The DOI matches its Crossref record; 39 of the 39 references it cites were found in a registry or an index.
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer
Open accessAbstract
Genome-wide association studies (GWAS) and large-scale replication studies have identified common variants in 79 loci associated with breast cancer, explaining ∼14% of the familial risk of the disease. To identify new susceptibility loci, we performed a meta-analysis of 11 GWAS, comprising 15,748 breast cancer cases and 18,084 controls together with 46,785 cases and 42,892 controls from 41 studies genotyped on a 211,155-marker custom array (iCOGS). Analyses were restricted to women of European ancestry. We generated genotypes for more than 11 million SNPs by imputation using the 1000 Genomes Project reference panel, and we identified 15 new loci associated with breast cancer at P < 5 × 10−8. Combining association analysis with ChIP-seq chromatin binding data in mammary cell lines and ChIA-PET chromatin interaction data from ENCODE, we identified likely target genes in two regions: SETBP1 at 18q12.3 and RNF115 and PDZK1 at 1q21.1. One association appears to be driven by an amino acid substitution encoded in EXO1.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
PD-1 and PD-L1 Immune Checkpoint Blockade to Treat Breast Cancer
Hartkopf, A. D., Taran, F.-A., Wallwiener, M., Walter, C. B., Krämer, B., Grischke, E.-M., & Brucker, S. Y. (2016) · Breast Care · doi:10.1159/000453569 · Cited by 30,845
Nishimura, R., Osako, T., Nishiyama, Y., Tashima, R., Nakano, M., Fujisue, M., Toyozumi, Y., & Arima, N. (2013) · Oncology · doi:10.1159/000353099 · Cited by 13,166
Comprehensive molecular portraits of human breast tumours
The Cancer Genome Atlas Network (2012) · Nature · doi:10.1038/nature11412 · Cited by 12,129
A general framework for estimating the relative pathogenicity of human genetic variants
Kircher, M., Witten, D. M., Jain, P., O'Roak, B. J., Cooper, G. M., & Shendure, J. (2014) · Nature Genetics · doi:10.1038/ng.2892 · Cited by 6,183
METAL: fast and efficient meta-analysis of genomewide association scans
Willer, C. J., Li, Y., & Abecasis, G. R. (2010) · Bioinformatics · doi:10.1093/bioinformatics/btq340 · Cited by 5,205
Super-enhancers in the control of cell identity and disease
Hnisz, D., Abraham, B. J., Lee, T. I., Lau, A., Saint-André, V., Sigova, A. A., Hoke, H. A., & Young, R. A. (2013) · Cell · doi:10.1016/j.cell.2013.09.053 · Cited by 3,662
Kamangar, F., Dores, G. M., & Anderson, W. F. (2006) · Journal of Clinical Oncology · doi:10.1200/jco.2005.05.2308 · Cited by 3,434
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-citationFast and accurate genotype imputation in genome-wide association studies through pre-phasing
Howie, B., Fuchsberger, C., Stephens, M., Marchini, J., & Abecasis, G. R. (2012) · Nature Genetics · doi:10.1038/ng.2354 · Cited by 1,737
Genotype imputation for genome-wide association studies
Marchini, J., & Howie, B. (2010) · Nature Reviews Genetics · doi:10.1038/nrg2796 · Cited by 1,627
Cited by
Buniello, A., MacArthur, J. A. L., Cerezo, M., Harris, L. W., Hayhurst, J., Malangone, C., McMahon, A., Morales, J., Mountjoy, E., Sollis, E., et al. (2019) · Nucleic Acids Research · doi:10.1093/nar/gky1120 · Cited by 4,000
Zondervan, K. T., Becker, C. M., & Missmer, S. A. (2020) · New England Journal of Medicine · doi:10.1056/nejmra1810764 · Cited by 2,249
Key steps for effective breast cancer prevention
Britt, K. L., Cuzick, J., & Phillips, K.-A. (2020) · Nature Reviews Cancer · doi:10.1038/s41568-020-0266-x · Cited by 992
Cancer health disparities in racial/ethnic minorities in the United States
Zavala, V. A., Bracci, P. M., Carethers, J. M., Carvajal-Carmona, L., Coggins, N. B., Cruz-Correa, M. R., Davis, M., de Smith, A. J., Dutil, J., Figueiredo, J. C., et al. (2021) · British Journal of Cancer · doi:10.1038/s41416-020-01038-6 · Cited by 912
Self-citationMaas, P., Barrdahl, M., Joshi, A. D., Auer, P. L., Gaudet, M. M., Milne, R. L., Schumacher, F. R., Anderson, W. F., Check, D., Chattopadhyay, S., et al. (2016) · JAMA Oncology · doi:10.1001/jamaoncol.2016.1025 · Cited by 373
Self-citation
Metadata
- Authors
