Milne, R. L., Lorenzo-Bermejo, J., Burwinkel, B., Malats, N., Arias, J. I., Zamora, M. P., Benitez, J., Humphreys, M. K., Garcia-Closas, M., Chanock, S. J., Lissowska, J., Sherman, M. E., Mannermaa, A., Kataja, V., Kosma, V. M., Nevanlinna, H., Heikkinen, T., Aittomaki, K., Blomqvist, C., Anton-Culver, H., Ziogas, A., Devilee, P., van Asperen, C. J., Tollenaar, Raem, Seynaeve, C., Hall, P., Czene, K., Liu, J. J., Irwanto, A. K., Kang, D., Yoo, K. Y., Noh, D. Y., Couch, F. J., Olson, J. E., Wang, X. S., Fredericksen, Z., Nordestgaard, B. G., Bojesen, S. E., Flyger, H., Margolin, S., Lindblom, A., Fasching, P. A., Schulz-Wendtland, R., Ekici, A. B., Beckmann, M. W., Wang-Gohrke, S., Shen, C. Y., Yu, J. C., Hsu, H. M., Wu, P. E., Giles, G. G., Severi, G., Baglietto, L., English, D. R., Cox, A., Brock, I., Elliott, G., Reed, M. W. R., Beesley, J., Chen, X. Q., Fletcher, O., Gibson, L., Silva, I. D., Peto, J., Frank, B., Heil, J., Meindl, A., Chang-Claude, J., Hein, R., Vrieling, A., Flesch-Janys, D., Southey, M. C., Smith, L., Apicella, C., Hopper, J. L., Dunning, A. M., Pooley, K. A., Pharoah, P. D. P., Hamann, U., Pesch, B., Ko, Y. D., Easton, D. F., Chenevix-Trench, G., Investigators, K. ConFab, Grp, Aocs, Network, Genica (2011) 7q21-rs6964587 and breast cancer risk: an extended case-control study by the Breast Cancer Association Consortium. JOURNAL OF MEDICAL GENETICS, 48 (10). pp. 698-702. ISSN 0022-2593

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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.

Item Type:	Article
Authors (ICR Faculty only):	GarciaClosas, Montse
All Authors:	Milne, R. L., Lorenzo-Bermejo, J., Burwinkel, B., Malats, N., Arias, J. I., Zamora, M. P., Benitez, J., Humphreys, M. K., Garcia-Closas, M., Chanock, S. J., Lissowska, J., Sherman, M. E., Mannermaa, A., Kataja, V., Kosma, V. M., Nevanlinna, H., Heikkinen, T., Aittomaki, K., Blomqvist, C., Anton-Culver, H., Ziogas, A., Devilee, P., van Asperen, C. J., Tollenaar, Raem, Seynaeve, C., Hall, P., Czene, K., Liu, J. J., Irwanto, A. K., Kang, D., Yoo, K. Y., Noh, D. Y., Couch, F. J., Olson, J. E., Wang, X. S., Fredericksen, Z., Nordestgaard, B. G., Bojesen, S. E., Flyger, H., Margolin, S., Lindblom, A., Fasching, P. A., Schulz-Wendtland, R., Ekici, A. B., Beckmann, M. W., Wang-Gohrke, S., Shen, C. Y., Yu, J. C., Hsu, H. M., Wu, P. E., Giles, G. G., Severi, G., Baglietto, L., English, D. R., Cox, A., Brock, I., Elliott, G., Reed, M. W. R., Beesley, J., Chen, X. Q., Fletcher, O., Gibson, L., Silva, I. D., Peto, J., Frank, B., Heil, J., Meindl, A., Chang-Claude, J., Hein, R., Vrieling, A., Flesch-Janys, D., Southey, M. C., Smith, L., Apicella, C., Hopper, J. L., Dunning, A. M., Pooley, K. A., Pharoah, P. D. P., Hamann, U., Pesch, B., Ko, Y. D., Easton, D. F., Chenevix-Trench, G., Investigators, K. ConFab, Grp, Aocs, Network, Genica
Additional Information:	ISI Document Delivery No.: 822FZ Times Cited: 0 Cited Reference Count: 20 Milne, Roger L. Lorenzo-Bermejo, Justo Burwinkel, Barbara Malats, Nuria Ignacio Arias, Jose Pilar Zamora, M. Benitez, Javier Humphreys, Manjeet K. Garcia-Closas, Montserrat Chanock, Stephen J. Lissowska, Jolanta Sherman, Mark E. Mannermaa, Arto Kataja, Vesa Kosma, Veli-Matti Nevanlinna, Heli Heikkinen, Tuomas Aittomaki, Kristiina Blomqvist, Carl Anton-Culver, Hoda Ziogas, Argyrios Devilee, Peter van Asperen, Christie J. Tollenaar, Rob A. E. M. Seynaeve, Caroline Hall, Per Czene, Kamila Liu, Jianjun Irwanto, Astrid K. Kang, Daehee Yoo, Keun-Young Noh, Dong-Young Couch, Fergus J. Olson, Janet E. Wang, Xianshu Fredericksen, Zachary Nordestgaard, Borge G. Bojesen, Stig E. Flyger, Henrik Margolin, Sara Lindblom, Annika Fasching, Peter A. Schulz-Wendtland, Ruediger Ekici, Arif B. Beckmann, Matthias W. Wang-Gohrke, Shan Shen, Chen-Yang Yu, Jyh-Cherng Hsu, Huan-Ming Wu, Pei-Ei Giles, Graham G. Severi, Gianluca Baglietto, Laura English, Dallas R. Cox, Angela Brock, Ian Elliott, Graeme Reed, Malcolm W. R. Beesley, Jonathan Chen, Xiaoqing Fletcher, Olivia Gibson, Lorna Silva, Isabel dos Santos Peto, Julian Frank, Bernd Heil, Joerg Meindl, Alfons Chang-Claude, Jenny Hein, Rebecca Vrieling, Alina Flesch-Janys, Dieter Southey, Melissa C. Smith, Letitia Apicella, Carmel Hopper, John L. Dunning, Alison M. Pooley, Karen A. Pharoah, Paul D. P. Hamann, Ute Pesch, Beate Ko, Yon-Dschun Easton, Douglas F. Chenevix-Trench, Georgia B m j publishing group London
Uncontrolled Keywords:	gene susceptibility variants estrogen women atm
Research teams:	Closed research groups > Molecular Epidemiology
Depositing User:	Barry Jenkins
Date Deposited:	10 Oct 2011 11:34
Last Modified:	01 Dec 2015 13:56
URI:	http://publications.icr.ac.uk/id/eprint/11065

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