The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1)
Open accessAbstract
We conducted a three-stage genome-wide association study (GWAS) of breast cancer in 9,770 cases and 10,799 controls in the Cancer Genetic Markers of Susceptibility (CGEMS) initiative. In stage 1, we genotyped 528,173 SNPs in 1,145 cases of invasive breast cancer and 1,142 controls. In stage 2, we analyzed 24,909 top SNPs in 4,547 cases and 4,434 controls. In stage 3, we investigated 21 loci in 4,078 cases and 5,223 controls. Two new loci achieved genome-wide significance. A pericentromeric SNP on chromosome 1p11.2 (rs11249433; P = 6.74 × 10−10 adjusted genotype test, 2 degrees of freedom) resides in a large linkage disequilibrium block neighboring NOTCH2 and FCGR1B; this signal was stronger for estrogen-receptor–positive tumors. A second SNP on chromosome 14q24.1 (rs999737; P = 1.74 × 10−7) localizes to RAD51L1, a gene in the homologous recombination DNA repair pathway. We also confirmed associations with loci on chromosomes 2q35, 5p12, 5q11.2, 8q24, 10q26 and 16q12.1.
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Cites
Principal components analysis corrects for stratification in genome-wide association studies
Price, A. L., Patterson, N. J., Plenge, R. M., Weinblatt, M. E., Shadick, N. A., & Reich, D. (2006) · Nature Genetics · doi:10.1038/ng1847 · Cited by 10,248
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442
Genome-wide association study identifies novel breast cancer susceptibility loci
Easton, D. F., Pooley, K. A., Dunning, A. M., Pharoah, P. D. P., Thompson, D., Ballinger, D. G., Struewing, J. P., Morrison, J., Field, H., Luben, R., et al. (2007) · Nature · doi:10.1038/nature05887 · Cited by 2,319
Self-citationSkol, A. D., Scott, L. J., Abecasis, G. R., & Boehnke, M. (2006) · Nature Genetics · doi:10.1038/ng1706 · Cited by 1,286
The CHEK2-Breast Cancer Consortium (2002) · Nature Genetics · doi:10.1038/ng879 · Cited by 1,104
Stacey, S. N., Manolescu, A., Sulem, P., Rafnar, T., Gudmundsson, J., Gudjonsson, S. A., Masson, G., Jakobsdottir, M., Thorlacius, S., Helgason, A., et al. (2007) · Nature Genetics · doi:10.1038/ng2064 · Cited by 786
The Breast Cancer Susceptibility Collaboration (UK), Seal, S., Thompson, D., Renwick, A., Elliott, A., Kelly, P., Barfoot, R., Chagtai, T., Jayatilake, H., Ahmed, M., et al. (2006) · Nature Genetics · doi:10.1038/ng1902 · Cited by 746
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Variance component model to account for sample structure in genome-wide association studies
Kang, H. M., Sul, J. H., Service, S. K., Zaitlen, N. A., Kong, S.-Y., Freimer, N. B., Sabatti, C., & Eskin, E. (2010) · Nature Genetics · doi:10.1038/ng.548 · Cited by 2,817
The landscape of long noncoding RNAs in the human transcriptome
Iyer, M. K., Niknafs, Y. S., Malik, R., Singhal, U., Sahu, A., Hosono, Y., Barrette, T. R., Prensner, J. R., Evans, J. R., Zhao, S., et al. (2015) · Nature Genetics · doi:10.1038/ng.3192 · Cited by 2,738
Meindl, A., Hellebrand, H., Wiek, C., Erven, V., Wappenschmidt, B., Niederacher, D., Freund, M., Lichtner, P., Hartmann, L., Schaal, H., et al. (2010) · Nature Genetics · doi:10.1038/ng.569 · Cited by 743
Park, J.-H., Wacholder, S., Gail, M. H., Peters, U., Jacobs, K. B., Chanock, S. J., & Chatterjee, N. (2010) · Nature Genetics · doi:10.1038/ng.610 · Cited by 678
Self-citationGenome-wide association study identifies five new breast cancer susceptibility loci
The Breast Cancer Susceptibility Collaboration (UK), Turnbull, C., Ahmed, S., Morrison, J., Pernet, D., Renwick, A., Maranian, M., Seal, S., Ghoussaini, M., Hines, S., et al. (2010) · Nature Genetics · doi:10.1038/ng.586 · Cited by 687
Metadata
- Authors
- Thomas, G., Jacobs, K. B., Kraft, P., Yeager, M., Wacholder, S., Cox, D. G., Hankinson, S. E., Hutchinson, A., Wang, Z., Yu, K., Chatterjee, N., Garcia-Closas, M., Gonzalez-Bosquet, J., Prokunina-Olsson, L., Orr, N., Willett, W. C., Colditz, G. A., Ziegler, R. G., Berg, C. D., Buys, S. S., McCarty, C. A., Feigelson, H. S., Calle, E. E., Thun, M. J., Diver, R., Prentice, R., Jackson, R., Kooperberg, C., Chlebowski, R., Lissowska, J., Peplonska, B., Brinton, L. A., Sigurdson, A., Doody, M., Bhatti, P., Alexander, B. H., Buring, J., Lee, I.-M., Vatten, L. J., Hveem, K., Kumle, M., Hayes, R. B., Tucker, M., Gerhard, D. S., Fraumeni, J. F., Hoover, R. N., Chanock, S. J., & Hunter, D. J.
- Venue
- Nature Genetics
- Published
- 2009-03-29
- Volume
- 41
- Issue
- 5
- Pages
- 579-584
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2103123188
- Cited by
- 536
- References
- 7
- FWCI
- 43.31
- Type
- journal article
- Language
- en
- Open access
- green
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- Thomas, G., Jacobs, K. B., Kraft, P., Yeager, M., Wacholder, S., Cox, D. G., Hankinson, S. E., Hutchinson, A., Wang, Z., Yu, K., Chatterjee, N., Garcia-Closas, M., Gonzalez-Bosquet, J., Prokunina-Olsson, L., Orr, N., Willett, W. C., Colditz, G. A., Ziegler, R. G., Berg, C. D., . . . Hunter, D. J. (2009). A multistage genome-wide association study in breast cancer identifies two new risk alleles at 1p11.2 and 14q24.1 (RAD51L1). Nature Genetics. https://doi.org/10.1038/ng.353
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