The DOI matches its Crossref record; 5 of the 5 references it cites were found in a registry or an index.
Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer
Abstract
Prostate cancer is the second most common cancer in men worldwide and causes over 250,000 deaths each year. Overtreatment of indolent disease also results in significant morbidity. Common genetic alterations in prostate cancer include losses of NKX3.1 (8p21) and PTEN (10q23), gains of AR (the androgen receptor gene) and fusion of ETS family transcription factor genes with androgen-responsive promoters. Recurrent somatic base-pair substitutions are believed to be less contributory in prostate tumorigenesis but have not been systematically analyzed in large cohorts. Here, we sequenced the exomes of 112 prostate tumor and normal tissue pairs. New recurrent mutations were identified in multiple genes, including MED12 and FOXA1. SPOP was the most frequently mutated gene, with mutations involving the SPOP substrate-binding cleft in 6-15% of tumors across multiple independent cohorts. Prostate cancers with mutant SPOP lacked ETS family gene rearrangements and showed a distinct pattern of genomic alterations. Thus, SPOP mutations may define a new molecular subtype of prostate 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
Li, J., Yen, C., Liaw, D., Podsypanina, K., Bose, S., Wang, S. I., Puc, J., Miliaresis, C., Rodgers, L., McCombie, R., et al. (1997) · Science · doi:10.1126/science.275.5308.1943 · Cited by 4,785
Recurrent Fusion of TMPRSS2 and ETS Transcription Factor Genes in Prostate Cancer
Tomlins, S. A., Rhodes, D. R., Perner, S., Dhanasekaran, S. M., Mehra, R., Sun, X.-W., Varambally, S., Cao, X., Tchinda, J., Kuefer, R., et al. (2005) · Science · doi:10.1126/science.1117679 · Cited by 3,846
Self-citationmiRBase: integrating microRNA annotation and deep-sequencing data
Kozomara, A., & Griffiths-Jones, S. (2011) · Nucleic Acids Research · doi:10.1093/nar/gkq1027 · Cited by 3,634
In vivo amplification of the androgen receptor gene and progression of human prostate cancer
Visakorpi, T., Hyytinen, E., Koivisto, P., Tanner, M., Keinänen, R., Palmberg, C., Palotie, A., Tammela, T., Isola, J., & Kallioniemi, O.-P. (1995) · Nature Genetics · doi:10.1038/ng0495-401 · Cited by 1,484
Zhuang, M., Calabrese, M. F., Liu, J., Waddell, M. B., Nourse, A., Hammel, M., Miller, D. J., Walden, H., Duda, D. M., Seyedin, S. N., et al. (2009) · Molecular Cell · doi:10.1016/j.molcel.2009.09.022 · Cited by 486
Cited by
Signatures of mutational processes in human cancer
Initiative, A. P. C. G., Alexandrov, L. B., ICGC Breast Cancer Consortium, ICGC MMML-Seq Consortium, PedBrain, I., Nik-Zainal, S., Wedge, D. C., Aparicio, S. A. J. R., Behjati, S., Biankin, A. V., et al. (2013) · Nature · doi:10.1038/nature12477 · Cited by 9,660
Self-citationIntegrative Clinical Genomics of Advanced Prostate Cancer
Robinson, D., Van Allen, E. M., Wu, Y.-M., Schultz, N., Lonigro, R. J., Mosquera, J.-M., Montgomery, B., Taplin, M.-E., Pritchard, C. C., Attard, G., et al. (2015) · Cell · doi:10.1016/j.cell.2015.05.001 · Cited by 3,645
