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Newly discovered breast cancer susceptibility loci on 3p24 and 17q23.2

  1. Author:
    Ahmed, S.
    Thomas, G.
    Ghoussaini, M.
    Healey, C. S.
    Humphreys, M. K.
    Platte, R.
    Morrison, J.
    Maranian, M.
    Pooley, K. A.
    Luben, R.
    Eccles, D.
    Evans, D. G.
    Fletcher, O.
    Johnson, N.
    Silva, I. D.
    Peto, J.
    Stratton, M. R.
    Rahman, N.

  2. Author Address

    Humphreys, Manjeet K.; Morrison, Jonathan, Pooley, Karen A.; Pharoah, Paul D. P.; Easton, Douglas F.; SEARCH] Univ Cambridge, Dept Publ Hlth & Primary Care, CR UK Genet Epidemiol Unit, Cambridge, England. [Ahmed, Shahana, Ghoussaini, Maya, Healey, Catherine S.; Platte, Radka, Maranian, Melanie, Ponder, Bruce A. J.; Dunning, Alison M.; SEARCH] Univ Cambridge, Dept Oncol, Cambridge, England. [Thomas, Gilles, Jacobs, Kevin, Ziegler, Regina G.; Garcia-Closas, Montserrat, Sigurdson, Alice, Doody, Michele, Bhatti, Parveen, Hoover, Robert N.] NCI, Div Canc Epidemiol & Genet, NIH, US Dept HHS, Bethesda, MD USA. [Luben, Robert] Univ Cambridge, EPIC, Dept Publ Hlth & Primary Care, Cambridge, England. [Eccles, Diana] Princess Anne Hosp, Wessex Clin Genet Serv, Southampton, Hants, England. [Evans, D. Gareth] St Marys Hosp, Reg Genet Serv, Manchester M13 0JH, Lancs, England. [Fletcher, Olivia, Johnson, Nichola] Inst Canc Res, Breakthrough Breast Canc Res Ctr, London SW3 6JB, England. [Fletcher, Olivia, Silva, Isabel dos Santos, Peto, Julian] London Sch Hyg & Trop Med, London WC1, England. [Stratton, Michael R.] Wellcome Trust Sanger Inst, Canc Genome Project, Cambridge, England. [Jacobs, Kevin] Bioinformed Consulting Serv, Gaithersburg, MD USA. [Jacobs, Kevin] NCI, Core Genotyping Facil, Adv Technol Program, SAIC Frederick Inc, Frederick, MD 21701 USA. [Prentice, Ross, Anderson, Garnet L.] Fred Hutchinson Canc Res Ctr, Seattle, WA 98104 USA. [Rajkovic, Aleksandar] Baylor Coll Med, Dept Obstet & Gynecol, Houston, TX 77030 USA. [Curb, J. David] Univ Hawaii, John A Burns Sch Med, Dept Geriatr Med, Pacific Hlth Res Inst, Honolulu, HI 96822 USA. [Berg, Christine D.] NCI, Canc Prevent Div, NIH, US Dept HHS, Bethesda, MD 20892 USA. [Buys, Saundra S.] Univ Utah, Dept Internal Med, Salt Lake City, UT 84112 USA. [McCarty, Catherine A.] Marshfield Clin Res Fdn, Ctr Human Genet, Marshfield, WI USA. [Feigelson, Heather Spencer, Calle, Eugenia E.; Thun, Michael J.; Diver, W. Ryan] Amer Canc Soc, Dept Epidemiol & Surveillance Res, Atlanta, GA 30329 USA. [Bojesen, Stig, Nordestgaard, Borge G.] Copenhagen Univ Hosp, Dept Clin Biochem, Herlev, Denmark. [Bojesen, Stig, Nordestgaard, Borge G.] Copenhagen Univ Hosp, Copenhagen Gen Populat Study, Herlev, Denmark. [Flyger, Henrik] Copenhagen Univ Hosp, Dept Breast Surg, Herlev, Denmark. [Doerk, Thilo, Schuermann, Peter, Hillemanns, Peter, Bogdanova, Natalia V.; Bermisheva, Marina] Hannover Med Sch, Dept Obstet & Gynaecol, D-3000 Hannover, Germany. [Karstens, Johann H.] Hannover Med Sch, Dept Radiat Oncol, D-3000 Hannover, Germany. [Bogdanova, Natalia V.; Antonenkova, Natalia N.; Zalutsky, Iosif V.] NN Alexandrov Res Inst Oncol & Med Radiol, Minsk, Byelarus. [Bermisheva, Marina, Khusnutdinova, Elza] Russian Acad Sci, Ufa Sci Ctr, Inst Biochem & Genet, Ufa 450001, Russia. [Fedorova, Sardana] Russian Acad Med Sci, Yakut Res Ctr, Dept Med Genet, Yakutsk, Russia. [Kang, Daehee, Yoo, Keun-Young, Noh, Dong