- BOCS, Michailidou, K., kConFab Investigators, AOCS Group, NBCS, GENICA Network, Beesley, J., Lindstrom, S., Canisius, S., Dennis, J., Lush, M. J., Maranian, M. J., Bolla, M. K., Wang, Q., Shah, M., Perkins, B. J., Czene, K., Eriksson, M., Darabi, H., Brand, J. S., Bojesen, S. E., Nordestgaard, B. G., Flyger, H., Nielsen, S. F., Rahman, N., Turnbull, C., Fletcher, O., Peto, J., Gibson, L., dos-Santos-Silva, I., Chang-Claude, J., Flesch-Janys, D., Rudolph, A., Eilber, U., Behrens, S., Nevanlinna, H., Muranen, T. A., Aittomäki, K., Blomqvist, C., Khan, S., Aaltonen, K., Ahsan, H., Kibriya, M. G., Whittemore, A. S., John, E. M., Malone, K. E., Gammon, M. D., Santella, R. M., Ursin, G., Makalic, E., Schmidt, D. F., Casey, G., Hunter, D. J., Gapstur, S. M., Gaudet, M. M., Diver, W. R., Haiman, C. A., Schumacher, F., Henderson, B. E., Le Marchand, L., Berg, C. D., Chanock, S. J., Figueroa, J., Hoover, R. N., Lambrechts, D., Neven, P., Wildiers, H., van Limbergen, E., Schmidt, M. K., Broeks, A., Verhoef, S., Cornelissen, S., Couch, F. J., Olson, J. E., Hallberg, E., Vachon, C., Waisfisz, Q., Meijers-Heijboer, H., Adank, M. A., van der Luijt, R. B., Li, J., Liu, J., Humphreys, K., Kang, D., Choi, J.-Y., Park, S. K., Yoo, K.-Y., Matsuo, K., Ito, H., Iwata, H., Tajima, K., Guénel, P., Truong, T., Mulot, C., Sanchez, M., Burwinkel, B., Marme, F., Surowy, H., Sohn, C., Wu, A. H., Tseng, C.-C., Van Den Berg, D., Stram, D. O., González-Neira, A., Benitez, J., Zamora, M. P., Perez, J. I. A., Shu, X.-O., Lu, W., Gao, Y.-T., Cai, H., Cox, A., Cross, S. S., Reed, M. W. R., Andrulis, I. L., Knight, J. A., Glendon, G., Mulligan, A. M., Sawyer, E. J., Tomlinson, I., Kerin, M. J., Miller, N., Lindblom, A., Margolin, S., Teo, S. H., Yip, C. H., Taib, N. A. M., Tan, G.-H., Hooning, M. J., Hollestelle, A., Martens, J. W. M., Collée, J. M., Blot, W., Signorello, L. B., Cai, Q., Hopper, J. L., Southey, M. C., Tsimiklis, H., Apicella, C., Shen, C.-Y., Hsiung, C.-N., Wu, P.-E., Hou, M.-F., Kristensen, V. N., Nord, S., Alnaes, G. I. G., Giles, G. G., Milne, R. L., McLean, C., Canzian, F., Trichopoulos, D., Peeters, P., Lund, E., Sund, M., Khaw, K.-T., Gunter, M. J., Palli, D., Mortensen, L. M., Dossus, L., Huerta, J.-M., Meindl, A., Schmutzler, R. K., Sutter, C., Yang, R., Muir, K., Lophatananon, A., Stewart-Brown, S., Siriwanarangsan, P., Hartman, M., Miao, H., Chia, K. S., Chan, C. W., Fasching, P. A., Hein, A., Beckmann, M. W., Haeberle, L., Brenner, H., Dieffenbach, A. K., Arndt, V., Stegmaier, C., Ashworth, A., Orr, N., Schoemaker, M. J., Swerdlow, A. J., Brinton, L., Garcia-Closas, M., Zheng, W., Halverson, S. L., Shrubsole, M., Long, J., 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., Bernard, L., Bogdanova, N. V., Dörk, T., Mannermaa, A., Kataja, V., Kosma, V.-M., Hartikainen, J. M., Devilee, P., Tollenaar, R. A. E. M., Seynaeve, C., Van Asperen, C. J., Jakubowska, A., Lubinski, J., Jaworska, K., Huzarski, T., Sangrajrang, S., Gaborieau, V., Brennan, P., McKay, J., Slager, S., Toland, A. E., Ambrosone, C. B., Yannoukakos, D., Kabisch, M., Torres, D., Neuhausen, S. L., Anton-Culver, H., Luccarini, C., Baynes, C., Ahmed, S., Healey, C. S., Tessier, D. C., Vincent, D., Bacot, F., Pita, G., Alonso, M. R., Álvarez, N., Herrero, D., Simard, J., Pharoah, P. P. D. P., Kraft, P., Dunning, A. M., Chenevix-Trench, G., Hall, P., & Easton, D. F.
- Venue
- Nature Genetics
- Published
- 2015-03-09
- Volume
- 47
- Issue
- 4
- Pages
- 373-380
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W2002715948
- Cited by
- 598
- References
- 39
- FWCI
- 52.43
- Type
- journal article
- Language
- en
- Open access
- bronze
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. https://app.cochat.ai/papers/10.1038/ng.3242
- The paper
- BOCS, Michailidou, K., kConFab Investigators, AOCS Group, NBCS, GENICA Network, Beesley, J., Lindstrom, S., Canisius, S., Dennis, J., Lush, M. J., Maranian, M. J., Bolla, M. K., Wang, Q., Shah, M., Perkins, B. J., Czene, K., Eriksson, M., Darabi, H., . . . Easton, D. F. (2015). Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. Nature Genetics. https://doi.org/10.1038/ng.3242
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.