Comprehensive Characterization of Cancer Driver Genes and Mutations
Bailey, M. H., Tokheim, C., Porta-Pardo, E., Sengupta, S., Bertrand, D., Weerasinghe, A., Colaprico, A., Wendl, M. C., Kim, J., Reardon, B., et al. (2018) · Cell · doi:10.1016/j.cell.2018.02.060 · Cited by 2,256
Self-citationOrganoid Cultures Derived from Patients with Advanced Prostate Cancer
Gao, D., Vela, I., Sboner, A., Iaquinta, P. J., Karthaus, W. R., Gopalan, A., Dowling, C., Wanjala, J. N., Undvall, E. A., Arora, V. K., et al. (2014) · Cell · doi:10.1016/j.cell.2014.08.016 · Cited by 1,559
Emerging mechanisms of resistance to androgen receptor inhibitors in prostate cancer
Watson, P. A., Arora, V. K., & Sawyers, C. L. (2015) · Nature Reviews Cancer · doi:10.1038/nrc4016 · Cited by 1,536
Genomic correlates of clinical outcome in advanced prostate cancer
Abida, W., Cyrta, J., Heller, G., Prandi, D., Armenia, J., Coleman, I., Cieslik, M., Benelli, M., Robinson, D., Van Allen, E. M., et al. (2019) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1902651116 · Cited by 1,372
Self-citationPredicting immunogenic tumour mutations by combining mass spectrometry and exome sequencing
Yadav, M., Jhunjhunwala, S., Phung, Q. T., Lupardus, P., Tanguay, J., Bumbaca, S., Franci, C., Cheung, T. K., Fritsche, J., Weinschenk, T., et al. (2014) · Nature · doi:10.1038/nature14001 · Cited by 1,186
Whole-exome sequencing of pancreatic cancer defines genetic diversity and therapeutic targets
Witkiewicz, A. K., McMillan, E. A., Balaji, U., Baek, G., Lin, W.-C., Mansour, J., Mollaee, M., Wagner, K.-U., Koduru, P., Yopp, A., et al. (2015) · Nature Communications · doi:10.1038/ncomms7744 · Cited by 1,115
Cyclin D–CDK4 kinase destabilizes PD-L1 via cullin 3–SPOP to control cancer immune surveillance
Zhang, J., Bu, X., Wang, H., Zhu, Y., Geng, Y., Nihira, N. T., Tan, Y., Ci, Y., Wu, F., Dai, X., et al. (2018) · Nature · doi:10.1038/nature25015 · Cited by 1,013
The Mediator complex: a central integrator of transcription
Allen, B. L., & Taatjes, D. J. (2015) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm3951 · Cited by 922
Genomic Hallmarks and Structural Variation in Metastatic Prostate Cancer
Quigley, D. A., Dang, H. X., Zhao, S. G., Lloyd, P., Aggarwal, R., Alumkal, J. J., Foye, A., Kothari, V., Perry, M. D., Bailey, A. M., et al. (2018) · Cell · doi:10.1016/j.cell.2018.06.039 · Cited by 733
“ETS gene family activations weremutually exclusive with activating alterations in the RAS/MAPK pathway members (p = 0.01, Fisher’s exact test) and with inactivation of SPOP and CHD1 (Barbieri et al., 2012; Burkhardt et al., 2013; Huang et al., 2012).”
InfluentialIntegrated genomic characterization of adrenocortical carcinoma
Assié, G., Letouzé, E., Fassnacht, M., Jouinot, A., Luscap, W., Barreau, O., Omeiri, H., Rodriguez, S., Perlemoine, K., René-Corail, F., et al. (2014) · Nature Genetics · doi:10.1038/ng.2953 · Cited by 732
Forkhead box proteins: tuning forks for transcriptional harmony.
