7q21-rs6964587 and breast cancer risk: an extended case–control study by the Breast Cancer Association Consortium
Year: 2011
Type: article
Study design: Observational Study
Abstract: BACKGROUND: Using the Breast Cancer Association Consortium, the authors previously reported that the single nucleotide polymorphism 7q21-rs6964587 (AKAP9-M463I) is associated with breast cancer risk. The authors have now assessed this association more comprehensively using 16 independent case-control studies. METHODS: The authors genotyped 14,843 invasive case patients and 19,852 control subjects with white European ancestry and 2595 invasive case patients and 2192 control subjects with Asian ancestry. ORs were estimated by logistic regression, adjusted for study. Heterogeneity in ORs was assessed by fitting interaction terms or by subclassifying case patients and applying polytomous logistic regression. RESULTS: For white European women, the minor T allele of 7q21-rs6964587 was associated with breast cancer risk under a recessive model (OR 1.07, 95% CI 1.00 to 1.13, p = 0.04). Results were inconclusive for Asian women. From a combined analysis of 24 154 case patients and 33,376 control subjects of white European ancestry from the present and previous series, the best-fitting model was recessive, with an estimated OR of 1.08 (95% CI 1.03 to 1.13, p = 0.001). The OR was greater at younger ages (p trend = 0.01). CONCLUSION: This may be the first common susceptibility allele for breast cancer to be identified with a recessive mode of inheritance.
Source: Journal of Medical Genetics
Authors: Roger L Milne, Justo Lorenzo-Bermejo, Barbara Burwinkel, Núria Malats, Jose Ignacio Arias, M Pilar Zamora, Javier Benítez, Manjeet K Humphreys, Montserrat García-Closas, Stephen J Chanock, Jolanta Lissowska, Mark E Sherman, Arto Mannermaa, Vesa Kataja, Veli-Matti Kosma, Heli Nevanlinna, Tuomas Heikkinen, Kristiina Aittomäki, Carl Blomqvist, Hoda Anton-Culver, Argyrios Ziogas, Peter Devilee, Christie J van Asperen, Rob A E M Tollenaar, Caroline Seynaeve, Per Hall, Kamila Czene, Jianjun Liu, Astrid K Irwanto, Daehee Kang, Keun-Young Yoo, Dong-Young Noh, Fergus J Couch, Janet E Olson, Xianshu Wang, Zachary Fredericksen, Børge G Nordestgaard, Stig E Bojesen, Henrik Flyger, Sara Margolin, Annika Lindblom, Peter A Fasching, Ruediger Schulz-Wendtland, Arif B Ekici, Matthias W Beckmann, Shan Wang-Gohrke, Chen-Yang Shen, Jyh-Cherng Yu, Huan-Ming Hsu, Pei-Ei Wu, Graham G Giles, Gianluca Severi, Laura Baglietto, Dallas R English, Angela Cox, Ian Brock, Graeme Elliott, Malcolm W R Reed, Jonathan Beesley, Xiaoqing Chen, kConFab Investigators, AOCS Group, Olivia Fletcher, Lorna Gibson, Isabel dos Santos Silva, Julian Peto, Bernd Frank, Joerg Heil, Alfons Meindl, Jenny Chang-Claude, Rebecca Hein, Alina Vrieling, Dieter Flesch-Janys, Melissa C Southey, Letitia Smith, Carmel Apicella, John L Hopper, Alison M Dunning, Karen A Pooley, Paul D P Pharoah, Ute Hamann, Beate Pesch, Yon-Dschun Ko, The GENICA Network, Douglas F Easton, Georgia Chenevix-Trench
Institutions: Spanish National Cancer Research Centre, German Cancer Research Center, University Hospital Heidelberg, Hospital Monte Naranco, Hospital Universitario La Paz, University of Cambridge, Institute of Cancer Research, Division of Cancer Epidemiology and Genetics, The Maria Sklodowska-Curie National Research Institute of Oncology, University of Eastern Finland, Kuopio University Hospital, Helsinki University Hospital, University of California, Irvine, Leiden University Medical Center, Erasmus MC Cancer Institute, Daniel den Hoed Kliniek, Karolinska Institutet, Genome Institute of Singapore, Seoul National University, Mayo Clinic, University of Copenhagen, Herlev Hospital, University of California, Los Angeles, Universitätsklinikum Erlangen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Universität Ulm, Institute of Biomedical Sciences, Academia Sinica, Taiwan Biobank, Academia Sinica, Tri-Service General Hospital, Cancer Council Victoria, The University of Melbourne, University of Sheffield, QIMR Berghofer Medical Research Institute, Peter MacCallum Cancer Centre, London School of Hygiene & Tropical Medicine, Technical University of Munich, University Medical Center Hamburg-Eppendorf, Institute for Prevention and Occupational Medicine, Johanniter-Krankenhaus Bonn, University of Bonn, Dr. Margarete Fischer-Bosch-Institute of Clinical Pharmacology, University of Tübingen
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Awards: Australian Breast Cancer Family Registry, A genome-wide association study for breast cancer in BRCA1 mutation carriers, G1216030017, Prognosis in BRCA1 Associated Breast Cancer, G1483387011, G1791794685, Immunobiology and Pathogenesis of Pulmonary Tularemia (Metzger, PD), Ontario Familial Breast Cancer Registry, G236237718, Northern California Cooperative Family Registry for Breast Cancer, Hereditary Breast Cancer: Genetic and Molecular Studies, Genetic epidemiology of cell division regulation in breast cancer, G3861273407, G3919799492, G431899019, G4516390658, Metropolitan New York Regisry of Breast Cancer Families, G5144416930, Redox-Control of MMP-1 and Senescence, G5496469482, G5865683244, G6208597191, G6279653796, G6283257732, Philadelphia Breast Cancer Family Registry, G6554032491, Hormonal Factors in Invasive and LMP Ovarian Cancers, G7009610138, G704544610, G7116997479, G7166237062, G796664094, Utah Breast Cancer Family Registry, G847461785, Redox Regulation of Metastasis by Sod2, Mayo Clinic Breast Cancer SPORE, G962634321
OpenAlex ID: W2124733817