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Large-scale genotyping identifies 41 new loci associated with breast cancer risk
Open accessAbstract
Breast cancer is the most common cancer among women. Common variants at 27 loci have been identified as associated with susceptibility to breast cancer, and these account for ∼9% of the familial risk of the disease. We report here a meta-analysis of 9 genome-wide association studies, including 10,052 breast cancer cases and 12,575 controls of European ancestry, from which we selected 29,807 SNPs for further genotyping. These SNPs were genotyped in 45,290 cases and 41,880 controls of European ancestry from 41 studies in the Breast Cancer Association Consortium (BCAC). The SNPs were genotyped as part of a collaborative genotyping experiment involving four consortia (Collaborative Oncological Gene-environment Study, COGS) and used a custom Illumina iSelect genotyping array, iCOGS, comprising more than 200,000 SNPs. We identified SNPs at 41 new breast cancer susceptibility loci at genome-wide significance (P < 5 × 10−8). Further analyses suggest that more than 1,000 additional loci are involved in breast cancer susceptibility.
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Citations
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Metadata
- Authors
- The Breast and Ovarian Cancer Susceptibility Collaboration, Michailidou, K., Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), kConFab Investigators, Australian Ovarian Cancer Study Group, The GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network, Hall, P., Gonzalez-Neira, A., Ghoussaini, M., Dennis, J., Milne, R. L., Schmidt, M. K., Chang-Claude, J., Bojesen, S. E., Bolla, M. K., Wang, Q., Dicks, E., Lee, A., Turnbull, C., Rahman, N., Fletcher, O., Peto, J., Gibson, L., dos Santos Silva, I., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Czene, K., Irwanto, A., Liu, J., Waisfisz, Q., Meijers-Heijboer, H., Adank, M., van der Luijt, R. B., Hein, R., Dahmen, N., Beckman, L., Meindl, A., Schmutzler, R. K., Müller-Myhsok, B., Lichtner, P., Hopper, J. L., Southey, M. C., Makalic, E., Schmidt, D. F., Uitterlinden, A. G., Hofman, A., Hunter, D. J., Chanock, S. J., Vincent, D., Bacot, F., Tessier, D. C., Canisius, S., Wessels, L. F. A., Haiman, C. A., Shah, M., Luben, R., Brown, J., Luccarini, C., Schoof, N., Humphreys, K., Li, J., Nordestgaard, B. G., Nielsen, S. F., Flyger, H., Couch, F. J., Wang, X., Vachon, C., Stevens, K. N., Lambrechts, D., Moisse, M., Paridaens, R., Christiaens, M.-R., Rudolph, A., Nickels, S., Flesch-Janys, D., Johnson, N., Aitken, Z., Aaltonen, K., Heikkinen, T., Broeks, A., Veer, L. J. V., van der Schoot, C. E., Guénel, P., Truong, T., Laurent-Puig, P., Menegaux, F., Marme, F., Schneeweiss, A., Sohn, C., Burwinkel, B., Zamora, M. P., Perez, J. I. A., Pita, G., Alonso, M. R., Cox, A., Brock, I. W., Cross, S. S., Reed, M. W. R., Sawyer, E. J., Tomlinson, I., Kerin, M. J., Miller, N., Henderson, B. E., Schumacher, F., Le Marchand, L., Andrulis, I. L., Knight, J. A., Glendon, G., Mulligan, A. M., Lindblom, A., Margolin, S., Hooning, M. J., Hollestelle, A., van den Ouweland, A. M. W., Jager, A., Bui, Q. M., Stone, J., Dite, G. S., Apicella, C., Tsimiklis, H., Giles, G. G., Severi, G., Baglietto, L., Fasching, P. A., Haeberle, L., Ekici, A. B., Beckmann, M. W., Brenner, H., Müller, H., Arndt, V., Stegmaier, C., Swerdlow, A., Ashworth, A., Orr, N., Jones, M., Figueroa, J., Lissowska, J., Brinton, L., Goldberg, M. S., Labrèche, F., Dumont, M., Winqvist, R., Pylkäs, K., Jukkola-Vuorinen, A., Grip, M., Brauch, H., Hamann, U., Brüning, T., Radice, P., Peterlongo, P., Manoukian, S., Bonanni, B., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C., van Asperen, C. J., Jakubowska, A., Lubinski, J., Jaworska, K., Durda, K., Mannermaa, A., Kataja, V., Kosma, V.-M., Hartikainen, J. M., Bogdanova, N. V., Antonenkova, N. N., Dörk, T., Kristensen, V. N., Anton-Culver, H., Slager, S., Toland, A. E., Edge, S., Fostira, F., Kang, D., Yoo, K.-Y., Noh, D.-Y., Matsuo, K., Ito, H., Iwata, H., Sueta, A., Wu, A. H., Tseng, C.-C., Van Den Berg, D., Stram, D. O., Shu, X.-O., Lu, W., Gao, Y.-T., Cai, H., Teo, S. H., Yip, C. H., Phuah, S. Y., Cornes, B. K., Hartman, M., Miao, H., Lim, W. Y., Sng, J.-H., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Shen, C.-Y., Hsiung, C.-N., Wu, P.-E., Ding, S.-L., Sangrajrang, S., Gaborieau, V., Brennan, P., McKay, J., Blot, W. J., Signorello, L. B., Cai, Q., Zheng, W., Deming-Halverson, S., Shrubsole, M., Long, J., Simard, J., Garcia-Closas, M., Pharoah, P. D. P., Chenevix-Trench, G., Dunning, A. M., Benitez, J., & Easton, D. F.
- Venue
- Nature Genetics
- Published
- 2013-03-27
- Volume
- 45
- Issue
- 4
- Pages
- 353-361
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2135665336
- Cited by
- 1,069
- References
- 11
- FWCI
- 97.72
- Type
- journal article
- Language
- en
- Open access
- green
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- The Breast and Ovarian Cancer Susceptibility Collaboration, Michailidou, K., Hereditary Breast and Ovarian Cancer Research Group Netherlands (HEBON), kConFab Investigators, Australian Ovarian Cancer Study Group, The GENICA (Gene Environment Interaction and Breast Cancer in Germany) Network, Hall, P., Gonzalez-Neira, A., Ghoussaini, M., Dennis, J., Milne, R. L., Schmidt, M. K., Chang-Claude, J., Bojesen, S. E., Bolla, M. K., Wang, Q., Dicks, E., Lee, A., Turnbull, C., . . . Easton, D. F. (2013). Large-scale genotyping identifies 41 new loci associated with breast cancer risk. Nature Genetics. https://doi.org/10.1038/ng.2563
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