Lam, E. W.-F., Brosens, J. J., Gomes, A. R., & Koo, C.-Y. (2013) · Nature Reviews Cancer · doi:10.1038/nrc3539 · Cited by 684
Sartor, O., & de Bono, J. S. (2018) · New England Journal of Medicine · doi:10.1056/nejmra1701695 · Cited by 546
Abida, W., Armenia, J., Gopalan, A., Brennan, R., Walsh, M., Barron, D., Danila, D., Rathkopf, D., Morris, M., Slovin, S., et al. (2017) · JCO Precision Oncology · doi:10.1200/po.17.00029 · Cited by 541
Self-citationMutational signatures: the patterns of somatic mutations hidden in cancer genomes
Alexandrov, L. B., & Stratton, M. R. (2014) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2013.11.014 · Cited by 488
The androgen receptor cistrome is extensively reprogrammed in human prostate tumorigenesis
Pomerantz, M. M., Li, F., Takeda, D. Y., Lenci, R., Chonkar, A., Chabot, M., Cejas, P., Vazquez, F., Cook, J., Shivdasani, R. A., et al. (2015) · Nature Genetics · doi:10.1038/ng.3419 · Cited by 470
Self-citationMED12 Controls the Response to Multiple Cancer Drugs through Regulation of TGF-β Receptor Signaling
Huang, S., Hölzel, M., Knijnenburg, T., Schlicker, A., Roepman, P., McDermott, U., Garnett, M., Grernrum, W., Sun, C., Prahallad, A., et al. (2012) · Cell · doi:10.1016/j.cell.2012.10.035 · Cited by 430
Viswanathan, S. R., Ha, G., Hoff, A. M., Wala, J. A., Carrot-Zhang, J., Whelan, C. W., Haradhvala, N. J., Freeman, S. S., Reed, S. C., Rhoades, J., et al. (2018) · Cell · doi:10.1016/j.cell.2018.05.036 · Cited by 365
Genomic Heterogeneity as a Barrier to Precision Medicine in Gastroesophageal Adenocarcinoma
Pectasides, E., Stachler, M. D., Derks, S., Liu, Y., Maron, S., Islam, M., Alpert, L., Kwak, H., Kindler, H., Polite, B., et al. (2018) · Cancer Discovery · doi:10.1158/2159-8290.cd-17-0395 · Cited by 307
Distinct structural classes of activating FOXA1 alterations in advanced prostate cancer
Parolia, A., Cieslik, M., Chu, S.-C., Xiao, L., Ouchi, T., Zhang, Y., Wang, X., Vats, P., Cao, X., Pitchiaya, S., et al. (2019) · Nature · doi:10.1038/s41586-019-1347-4 · Cited by 284
Bersten, D. C., Sullivan, A. E., Peet, D. J., & Whitelaw, M. L. (2013) · Nature Reviews Cancer · doi:10.1038/nrc3621 · Cited by 267
Translational AI and deep learning in diagnostic pathology
Serag, A., Ion-Margineanu, A., Qureshi, H., McMillan, R., Saint Martin, M.-J., Diamond, J., O'Reilly, P., & Hamilton, P. (2019) · Frontiers in Medicine · doi:10.3389/fmed.2019.00185 · Cited by 274
A Pan-cancer Transcriptome Analysis Reveals Pervasive Regulation through Alternative Promoters
Demircioğlu, D., Cukuroglu, E., Kindermans, M., Nandi, T., Calabrese, C., Fonseca, N. A., Kahles, A., Lehmann, K.-V., Stegle, O., Brazma, A., et al. (2019) · Cell · doi:10.1016/j.cell.2019.08.018 · Cited by 250
Blattner, M., Liu, D., Robinson, B. D., Huang, D., Poliakov, A., Gao, D., Nataraj, S., Deonarine, L. D., Augello, M. A., Sailer, V., et al. (2017) · Cancer Cell · doi:10.1016/j.ccell.2017.02.004 · Cited by 204
Self-citationA prospective investigation of PTEN loss and ERG expression in lethal prostate cancer
Ahearn, T. U., Pettersson, A., Ebot, E. M., Gerke, T., Graff, R. E., Morais, C. L., Hicks, J. L., Wilson, K. M., Rider, J. R., Sesso, H. D., et al. (2015) · Journal of the National Cancer Institute · doi:10.1093/jnci/djv346 · Cited by 186
Cell-fate determination by ubiquitin-dependent regulation of translation
Werner, A., Iwasaki, S., McGourty, C. A., Medina-Ruiz, S., Teerikorpi, N., Fedrigo, I., Ingolia, N. T., & Rape, M. (2015) · Nature · doi:10.1038/nature14978 · Cited by 184
