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Human Mutation

Publication date: 2012-07-01
Volume: 33 Pages: 1123 - 1132
Publisher: John Wiley & Sons, Inc.

Author:

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 ; Hillemanns, Peter ; Bogdanova, Natalia V ; Antonenkova, Natalia N ; Rogov, Yuri I ; Karstens, Johann H ; Khusnutdinova, Elza ; Bermisheva, Marina ; Prokofieva, Darya ; Gancev, Shamil ; Jakubowska, Anna ; Cornelissen, Sten ; Lubinski, Jan ; Jaworska, Katarzyna ; Durda, Katarzyna ; Nordestgaard, Børge G ; Bojesen, Stig E ; Lanng, Charlotte ; Mannermaa, Arto ; Kataja, Vesa ; Kosma, Veli-Matti ; Hartikainen, Jaana M ; Hien, Richard van ; Radice, Paolo ; Peterlongo, Paolo ; Manoukian, Siranoush ; Bernard, Loris ; Couch, Fergus J ; Olson, Janet E ; Wang, Xianshu ; Fredericksen, Zachary ; Alnßs, Grethe Grenaker ; Kristensen, Vessela ; Sawyer, Elinor ; Børresen-Dale, Anne-Lise ; Devilee, Peter ; Tollenaar, Robert AEM ; Seynaeve, Caroline M ; Hooning, Maartje J ; García-Closas, Montserrat ; Chanock, Stephen J ; Lissowska, Jolanta ; Sherman, Mark E ; Hall, Per ; Tomlinson, Ian ; Liu, Jianjun ; Czene, Kamila ; Kang, Daehee ; Yoo, Keun-Young ; Noh, Dong-Young ; Lindblom, Annika ; Margolin, Sara ; Dunning, Alison M ; Pharoah, Paul DP ; Easton, Douglas F ; Kerin, Michael ; Guénel, Pascal ; Brauch, Hiltrud ; Miller, Nicola ; Milne, Roger L ; Zamora, M Pilar ; Pérez, José Ignacio Arias ; Benítez, Javier ; Hamann, Ute ; Brüning, Thomas ; The GENICA Network, ; Chang-Claude, Jenny ; Eilber, Ursel ; Hein, Rebecca ; Nickels, Stefan ; Flesch-Janys, Dieter ; Wang-Gohrke, Shan ; John, Esther M ; Miron, Alexander ; Winqvist, Robert ; Pylkäs, Katri ; Jukkola-Vuorinen, Arja ; Grip, Mervi ; Chenevix-Trench, Georgia ; Beesley, Jonathan ; Chen, Xiaoqing ; kConFab Investigators, ; Australian Ovarian Cancer Study Group, ; 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 ; Marmé, Federik ; Schneeweiss, Andreas ; Sohn, Christof ; Burwinkel, Barbara ; Yesilyurt, Betul T ; Neven, Patrick ; Paridaens, Robert ; Wildiers, Hans ; Brenner, Hermann ; Müller, 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 ; Dos Santos Silva, Isabel ; Peto, Julian ; Nevanlinna, Heli ; Muranen, Taru A ; Aittomäki, Kristiina ; Blomqvist, Carl ; Dörk, Thilo ; Schürmann, Peter ; Bremer, Michael

Keywords:

Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, breast cancer susceptibility, polymorphisms, genome-wide association, risk factors, hormone receptor status, 11q13, GENOME-WIDE ASSOCIATION, SINGLE-NUCLEOTIDE POLYMORPHISMS, TUMOR CHARACTERISTICS, COMMON VARIANTS, CONFER SUSCEPTIBILITY, FAMILY REGISTRY, BRCA1 MUTATIONS, REPAIR GENES, IDENTIFIES 5, CYCLIN D1, Breast Neoplasms, Chromosomes, Human, Pair 11, Female, Genetic Predisposition to Disease, Genome-Wide Association Study, Genotype, Humans, Polymorphism, Single Nucleotide, Receptors, Estrogen, Receptors, Progesterone, Risk Factors, White People, GENICA Network, Investigators kConFab, Australian Ovarian Cancer Study Group, 0604 Genetics, 1103 Clinical Sciences, 3105 Genetics, 3202 Clinical sciences

Abstract:

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.