Genome-wide association analysis identifies three new breast cancer susceptibility loci

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Ghoussaini, Maya
Fletcher, Olivia
Michailidou, Kyriaki
Turnbull, Clare
Schmidt, Marjanka K
Dicks, Ed
Dennis, Joe
Wang, Qin
Humphreys, Manjeet K
Luccarini, Craig
Baynes, Caroline
Conroy, Don
Maranian, Melanie
Ahmed, Shahana
Driver, Kristy
Johnson, Nichola
Orr, Nicholas
Silva, Isabel dos Santos
Waisfisz, Quinten
Meijers-Heijboer, Hanne
Uitterlinden, Andre G.
Rivadeneira, Fernando
Hall, Per
Czene, Kamila
Irwanto, Astrid
Liu, Jianjun
Nevanlinna, Heli
Aittomäki, Kristiina
Blomqvist, Carl
Meindl, Alfons
Schmutzler, Rita K
Müller-Myhsok, Bertram
Lichtner, Peter
Chang-Claude, Jenny
Hein, Rebecca
Nickels, Stefan
Flesch-Janys, Dieter
Tsimiklis, Helen
Makalic, Enes
Schmidt, Daniel
Bui, Minh
Hopper, John L
Apicella, Carmel
Park, Daniel J
Southey, Melissa
Chanock, Stephen J
Broeks, Annegien
Verhoef, Senno
Hogervorst, Frans BL
Fasching, Peter A.
Lux, Michael P.
Beckmann, Matthias W.
Ekici, Arif B.
Sawyer, Elinor
Tomlinson, Ian
Kerin, Michael
Marme, Frederik
Schneeweiss, Andreas
Sohn, Christof
Burwinkel, Barbara
Guénel, Pascal
Truong, Thérèse
Cordina-Duverger, Emilie
Menegaux, Florence
Bojesen, Stig E
Nordestgaard, Børge G
Nielsen, Sune F
Flyger, Henrik
Milne, Roger L.
Alonso, M. Rosario
González-Neira, Anna
Benítez, Javier
Anton-Culver, Hoda
Ziogas, Argyrios
Bernstein, Leslie
Dur, Christina Clarke
Brenner, Hermann
Müller, Heiko
Arndt, Volker
Stegmaier, Christa
Justenhoven, Christina
Brauch, Hiltrud
Brüning, Thomas
Wang-Gohrke, Shan
Eilber, Ursula
Dörk, Thilo
Schürmann, Peter
Bremer, Michael
Hillemanns, Peter
Bogdanova, Natalia V.
Antonenkova, Natalia N.
Rogov, Yuri I.
Karstens, Johann H.
Bermisheva, Marina
Prokofieva, Darya
Khusnutdinova, Elza
Lindblom, Annika
Margolin, Sara
Mannermaa, Arto
Kataja, Vesa
Kosma, Veli-Matti
Hartikainen, Jaana M
Lambrechts, Diether
Yesilyurt, Betul T.
Floris, Giuseppe
Leunen, Karin
Manoukian, Siranoush
Bonanni, Bernardo
Fortuzzi, Stefano
Peterlongo, Paolo
Couch, Fergus J
Wang, Xianshu
Stevens, Kristen
Lee, Adam
Giles, Graham G.
Baglietto, Laura
Severi, Gianluca
McLean, Catriona
Alnæs, Grethe Grenaker
Kristensen, Vessela
Børrensen-Dale, Anne-Lise
John, Esther M.
Winqvist, Robert
Pylkäs, Katri
Jukkola-Vuorinen, Arja
Kauppila, Saila
Andrulis, Irene L.
Glendon, Gord
Mulligan, Anna Marie
Devilee, Peter
van Asperen, Christie J.
Tollenaar, Rob A.E.M.
Seynaeve, Caroline
Figueroa, Jonine D
Garcia-Closas, Montserrat
Brinton, Louise
Lissowska, Jolanta
Hooning, Maartje J.
Hollestelle, Antoinette
Oldenburg, Rogier A.
van den Ouweland, Ans M.W.
Cox, Angela
Reed, Malcolm WR
Shah, Mitul
Jakubowska, Ania
Lubinski, Jan
Jaworska, Katarzyna
Durda, Katarzyna
Jones, Michael
Schoemaker, Minouk
Ashworth, Alan
Swerdlow, Anthony
Beesley, Jonathan
Chen, Xiaoqing
Muir, Kenneth R
Lophatananon, Artitaya
Rattanamongkongul, Suthee
Chaiwerawattana, Arkom
Kang, Daehee
Yoo, Keun-Young
Noh, Dong-Young
Shen, Chen-Yang
Yu, Jyh-Cherng
Wu, Pei-Ei
Hsiung, Chia-Ni
Perkins, Annie
Swann, Ruth
Velentzis, Louiza
Eccles, Diana M
Tapper, Will J
Gerty, Susan M
Graham, Nikki J
Ponder, Bruce A. J.
Chenevix-Trench, Georgia
Pharoah, Paul D.P.
Lathrop, Mark
Dunning, Alison M.
Rahman, Nazneen
Peto, Julian
Easton, Douglas F
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https://doi.org/10.1038/ng.1049Metadata
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Ghoussaini, Maya, Olivia Fletcher, Kyriaki Michailidou, Clare Turnbull, Marjanka K Schmidt, Ed Dicks, Joe Dennis, et al. 2013. Genome-wide association analysis identifies three new breast cancer susceptibility loci. Nature genetics 44(3): 312-318.Abstract
Breast cancer is the most common cancer among women. To date, 22 common breast cancer susceptibility loci have been identified accounting for ~ 8% of the heritability of the disease. We followed up 72 promising associations from two independent Genome Wide Association Studies (GWAS) in ~70,000 cases and ~68,000 controls from 41 case-control studies and nine breast cancer GWAS. We identified three new breast cancer risk loci on 12p11 (rs10771399; P=2.7 × 10−35), 12q24 (rs1292011; P=4.3×10−19) and 21q21 (rs2823093; P=1.1×10−12). SNP rs10771399 was associated with similar relative risks for both estrogen receptor (ER)-negative and ER-positive breast cancer, whereas the other two loci were associated only with ER-positive disease. Two of the loci lie in regions that contain strong plausible candidate genes: PTHLH (12p11) plays a crucial role in mammary gland development and the establishment of bone metastasis in breast cancer, while NRIP1 (21q21) encodes an ER co-factor and has a role in the regulation of breast cancer cell growth.Other Sources
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3653403/pdf/Terms of Use
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