Genome-wide association study identifies five new breast cancer susceptibility loci.
Genome-wide association study identifies five new breast cancer susceptibility loci.
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作者：
乳腺癌是发达国家妇女最常见的癌症。为了确定常见的乳腺癌易感等位基因，我们进行了一项全基因组关联研究，其中对3，659例有乳腺癌家族史的病例和4，897例对照进行了582，886个SNP的基因分型。在第二阶段评估了有希望的关联，包括12，576例病例和12，223例对照。我们在9号、10号和11号染色体上发现了5个新的易感基因座（P = 4.6 × 10−7至P = 3.2 × 10−15）。我们还在6q25.1（rs3757318，P = 2.9 × 10−6），8q24（rs1562430，P = 5.8 × 10−7）和LSP1（rs909116，P = 7.3 × 10−7）区域发现了SNP，这些SNP与风险的相关性比以前报道的更显著。以前确定的乳腺癌易感基因座也被发现在家族性乳腺癌病例的这项研究中显示出比以前基于人群的研究更大的效应量，与疾病的多基因易感性一致。
Breast cancer is the most common cancer in women in developed countries. To identify common breast cancer susceptibility alleles, we conducted a genome-wide association study in which 582,886 SNPs were genotyped in 3,659 cases with a family history of the disease and 4,897 controls. Promising associations were evaluated in a second stage, comprising 12,576 cases and 12,223 controls. We identified five new susceptibility loci, on chromosomes 9, 10 and 11 (P = 4.6 × 10−7 to P = 3.2 × 10−15). We also identified SNPs in the 6q25.1 (rs3757318, P = 2.9 × 10−6), 8q24 (rs1562430, P = 5.8 × 10−7) and LSP1 (rs909116, P = 7.3 × 10−7) regions that showed more significant association with risk than those reported previously. Previously identified breast cancer susceptibility loci were also found to show larger effect sizes in this study of familial breast cancer cases than in previous population-based studies, consistent with polygenic susceptibility to the disease.
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影响因子：
30.8
作者：
Shete S;Hosking FJ;Robertson LB;Dobbins SE;Sanson M;Malmer B;Simon M;Marie Y;Boisselier B;Delattre JY;Hoang-Xuan K;El Hallani S;Idbaih A;Zelenika D;Andersson U;Henriksson R;Bergenheim AT;Feychting M;Lönn S;Ahlbom A;Schramm J;Linnebank M;Hemminki K;Kumar R;Hepworth SJ;Price A;Armstrong G;Liu Y;Gu X;Yu R;Lau C;Schoemaker M;Muir K;Swerdlow A;Lathrop M;Bondy M;Houlston RS
通讯作者：
Houlston RS
影响因子：
30.8
作者：
Stacey, Simon N.;Manolescu, Andrei;Stefansson, Kari
通讯作者：
Stefansson, Kari
影响因子：
3.7
作者：
KARLSEDER, J;ZEILLINGER, R;THEILLET, C
通讯作者：
THEILLET, C
影响因子：
30.8
作者：
Stacey, Simon N.;Sulem, Patrick;Masson, Gisli;Gudjonsson, Sigurjon A.;Thorleifsson, Gudmar;Jakobsdottir, Margret;Sigurdsson, Asgeir;Gudbjartsson, Daniel F.;Sigurgeirsson, Bardur;Benediktsdottir, Kristrun R.;Thorisdottir, Kristin;Ragnarsson, Rafn;Scherer, Dominique;Hemminki, Kari;Rudnai, Peter;Gurzau, Eugene;Koppova, Kvetoslava;Botella-Estrada, Rafael;Soriano, Virtudes;Juberias, Pablo;Saez, Berta;Gilaberte, Yolanda;Fuentelsaz, Victoria;Corredera, Cristina;Grasa, Matilde;Hoiom, Veronica;Lindblom, Annika;Bonenkamp, Johannes J.;van Rossum, Michelle M.;Aben, Katja K. H.;de Vries, Esther;Santinami, Mario;Di Mauro, Maria G.;Maurichi, Andrea;Wendt, Judith;Hochleitner, Pia;Pehamberger, Hubert;Gudmundsson, Julius;Magnusdottir, Droplaug N.;Gretarsdottir, Solveig;Holm, Hilma;Steinthorsdottir, Valgerdur;Frigge, Michael L.;Blondal, Thorarinn;Saemundsdottir, Jona;Bjarnason, Hjordis;Kristjansson, Kristleifur;Bjornsdottir, Gyda;Okamoto, Ichiro;Rivoltini, Licia;Rodolfo, Monica;Kiemeney, Lambertus A.;Hansson, Johan;Nagore, Eduardo;Mayordomo, Jose I.;Kumar, Rajiv;Karagas, Margaret R.;Nelson, Heather H.;Gulcher, Jeffrey R.;Rafnar, Thorunn;Thorsteinsdottir, Unnur;Olafsson, Jon H.;Kong, Augustine;Stefansson, Kari
通讯作者：
Stefansson, Kari
影响因子：
30.8
作者：
Thomas, Gilles;Jacobs, Kevin B.;Kraft, Peter;Yeager, Meredith;Wacholder, Sholom;Cox, David G.;Hankinson, Susan E.;Hutchinson, Amy;Wang, Zhaoming;Yu, Kai;Chatterjee, Nilanjan;Garcia-Closas, Montserrat;Gonzalez-Bosquet, Jesus;Prokunina-Olsson, Ludmila;Orr, Nick;Willett, Walter C.;Colditz, Graham A.;Ziegler, Regina G.;Berg, Christine D.;Buys, Saundra S.;McCarty, Catherine A.;Feigelson, Heather Spencer;Calle, Eugenia E.;Thun, Michael J.;Diver, Ryan;Prentice, Ross;Jackson, Rebecca;Kooperberg, Charles;Chlebowski, Rowan;Lissowska, Jolanta;Peplonska, Beata;Brinton, Louise A.;Sigurdson, Alice;Doody, Michele;Bhatti, Parveen;Alexander, Bruce H.;Buring, Julie;Lee, I-Min;Vatten, Lars J.;Hveem, Kristian;Kumle, Merethe;Hayes, Richard B.;Tucker, Margaret;Gerhard, Daniela S.;Fraumeni, Joseph F., Jr.;Hoover, Robert N.;Chanock, Stephen J.;Hunter, David J.
通讯作者：
Hunter, David J.