11q13 is a susceptibility locus for hormone receptor positive breast cancer.

11q13 is a susceptibility locus for hormone receptor positive breast cancer.
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DOI:
10.1002/humu.22089
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发表时间:
2012-07
期刊:
影响因子:
3.9
通讯作者:
Brauch, Hiltrud
Brauch, Hiltrud
中科院分区:
医学2区
文献类型:
--
作者:
Lambrechts, Diether;Truong, Therese;Justenhoven, Christina;Humphreys, Manjeet K.;Wang, Jean;Hopper, John L.;Dite, Gillian S.;Apicella, Carmel;Southey, Melissa C.;Schmidt, Marjanka K.;Broeks, Annegien;Cornelissen, Sten;van Hien, Richard;Sawyer, Elinor;Tomlinson, Ian;Kerin, Michael;Miller, Nicola;Milne, Roger L.;Pilar Zamora, M.;Arias Perez, Jose Ignacio;Benitez, Javier;Hamann, Ute;Ko, Yon-Dschun;Bruening, Thomas;Chang-Claude, Jenny;Eilber, Ursel;Hein, Rebecca;Nickels, Stefan;Flesch-Janys, Dieter;Wang-Gohrke, Shan;John, Esther M.;Miron, Alexander;Winqvist, Robert;Pylkas, Katri;Jukkola-Vuorinen, Arja;Grip, Mervi;Chenevix-Trench, Georgia;Beesley, Jonathan;Chen, Xiaoqing;Menegaux, Florence;Cordina-Duverger, Emilie;Shen, Chen-Yang;Yu, Jyh-Cherng;Wu, Pei-Ei;Hou, Ming-Feng;Andrulis, Irene L.;Selander, Teresa;Glendon, Gord;Mulligan, Anna Marie;Anton-Culver, Hoda;Ziogas, Argyrios;Muir, Kenneth R.;Lophatananon, Artitaya;Rattanamongkongul, Suthee;Puttawibul, Puttisak;Jones, Michael;Orr, Nicholas;Ashworth, Alan;Swerdlow, Anthony;Severi, Gianluca;Baglietto, Laura;Giles, Graham;Southey, Melissa;Marme, Federik;Schneeweiss, Andreas;Sohn, Christof;Burwinkel, Barbara;Yesilyurt, Betul T.;Neven, Patrick;Paridaens, Robert;Wildiers, Hans;Brenner, Hermann;Mueller, Heiko;Arndt, Volker;Stegmaier, Christa;Meindl, Alfons;Schott, Sarah;Bartram, Claus R.;Schmutzler, Rita K.;Cox, Angela;Brock, Ian W.;Elliott, Graeme;Cross, Simon S.;Fasching, Peter A.;Schulz-Wendtland, Ruediger;Ekici, Arif B.;Beckmann, Matthias W.;Fletcher, Olivia;Johnson, Nichola;Silva, Isabel dos Santos;Peto, Julian;Nevanlinna, Heli;Muranen, Taru A.;Aittomaki, Kristiina;Blomqvist, Carl;Doerk, Thilo;Schuermann, Peter;Bremer, Michael;Hillemanns, Peter;Bogdanova, Natalia V.;Antonenkova, Natalia N.;Rogov, Yuri I.;Karstens, Johann H.;Khusnutdinova, Elza;Bermisheva, Marina;Prokofieva, Darya;Gancev, Shamil;Jakubowska, Anna;Lubinski, Jan;Jaworska, Katarzyna;Durda, Katarzyna;Nordestgaard, Borge G.;Bojesen, Stig E.;Lanng, Charlotte;Mannermaa, Arto;Kataja, Vesa;Kosma, Veli-Matti;Hartikainen, Jaana M.;Radice, Paolo;Peterlongo, Paolo;Manoukian, Siranoush;Bernard, Loris;Couch, Fergus J.;Olson, Janet E.;Wang, Xianshu;Fredericksen, Zachary;Alnaes, Grethe Grenaker;Kristensen, Vessela;Borresen-Dale, Anne-Lise;Devilee, Peter;Tollenaar, Robert A. E. M.;Seynaeve, Caroline M.;Hooning, Maartje J.;Garcia-Closas, Montserrat;Chanock, Stephen J.;Lissowska, Jolanta;Sherman, Mark E.;Hall, Per;Liu, Jianjun;Czene, Kamila;Kang, Daehee;Yoo, Keun-Young;Noh, Dong-Young;Lindblom, Annika;Margolin, Sara;Dunning, Alison M.;Pharoah, Paul D. P.;Easton, Douglas F.;Guenel, Pascal;Brauch, Hiltrud

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最近的一项两阶段全基因组关联研究 (GWAS) 在 9、10 和 11 号染色体上确定了 5 个新的乳腺癌易感位点。为了提供与这些位点相关的相对风险的更可靠估计并研究乳腺癌亚型可能的异质性,我们对变异 rs2380205、rs1011970、rs704010、rs614367 进行了基因分型,乳腺癌协会联盟 (BCAC) 的 39 项研究中发现了 rs10995190,涉及 49,608 例病例和 48,772 名对照,主要是欧洲血统。其中四个变体显示出明确的关联证据(P ≤ 3 × 10−9),而 rs2380205 则观察到微弱的证据(P = 0.06)。最有力的证据来自位于 11q13 的 rs614367(每个等位基因优势比 1.21,P = 4 × 10−39)。 rs614367 的关联对于雌激素受体 (ER) 阳性疾病具有特异性,对于 ER 加孕激素受体 (PR) 阳性乳腺癌的关联最强,而其他三个位点的关联并没有因肿瘤亚型而异。
A recent two-stage genome-wide association study (GWAS) identified five novel breast cancer susceptibility loci on chromosomes 9, 10 and 11. To provide more reliable estimates of the relative risk associated with these loci and investigate possible heterogeneity by subtype of breast cancer, we genotyped the variants rs2380205, rs1011970, rs704010, rs614367, rs10995190 in 39 studies from the Breast Cancer Association Consortium (BCAC), involving 49,608 cases and 48,772 controls of predominantly European ancestry. Four of the variants showed clear evidence of association (P ≤ 3 × 10−9) and weak evidence was observed for rs2380205 (P = 0.06). The strongest evidence was obtained for rs614367, located on 11q13 (per-allele odds ratio 1.21, P = 4 × 10−39). The association for rs614367 was specific to estrogen receptor (ER)-positive disease and strongest for ER plus progesterone receptor (PR)-positive breast cancer, whereas the associations for the other three loci did not differ by tumor subtype.
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