Young, Ahn, Sei-Hyun] Seoul Natl Univ, Coll Med, Seoul, South Korea. [Devilee, Peter] Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands. [Devilee, Peter] Leiden Univ, Med Ctr, Dept Pathol, Leiden, Netherlands. [van Asperen, Christi J.] Leiden Univ, Med Ctr, Dept Clin Genet, Leiden, Netherlands. [Tollenaar, R. A. E. M.] Leiden Univ, Med Ctr, Dept Surg Oncol, Leiden, Netherlands. [Seynaeve, Caroline] Erasmus MC Daniel Hoed Canc Ctr, Rotterdam Family Canc Clin, Dept Med Oncol, Rotterdam, Netherlands. [Lissowska, Jolanta] M Sklodowska Curie Canc Ctr, Dept Epidemiol & Canc Prevent, Warsaw, Poland. [Lissowska, Jolanta] Inst Oncol, Warsaw, Poland. [Brinton, Louise] NCI, Hormonal & Reprod Epidemiol Branch, Rockville, MD USA. [Peplonska, Beata] Nofer Inst Occupat Med, Dept Occupat & Environm Epidemiol, Lodz, Poland. [Nevanlinna, Heli, Heikkinen, Tuomas] Univ Helsinki, Cent Hosp, Dept Obstet & Gynaecol, Helsinki, Finland. [Aittomaki, Kristiina] Univ Helsinki, Cent Hosp, Dept Clin Genet, Helsinki, Finland. [Blomqvist, Carl] Univ Helsinki, Cent Hosp, Dept Oncol, Helsinki, Finland. [Hopper, John L.; Giles, Grah m G.; Severi, Gianluca, Baglietto, Laura, English, Dallas R.] Univ Melbourne, Ctr Mol Environm Genet & Analyt Epidemiol, Melbourne, Vic, Australia. [Southey, Melissa C.] Univ Melbourne, Dept Pathol, Melbourne, Vic, Australia. [Smith, Letitia, Spurdle, Amanda B.; Beesley, Jonathan, Chenevix-Trench, Georgia, Australian Ovarian Cancer Study] Queensland Inst Med Res, Brisbane, Qld 4006, Australia. [Schmidt, Marjanka K.; Broeks, Annegien, Cornelissen, Sten] Netherlands Canc Inst, Amsterdam, Netherlands. [Milne, Roger L.] Spanish Natl Canc Res Ctr CNIO, Genet & Mol Epidemiol Grp, Madrid, Spain. [Ribas, Gloria, Benitez, Javier] Spanish Natl Canc Res Ctr CNIO, Human Genet Grp, Madrid, Spain. [Gonzalez-Neira, Anna, Benitez, Javier] Spanish Natl Canc Res Ctr CNIO, Natl Genotyping Ctr CEGEN, Human Canc Genet Program, Madrid, Spain. [Schmutzler, Rita K.] Spanish Natl Canc Res Ctr CNIO, Natl Genotyping Ctr CEGEN, Human Canc Genet Program, Madrid, Spain. [Burwinkel, Barbara] German Canc Res Ctr, Mol Epidemiol Grp, D-6900 Heidelberg, Germany. [Burwinkel, Barbara] Univ Heidelberg, Dept Obstet & Gynecol, Heidelberg, Germany. [Bartram, Claus R.] Univ Heidelberg, Inst Human Genet, Heidelberg, Germany. [Meindl, Alfons] Tech Univ Munich, Dept Obstet & Gynaecol, Munich, Germany. [Meindl, Alfons] Dr Margarete Fischer Bosch Inst Clin Pharmacol, D-7000 Stuttgart, Germany. [Brauch, Hiltrud, Justenhoven, Christina, GENICA Consortium] Univ Tubingen, Tubingen, Germany. [Hamann, Ute] Deutsch Krebsforschungszentrum, D-6900 Heidelberg, Germany. [Chang-Claude, Jenny, Hein, Rebecca] German Canc Res Ctr, Div Canc Epidemiol, D-6900 Heidelberg, Germany. [Wang-Gohrke, Shan] Womens Hosp Univ Ulm, Ulm, Germany. [Lindblom, Annika] Karolinska Inst, Dept Mol Med & Surg, S-17176 Stockholm, Sweden. [Margolin, Sara] Karolinska Inst, Dept Pathol & Oncol, S-17176 Stockholm, Sweden. [Mannermaa, Arto, Kosma, Veli-Matti] Univ Kuopio, Pathol & Forens Med & Bioctr Kuopio, Inst Clin Med, FIN-70211 Kuopio, Finland. [Mannermaa, Arto, Kosma, Veli-Matti] Kuopio Univ Hosp, Dept Pathol, SF-70210 Kuopio, Finland. [Kataja, Vesa] Kuopio Univ Hosp, Dept Oncol, SF-70210 Kuopio, Finland. [Kataja, Vesa] Vaasa Cent Hosp, Dept Oncol, Vaasa, Finland. [Olson, Janet E.; Wang, Xianshu, Fredericksen, Zachary, Couch, Fergus] Mayo