Susan M.;Lu, Karen H.;Karlan, Beth Y.;Walsh, Christine;Lester, Jenny;Hein, Alexander;Ekici, Arif B.;Beckmann, Matthias W.;Fasching, Peter A.;Lambrechts, Diether;Van Nieuwenhuysen, Els;Vergote, Ignace;Lambrechts, Sandrina;Dicks, Ed;Doherty, Jennifer A.;Wicklund, Kristine G.;Rossing, Mary Anne;Rudolph, Anja;Chang-Claude, Jenny;Wang-Gohrke, Shan;Eilber, Ursula;Moysich, Kirsten B.;Odunsi, Kunle;Sucheston, Lara;Lele, Shashi;Wilkens, Lynne R.;Goodman, Marc T.;Thompson, Pamela J.;Shvetsov, Yurii B.;Runnebaum, Ingo B.;Duerst, Matthias;Hillemanns, Peter;Doerk, Thilo;Antonenkova, Natalia;Bogdanova, Natalia;Leminen, Arto;Pelttari, Liisa M.;Butzow, Ralf;Modugno, Francesmary;Kelley, Joseph L.;Edwards, Robert P.;Ness, Roberta B.;du Bois, Andreas;Heitz, Florian;Schwaab, Ira;Harter, Philipp;Matsuo, Keitaro;Hosono, Satoyo;Orsulic, Sandra;Jensen, Allan;Kjaer, Susanne Kruger;Hogdall, Estrid;Hasmad, Hanis Nazihah;Azmi, Mat Adenan Noor;Teo, Soo-Hwang;Woo, Yin-Ling;Fridley, Brooke L.;Goode, Ellen L.;Cunningham, Julie M.;Vierkant, Robert A.;Bruinsma, Fiona;Giles, Graham G.;Liang, Dong;Hildebrandt, Michelle A. T.;Wu, Xifeng;Levine, Douglas A.;Bisogna, Maria;Berchuck, Andrew;Iversen, Edwin S.;Schildkraut, Joellen M.;Concannon, Patrick;Weber, Rachel Palmieri;Cramer, Daniel W.;Terry, Kathryn L.;Poole, Elizabeth M.;Tworoger, Shelley S.;Bandera, Elisa V.;Orlow, Irene;Olson, Sara H.;Krakstad, Camilla;Salvesen, Helga B.;Tangen, Ingvild L.;Bjorge, Line;van Altena, Anne M.;Aben, Katja K. H.;Kiemeney, Lambertus A.;Massuger, Leon F. A. G.;Kellar, Melissa;Brooks-Wilson, Angela;Kelemen, Linda E.;Cook, Linda S.;Le, Nhu D.;Cybulski, Cezary;Yang, Hannah;Lissowska, Jolanta;Brinton, Louise A.;Wentzensen, Nicolas;Hogdall, Claus;Lundvall, Lene;Nedergaard, Lotte;Baker, Helen;Song, Honglin;Eccles, Diana;McNeish, Ian;Paul, James;Carty, Karen;Siddiqui, Nadeem;Glasspool, Rosalind;Whittemore, Alice S.;Rothstein, Joseph H.;McGuire, Valerie;Sieh, Weiva;Ji, Bu-Tian;Zheng, Wei;Shu, Xiao-Ou;Gao, Yu-Tang;Rosen, Barry;Risch, Harvey A.;McLaughlin, John R.;Narod, Steven A.;Monteiro, Alvaro N.;Chen, Ann;Lin, Hui-Yi;Permuth-Wey, Jenny;Sellers, Thomas A.;Tsai, Ya-Yu;Chen, Zhihua;Ziogas, Argyrios;Anton-Culver, Hoda;Gentry-Maharaj, Aleksandra;Menon, Usha;Harrington, Patricia;Lee, Alice W.;Wu, Anna H.;Pearce, Celeste L.;Coetzee, Gerry;Pike, Malcolm C.;Dansonka-Mieszkowska, Agnieszka;Timorek, Agnieszka;Rzepecka, Iwona K.;Kupryjanczyk, Jolanta;Freedman, Matt;Noushmehr, Houtan;Easton, Douglas F.;Offit, Kenneth;Couch, Fergus J.;Gayther, Simon;Pharoah, Paul P.;Antoniou, Antonis C.;Chenevix-Trench, Georgia
全基因组关联研究（GWAS）已经鉴定出12个上皮性卵巢癌（EOC）易感等位基因。这些位点的关联模式在高危EOC的brca1和brca2突变携带者中是一致的。在导入1000基因组计划数据后，我们评估了来自15,437例未选择家族史的病例和30,845例对照，以及15,252brca1突变携带者和8,211brca2突变携带者（3,096例卵巢癌患者）的1,100万个遗传变异与EOC风险的相关性，并将结果合并为荟萃分析。这种新的研究设计提高了统计能力，发现了6个新的EOC易感位点。1p36（最近基因WNT4）、4q26 （SYNPO2）、9q34.2 （ABO）和17q11.2 （ATAD5）的变异与EOC风险相关，1p34.3 （RSPO1）和6p22.1 （GPX6）的变异与严重的EOC亚型特异性相关，均p < 5 × 10−8。将这些变异纳入风险评估工具将改善brca1和brca2突变携带者的临床风险预测。
Genome-wide association studies (GWAS) have identified 12 epithelial ovarian cancer (EOC) susceptibility alleles. The pattern of association at these loci is consistent inBRCA1andBRCA2mutation carriers who are at high risk of EOC. After imputation to 1000 Genomes Project data, we assessed associations of 11 million genetic variants with EOC risk from 15,437 cases unselected for family history and 30,845 controls and from 15,252BRCA1mutation carriers and 8,211BRCA2mutation carriers (3,096 with ovarian cancer), and we combined the results in a meta-analysis. This new study design yielded increased statistical power, leading to the discovery of six new EOC susceptibility loci. Variants at 1p36 (nearest gene,WNT4), 4q26 (SYNPO2), 9q34.2 (ABO) and 17q11.2 (ATAD5) were associated with EOC risk, and at 1p34.3 (RSPO1) and 6p22.1 (GPX6) variants were specifically associated with the serous EOC subtype, all withP< 5 × 10−8. Incorporating these variants into risk assessment tools will improve clinical risk predictions forBRCA1andBRCA2mutation carriers.
