The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Gene-Expression Profiles in Hereditary Breast Cancer
Abstract
BACKGROUND: Many cases of hereditary breast cancer are due to mutations in either the BRCA1 or the BRCA2 gene. The histopathological changes in these cancers are often characteristic of the mutant gene. We hypothesized that the genes expressed by these two types of tumors are also distinctive, perhaps allowing us to identify cases of hereditary breast cancer on the basis of gene-expression profiles. METHODS: RNA from samples of primary tumor from seven carriers of the BRCA1 mutation, seven carriers of the BRCA2 mutation, and seven patients with sporadic cases of breast cancer was compared with a microarray of 6512 complementary DNA clones of 5361 genes. Statistical analyses were used to identify a set of genes that could distinguish the BRCA1 genotype from the BRCA2 genotype. RESULTS: Permutation analysis of multivariate classification functions established that the gene-expression profiles of tumors with BRCA1 mutations, tumors with BRCA2 mutations, and sporadic tumors differed significantly from each other. An analysis of variance between the levels of gene expression and the genotype of the samples identified 176 genes that were differentially expressed in tumors with BRCA1 mutations and tumors with BRCA2 mutations. Given the known properties of some of the genes in this panel, our findings indicate that there are functional differences between breast tumors with BRCA1 mutations and those with BRCA2 mutations. CONCLUSIONS: Significantly different groups of genes are expressed by breast cancers with BRCA1 mutations and breast cancers with BRCA2 mutations. Our results suggest that a heritable mutation influences the gene-expression profile of the cancer.
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
Risks of cancer in BRCA1-mutation carriers
FORD, D. (1994) · The Lancet · doi:10.1016/s0140-6736(94)91578-4 · Cited by 1,850
Promoter Hypermethylation and BRCA1 Inactivation in Sporadic Breast and Ovarian Tumors
Esteller, M. (2000) · Journal of the National Cancer Institute · doi:10.1093/jnci/92.7.564 · Cited by 1,233
Self-citationBurke, W. (1997) · JAMA · doi:10.1001/jama.277.12.997 · Cited by 955
Survival and tumour characteristics of breast-cancer patients with germline mutations of BRCA1
Verhoog, L., Brekelmans, C., Seynaeve, C., van den Bosch, L., Dahmen, G., van Geel, A., Tilanus-Linthorst, M., Bartels, C., Wagner, A., van den Ouweland, A., et al. (1998) · The Lancet · doi:10.1016/s0140-6736(97)07065-7 · Cited by 452
Catteau, A., Harris, W. H., Xu, C.-F., & Solomon, E. (1999) · Oncogene · doi:10.1038/sj.onc.1202509 · Cited by 354
Research works printed but not linked: 35
- 10.1126/science.7545954 · DOI
- 10.1038/378789a0 · DOI
- Easton DF, 1995, Am J Hum Genet, 56, 265, 10.1002/ajmg.1320560305 · DOI · Paper page
- 10.1086/301749 · DOI · Paper page
- 10.1016/S0140-6736(98)03300-5 · DOI
- Szabo CI, 1997, Am J Hum Genet, 60, 1013
- 10.1073/pnas.97.17.9603 · DOI
- 10.1038/sj.onc.1200881 · DOI
- 10.1093/jnci/90.15.1138 · DOI · Paper page
- 10.1002/(SICI)1097-0142(19980715)83:2<310::AID-CNCR15>3.0.CO;2-W · DOI
- 10.1016/S0959-8049(97)89007-7 · DOI · Paper page
- 10.1002/(SICI)1097-0142(19970801)80:3<435::AID-CNCR11>3.0.CO;2-Y · DOI
- 10.1016/S0168-9525(99)01930-7 · DOI · Paper page
- Yu VPCC, 2000, Genes Dev, 14, 1400, 10.1101/gad.14.11.1400 · DOI · Paper page
- Tirkkonen M, 1997, Cancer Res, 57, 1222
- Hakansson S, 1997, Am J Hum Genet, 60, 1068
- 10.1038/35020115 · DOI · Paper page
- Kahn J, 1998, Cancer Res, 58, 5009
- 10.1038/ng1296-457 · DOI
- 10.1117/12.281504 · DOI · Paper page
- 10.1038/nm0798-844 · DOI · Paper page
- 10.1016/0197-2456(93)90225-3 · DOI
- 10.1016/S0140-6736(96)10109-4 · DOI · Paper page
- Lakhani SR, 2000, Clin Cancer Res, 6, 782
- 10.1111/j.1365-2559.1991.tb00229.x · DOI
- 10.1002/(SICI)1097-0142(19960215)77:4<697::AID-CNCR16>3.0.CO;2-W · DOI
- 10.1023/A:1005830230664 · DOI
- 10.1023/A:1005853022804 · DOI