Integrative epigenetic taxonomy of primary prostate cancer
Stelloo, S., Nevedomskaya, E., Kim, Y., Schuurman, K., Valle-Encinas, E., Lobo, J., Krijgsman, O., Peeper, D. S., Chang, S. L., Feng, F. Y.-C., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-07270-2 · Cited by 154
Li, X., Baek, G., Ramanand, S. G., Sharp, A., Gao, Y., Yuan, W., Welti, J., Rodrigues, D. N., Dolling, D., Figueiredo, I., et al. (2018) · Cell Reports · doi:10.1016/j.celrep.2017.12.078 · Cited by 148
SPOP-Mutated/CHD1-Deleted Lethal Prostate Cancer and Abiraterone Sensitivity
Boysen, G., Rodrigues, D. N., Rescigno, P., Seed, G., Dolling, D., Riisnaes, R., Crespo, M., Zafeiriou, Z., Sumanasuriya, S., Bianchini, D., et al. (2018) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-18-0937 · Cited by 145
Self-citationUnderstanding mutagenesis through delineation of mutational signatures in human cancer
Petljak, M., & Alexandrov, L. B. (2016) · Carcinogenesis · doi:10.1093/carcin/bgw055 · Cited by 110
Heterogeneity in the inter-tumor transcriptome of high risk prostate cancer
Wyatt, A. W., Mo, F., Wang, K., McConeghy, B., Brahmbhatt, S., Jong, L., Mitchell, D. M., Johnston, R. L., Haegert, A., Li, E., et al. (2014) · Genome Biology · doi:10.1186/s13059-014-0426-y · Cited by 82
Yan, Y., An, J., Yang, Y., Wu, D., Bai, Y., Cao, W., Ma, L., Chen, J., Yu, Z., He, Y., et al. (2018) · EMBO Molecular Medicine · doi:10.15252/emmm.201708478 · Cited by 53
Park, E. S., Yan, J. P., Ang, R. A., Lee, J. H., Deng, X., Duffy, S. P., Beja, K., Annala, M., Black, P. C., Chi, K. N., et al. (2018) · Lab on a Chip · doi:10.1039/c8lc00184g · Cited by 34
Inherited determinants of early recurrent somatic mutations in prostate cancer
Romanel, A., Garritano, S., Stringa, B., Blattner, M., Dalfovo, D., Chakravarty, D., Soong, D., Cotter, K. A., Petris, G., Dhingra, P., et al. (2017) · Nature Communications · doi:10.1038/s41467-017-00046-0 · Cited by 29
Self-citationUnraveling the Global Proteome and Phosphoproteome of Prostate Cancer Patient-Derived Xenografts
Sychev, Z. E., Day, A., Bergom, H. E., Larson, G., Ali, A., Ludwig, M., Boytim, E., Coleman, I., Corey, E., Plymate, S. R., et al. (2024) · Molecular Cancer Research · doi:10.1158/1541-7786.mcr-23-0976 · Cited by 13
Self-citationHwang, J., Likasitwatanakul, P., Deshmukh, S. K., Wu, S., Kwon, J. J., Toye, E., Moline, D., Evans, M. G., Elliott, A., Passow, R., et al. (2025) · Clinical Cancer Research · doi:10.1158/1078-0432.ccr-24-3471 · Cited by 12
Self-citation
Metadata
- Authors
- Barbieri, C. E., Baca, S. C., Lawrence, M. S., Demichelis, F., Blattner, M., Theurillat, J.-P., White, T. A., Stojanov, P., Van Allen, E., Stransky, N., Nickerson, E., Chae, S.-S., Boysen, G., Auclair, D., Onofrio, R. C., Park, K., Kitabayashi, N., MacDonald, T. Y., Sheikh, K., Vuong, T., Guiducci, C., Cibulskis, K., Sivachenko, A., Carter, S. L., Saksena, G., Voet, D., Hussain, W. M., Ramos, A. H., Winckler, W., Redman, M. C., Ardlie, K., Tewari, A. K., Mosquera, J. M., Rupp, N., Wild, P. J., Moch, H., Morrissey, C., Nelson, P. S., Kantoff, P. W., Gabriel, S. B., Golub, T. R., Meyerson, M., Lander, E. S., Getz, G., Rubin, M. A., & Garraway, L. A.
- Venue
- Nature Genetics
- Published
- 2012-05-20
- Volume
- 44
- Issue
- 6
- Pages
- 685-689
- ISSN
- 1061-4036
- 1546-1718
- OpenAlex
- W1994847090
- Cited by
- 1,558
- References
- 5
- FWCI
- 102.21
- 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.