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来自1,092个人基因组的遗传变异的综合图。
影响因子：
64.8
作者：
通讯作者：
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DOI：
10.1158/1055-9965.epi-11-0888
发表时间：
2012-04
期刊：
Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology
影响因子：
--
作者：
Couch FJ;Gaudet MM;Antoniou AC;Ramus SJ;Kuchenbaecker KB;Soucy P;Beesley J;Chen X;Wang X;Kirchhoff T;McGuffog L;Barrowdale D;Lee A;Healey S;Sinilnikova OM;Andrulis IL;OCGN;Ozcelik H;Mulligan AM;Thomassen M;Gerdes AM;Jensen UB;Skytte AB;Kruse TA;Caligo MA;von Wachenfeldt A;Barbany-Bustinza G;Loman N;Soller M;Ehrencrona H;Karlsson P;SWE-BRCA;Nathanson KL;Rebbeck TR;Domchek SM;Jakubowska A;Lubinski J;Jaworska K;Durda K;Zlowocka E;Huzarski T;Byrski T;Gronwald J;Cybulski C;Górski B;Osorio A;Durán M;Tejada MI;Benitez J;Hamann U;Hogervorst FB;HEBON;van Os TA;van Leeuwen FE;Meijers-Heijboer HE;Wijnen J;Blok MJ;Kets M;Hooning MJ;Oldenburg RA;Ausems MG;Peock S;Frost D;Ellis SD;Platte R;Fineberg E;Evans DG;Jacobs C;Eeles RA;Adlard J;Davidson R;Eccles DM;Cole T;Cook J;Paterson J;Brewer C;Douglas F;Hodgson SV;Morrison PJ;Walker L;Porteous ME;Kennedy MJ;Side LE;EMBRACE;Bove B;Godwin AK;Stoppa-Lyonnet D;GEMO Study Collaborators;Fassy-Colcombet M;Castera L;Cornelis F;Mazoyer S;Léoné M;Boutry-Kryza N;Bressac-de Paillerets B;Caron O;Pujol P;Coupier I;Delnatte C;Akloul L;Lynch HT;Snyder CL;Buys SS;Daly MB;Terry M;Chung WK;John EM;Miron A;Southey MC;Hopper JL;Goldgar DE;Singer CF;Rappaport C;Tea MK;Fink-Retter A;Hansen TV;Nielsen FC;Arason A;Vijai J;Shah S;Sarrel K;Robson ME;Piedmonte M;Phillips K;Basil J;Rubinstein WS;Boggess J;Wakeley K;Ewart-Toland A;Montagna M;Agata S;Imyanitov EN;Isaacs C;Janavicius R;Lazaro C;Blanco I;Feliubadalo L;Brunet J;Gayther SA;Pharoah PP;Odunsi KO;Karlan BY;Walsh CS;Olah E;Teo SH;Ganz PA;Beattie MS;van Rensburg EJ;Dorfling CM;Diez O;Kwong A;Schmutzler RK;Wappenschmidt B;Engel C;Meindl A;Ditsch N;Arnold N;Heidemann S;Niederacher D;Preisler-Adams S;Gadzicki D;Varon-Mateeva R;Deissler H;Gehrig A;Sutter C;Kast K;Fiebig B;Heinritz W;Caldes T;de la Hoya M;Muranen TA;Nevanlinna H;Tischkowitz MD;Spurdle AB;Neuhausen SL;Ding YC;Lindor NM;Fredericksen Z;Pankratz VS;Peterlongo P;Manoukian S;Peissel B;Zaffaroni D;Barile M;Bernard L;Viel A;Giannini G;Varesco L;Radice P;Greene MH;Mai PL;Easton DF;Chenevix-Trench G;kConFab investigators;Offit K;Simard J;Consortium of Investigators of Modifiers of BRCA1/2
通讯作者：
Consortium of Investigators of Modifiers of BRCA1/2
影响因子：
7.3
作者：
Gao J;Aksoy BA;Dogrusoz U;Dresdner G;Gross B;Sumer SO;Sun Y;Jacobsen A;Sinha R;Larsson E;Cerami E;Sander C;Schultz N
通讯作者：
Schultz N
影响因子：
30.8
作者：
通讯作者：
--
影响因子：
64.5
作者：
Hnisz D;Abraham BJ;Lee TI;Lau A;Saint-André V;Sigova AA;Hoke HA;Young RA
通讯作者：
Young RA