- 10.1089/106652700750050943 · DOI · Paper page
- 10.1101/gad.10.12.1433 · DOI · Paper page
- 10.1006/bbrc.1998.9893 · DOI
- 10.1074/jbc.274.52.37461 · DOI
- 10.1093/nar/26.21.4975 · DOI
- 10.1038/35021093 · DOI · Paper page
- 10.1001/jama.283.5.617 · DOI
Cited by
Statistical significance for genomewide studies
Storey, J. D., & Tibshirani, R. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1530509100 · Cited by 9,692
Gene expression profiling predicts clinical outcome of breast cancer
van 't Veer, L. J., Dai, H., van de Vijver, M. J., He, Y. D., Hart, A. A. M., Mao, M., Peterse, H. L., van der Kooy, K., Marton, M. J., Witteveen, A. T., et al. (2002) · Nature · doi:10.1038/415530a · Cited by 9,536
The fundamental role of epigenetic events in cancer
Jones, P. A., & Baylin, S. B. (2002) · Nature Reviews Genetics · doi:10.1038/nrg816 · Cited by 5,648
Khan, J., Wei, J. S., Ringnér, M., Saal, L. H., Ladanyi, M., Westermann, F., Berthold, F., Schwab, M., Antonescu, C. R., Peterson, C., et al. (2001) · Nature Medicine · doi:10.1038/89044 · Cited by 2,644
Self-citationCapturing Heterogeneity in Gene Expression Studies by Surrogate Variable Analysis
Leek, J. T., & Storey, J. D. (2007) · PLoS Genetics · doi:10.1371/journal.pgen.0030161 · Cited by 1,930
Biclustering algorithms for biological data analysis: a survey
Madeira, S. C., & Oliveira, A. L. (2004) · IEEE/ACM Transactions on Computational Biology and Bioinformatics · doi:10.1109/tcbb.2004.2 · Cited by 2,049
Mutational Processes Molding the Genomes of 21 Breast Cancers
Nik-Zainal, S., Alexandrov, L. B., Wedge, D. C., Van Loo, P., Greenman, C. D., Raine, K., Jones, D., Hinton, J., Marshall, J., Stebbings, L. A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.04.024 · Cited by 1,909
Self-citationGene-expression profiles predict survival of patients with lung adenocarcinoma
Beer, D. G., Kardia, S. L. R., Huang, C.-C., Giordano, T. J., Levin, A. M., Misek, D. E., Lin, L., Chen, G., Gharib, T. G., Thomas, D. G., et al. (2002) · Nature Medicine · doi:10.1038/nm733 · Cited by 2,025
Cancer Susceptibility and the Functions of BRCA1 and BRCA2
Venkitaraman, A. R. (2002) · Cell · doi:10.1016/s0092-8674(02)00615-3 · Cited by 1,713
Kleer, C. G., Cao, Q., Varambally, S., Shen, R., Ota, I., Tomlins, S. A., Ghosh, D., Sewalt, R. G. A. B., Otte, A. P., Hayes, D. F., et al. (2003) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1933744100 · Cited by 1,649
Large-Scale Simultaneous Hypothesis Testing: The Choice of a Null Hypothesis
Efron, B. (2004) · Journal of the American Statistical Association · doi:10.1198/016214504000000089 · Cited by 1,005
BRCA1 and BRCA2: 1994 and beyond
Narod, S. A., & Foulkes, W. D. (2004) · Nature Reviews Cancer · doi:10.1038/nrc1431 · Cited by 967
Chromosome aberrations in solid tumors
Albertson, D. G., Collins, C., McCormick, F., & Gray, J. W. (2003) · Nature Genetics · doi:10.1038/ng1215 · Cited by 812
Coexpression Analysis of Human Genes Across Many Microarray Data Sets
Lee, H. K., Hsu, A. K., Sajdak, J., Qin, J., & Pavlidis, P. (2004) · Genome Research · doi:10.1101/gr.1910904 · Cited by 770
Epigenetic gene silencing in cancer: the DNA hypermethylome
Esteller, M. (2007) · Human Molecular Genetics · doi:10.1093/hmg/ddm018 · Cited by 725
Empirical Bayes methods and false discovery rates for microarrays
Efron, B., & Tibshirani, R. (2002) · Genetic Epidemiology · doi:10.1002/gepi.1124 · Cited by 684
Correlation and Large-Scale Simultaneous Significance Testing
Efron, B. (2007) · Journal of the American Statistical Association · doi:10.1198/016214506000001211 · Cited by 405
DNA Microarrays in Clinical Oncology
Ramaswamy, S., & Golub, T. R. (2002) · Journal of Clinical Oncology · doi:10.1200/jco.2002.20.7.1932 · Cited by 379
A general modular framework for gene set enrichment analysis
Ackermann, M., & Strimmer, K. (2009) · BMC Bioinformatics · doi:10.1186/1471-2105-10-47 · Cited by 358
Gene expression profiling of human sarcomas: insights into sarcoma biology.