Clin, Coll Med, Rochester, MN USA. [Giles, Graham G.; Severi, Gianluca, English, Dallas R.] Canc Council Victoria, Canc Epidemiol Ctr, Melbourne, Vic, Australia. [Hankinson, Susan E.; Cox, David G.; Hunter, David J.] Brigham & Womens Hosp, Channing Lab, Boston, MA 02115 USA. [Hankinson, Susan E.; Cox, David G.; Hunter, David J.] Harvard Univ, Sch Med, Boston, MA USA. [Kraft, Peter, Hunter, David J.] Harvard Univ, Sch Publ Hlth, Program Mol & Genet Epidemiol, Boston, MA 02115 USA. [Vatten, Lars J.; Hveem, Kristian] Norwegian Univ Sci & Technol, Dept Publ Hlth, N-7034 Trondheim, Norway. [Kumle, Merethe] Univ Tromso, Inst Community Med, Tromso, Norway. [Alexander, Bruce H.] Univ Minnesota, Sch Publ Hlth, Div Environm Hlth Serv, Minneapolis, MN USA. [Hooning, Maartje J.; Schutte, Mieke] Erasmus Univ, Med Ctr, Rotterdam Family Canc Clin, Dept Med Oncol, Rotterdam, Netherlands. [van den Ouweland, Ans M. W.; Oldenburg, Rogier A.] Erasmus Univ, Med Ctr, Rotterdam Family Canc Clin, Dept Clin Genet, Rotterdam, Netherlands. [Hall, Per, Czene, Kamila] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden. [Liu, Jianjun, Li, Yuqing] Genome Inst Singapore, Singapore, Singapore. [Elliott, Graeme] Univ Sheffield, Sch Med & Biomed Sci, Inst Canc Studies, Sheffield, S Yorkshire, England. [Reed, Malcolm W. R.] Univ Sheffield, Sch Med & Biomed Sci, Acad Unit Surg Oncol, Sheffield, S Yorkshire, England. [Shen, Chen-Yang] Acad Sinica, Inst Biomed Sci, Taipei, Taiwan. [Shen, Chen-Yang] China Med Univ, Grad Inst Environm Sci, Taichong, Taiwan. [Yu, Jyh-Cherng, Hsu, Giu-Cheng] Tri Serv Gen Hosp, Taipei, Taiwan. [Chen, Shou-Tung] Changhua Christian Hosp, Changhua, Taiwan. [Anton-Culver, Hoda, Ziogas, Argyrios] Univ Calif Irvine, Dept Epidemiol, Irvine, CA USA. [Andrulis, Irene L.; Kn ght, Julia A.] Mt Sinai Hosp, Samuel Lunenfeld Res Inst, Toronto, ON M5G 1X5, Canada. [Andrulis, Irene L.] Ontario Familial Breast Canc Registry, Toronto, ON, Canada. [KConFab, Australian Ovarian Cancer Study] Peter MacCallum Canc Ctr, Melbourne, Vic, Australia. [Ponder, Bruce A. J.] Canc Res UK Cambridge Canc Res Inst, Cambridge, England. [Chanock, Stephen J.] NCI, Adv Technol Ctr, Gaithersburg, MD USA. [Rahman, Nazneen] Inst Canc Res, Sect Canc Genet, Surrey, England.
    1. Year: 2009
  2. Journal: Nature Genetics
    1. 41
    2. 5
    3. Pages: 585-590
  4. Type of Article: Article
  1. Abstract:

    Genome-wide association studies (GWAS) have identified seven breast cancer susceptibility loci, but these explain only a small fraction of the familial risk of the disease. Five of these loci were identified through a two-stage GWAS involving 390 familial cases and 364 controls in the first stage, and 3,990 cases and 3,916 controls in the second stage(1). To identify additional loci, we tested over 800 promising associations from this GWAS in a further two stages involving 37,012 cases and 40,069 controls from 33 studies in the CGEMS collaboration and Breast Cancer Association Consortium. We found strong evidence for additional susceptibility loci on 3p (rs4973768: per-allele OR 1.11, 95% CI = 1.08-1.13, P = 4.1 x 10(-23)) and 17q (rs6504950: per-allele OR 0.95, 95% CI = 0.92-0.97, P = 1.4 x 10(-8)). Potential causative genes include SLC4A7 and NEK10 on 3p and COX11 on 17q.

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  2. DOI: 10.1038/ng.354
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