Baird, K., Davis, S., Antonescu, C. R., Harper, U. L., Walker, R. L., Chen, Y., Glatfelter, A. A., Duray, P. H., & Meltzer, P. S. (2005) · Cancer Research · doi:10.1158/0008-5472.can-05-1699 · Cited by 353
Biomarkers for Homologous Recombination Deficiency in Cancer
Hoppe, M. M., Sundar, R., Tan, D. S. P., & Jeyasekharan, A. D. (2018) · JNCI: Journal of the National Cancer Institute · doi:10.1093/jnci/djy085 · Cited by 329
Saal, L. H., Vallon-Christersson, J., Häkkinen, J., Hegardt, C., Grabau, D., Winter, C., Brueffer, C., Tang, M.-H. E., Reuterswärd, C., Schulz, R., et al. (2015) · Genome Medicine · doi:10.1186/s13073-015-0131-9 · Cited by 255
Self-citationBrekelmans, C. T. M., Tilanus-Linthorst, M. M. A., Seynaeve, C., vd Ouweland, A., Menke-Pluymers, M. B. E., Bartels, C. C. M., Kriege, M., van Geel, A. N., Burger, C. W., Eggermont, A. M. M., et al. (2007) · European Journal of Cancer · doi:10.1016/j.ejca.2006.12.009 · Cited by 233
Bayesians, Frequentists, and Scientists
Efron, B. (2005) · Journal of the American Statistical Association · doi:10.1198/016214505000000033 · Cited by 201
Prognosis of BRCA-associated breast cancer: a summary of evidence
Bordeleau, L., Panchal, S., & Goodwin, P. (2010) · Breast Cancer Research and Treatment · doi:10.1007/s10549-009-0566-z · Cited by 135
Kirova, Y. M., Stoppa-Lyonnet, D., Savignoni, A., Sigal-Zafrani, B., Fabre, N., & Fourquet, A. (2005) · European Journal of Cancer · doi:10.1016/j.ejca.2005.02.037 · Cited by 129
Bokor, A., Kyama, C. M., Vercruysse, L., Fassbender, A., Gevaert, O., Vodolazkaia, A., De Moor, B., Fulop, V., & D'Hooghe, T. (2009) · Human Reproduction · doi:10.1093/humrep/dep283 · Cited by 128
Disrupted synaptic development in the hypoxic newborn brain
Curristin, S. M., Cao, A., Stewart, W. B., Zhang, H., Madri, J. A., Morrow, J. S., & Ment, L. R. (2002) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.232568799 · Cited by 125
Kirova, Y. M., Savignoni, A., Sigal-Zafrani, B., de La Rochefordiere, A., Salmon, R. J., This, P., Asselain, B., Stoppa-Lyonnet, D., & Fourquet, A. (2010) · Breast Cancer Research and Treatment · doi:10.1007/s10549-009-0685-6 · Cited by 102
Subtypes of familial breast tumours revealed by expression and copy number profiling
kConFab Investigators, Waddell, N., Arnold, J., Cocciardi, S., da Silva, L., Marsh, A., Riley, J., Johnstone, C. N., Orloff, M., Assie, G., et al. (2010) · Breast Cancer Research and Treatment · doi:10.1007/s10549-009-0653-1 · Cited by 99
Rydén, L., Loman, N., Larsson, C., Hegardt, C., Vallon-Christersson, J., Malmberg, M., Lindman, H., Ehinger, A., Saal, L. H., & Borg, Å. (2018) · British Journal of Surgery · doi:10.1002/bjs.10741 · Cited by 62
Self-citationImproving the Prediction of Response to Therapy in Autism
Bent, S., & Hendren, R. L. (2010) · Neurotherapeutics · doi:10.1016/j.nurt.2010.05.011 · Cited by 25
Lu, J., Wu, D., Li, C., Zhou, M., & Hao, D. (2014) · Journal of Molecular Medicine · doi:10.1007/s00109-014-1191-9 · Cited by 24
Metadata
- Authors
- Hedenfalk, I., Duggan, D., Chen, Y., Radmacher, M., Bittner, M., Simon, R., Meltzer, P., Gusterson, B., Esteller, M., Raffeld, M., Yakhini, Z., Ben-Dor, A., Dougherty, E., Kononen, J., Bubendorf, L., Fehrle, W., Pittaluga, S., Gruvberger, S., Loman, N., Johannsson, O., Olsson, H., Wilfond, B., Sauter, G., Kallioniemi, O.-P., Borg, Å., & Trent, J.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2001-02-22
- Volume
- 344
- Issue
- 8
- Pages
- 539-548
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2008233728
- Cited by
- 1,733
- References
- 5
- FWCI
- 91.62
- Type
- journal article
- Language
- en
- Open access
- closed
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
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.