{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,25]],"date-time":"2026-09-25T08:21:58Z","timestamp":1790324518897,"version":"4.1.0"},"reference-count":36,"publisher":"Springer Science and Business Media LLC","issue":"8","license":[{"start":{"date-parts":[[2014,7,20]],"date-time":"2014-07-20T00:00:00Z","timestamp":1405814400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Nat Genet"],"published-print":{"date-parts":[[2014,8]]},"DOI":"10.1038\/ng.3037","type":"journal-article","created":{"date-parts":[[2014,7,16]],"date-time":"2014-07-16T07:42:18Z","timestamp":1405496538000},"page":"877-880","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":184,"title":["Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma"],"prefix":"10.1038","volume":"46","author":[{"given":"Weng Khong","family":"Lim","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6402-4288","authenticated-orcid":false,"given":"Choon Kiat","family":"Ong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jing","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aye Aye","family":"Thike","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cedric Chuan Young","family":"Ng","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vikneswari","family":"Rajasegaran","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Swe Swe","family":"Myint","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjanaa","family":"Nagarajan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nur Diyana Md","family":"Nasir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John R","family":"McPherson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ioana","family":"Cutcutache","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3443-3715","authenticated-orcid":false,"given":"Gregory","family":"Poore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Su Ting","family":"Tay","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei Siong","family":"Ooi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Veronique Kiak Mien","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mikael","family":"Hartman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kong Wee","family":"Ong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benita K T","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Steven G","family":"Rozen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Puay Hoon","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Patrick","family":"Tan","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bin Tean","family":"Teh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2014,7,20]]},"reference":[{"key":"BFng3037_CR1","doi-asserted-by":"publisher","first-page":"342","DOI":"10.1002\/1097-0142(20001225)90:6<342::AID-CNCR4>3.0.CO;2-I","volume":"90","author":"S Krishnamurthy","year":"2000","unstructured":"Krishnamurthy, S., Ashfaq, R., Shin, H.J.C. & Sneige, N. Distinction of phyllodes tumor from fibroadenoma. Cancer 90, 342\u2013349 (2000).","journal-title":"Cancer"},{"key":"BFng3037_CR2","doi-asserted-by":"publisher","first-page":"362","DOI":"10.1016\/S0002-9610(03)00263-0","volume":"186","author":"RE Fine","year":"2003","unstructured":"Fine, R.E. et al. Low-risk palpable breast masses removed using a vacuum-assisted hand-held device. Am. J. Surg. 186, 362\u2013367 (2003).","journal-title":"Am. J. Surg."},{"key":"BFng3037_CR3","doi-asserted-by":"publisher","first-page":"302","DOI":"10.1046\/j.1524-4741.2003.09410.x","volume":"9","author":"JRM Bernardes Jr.","year":"2003","unstructured":"Bernardes, J.R.M. Jr., Seixas, M.T., Lima, G.R., Marinho, L.C. & Gebrim, L.H. The effect of tamoxifen on PCNA expression in fibroadenomas. Breast J. 9, 302\u2013306 (2003).","journal-title":"Breast J."},{"key":"BFng3037_CR4","doi-asserted-by":"publisher","first-page":"599","DOI":"10.1093\/aje\/kwf094","volume":"156","author":"Z Coriaty Nelson","year":"2002","unstructured":"Coriaty Nelson, Z., Ray, R.M., Gao, D.L. & Thomas, D.B. Risk factors for fibroadenoma in a cohort of female textile workers in Shanghai, China. Am. J. Epidemiol. 156, 599\u2013605 (2002).","journal-title":"Am. J. Epidemiol."},{"key":"BFng3037_CR5","first-page":"4071","volume":"53","author":"S Noguchi","year":"1993","unstructured":"Noguchi, S., Motomura, K., Inaji, H., Imaoka, S. & Koyama, H. Clonal analysis of fibroadenoma and phyllodes tumor of the breast. Cancer Res. 53, 4071\u20134074 (1993).","journal-title":"Cancer Res."},{"key":"BFng3037_CR6","doi-asserted-by":"publisher","first-page":"10","DOI":"10.1056\/NEJM199407073310103","volume":"331","author":"WD Dupont","year":"1994","unstructured":"Dupont, W.D. et al. Long-term risk of breast cancer in women with fibroadenoma. N. Engl. J. Med. 331, 10\u201315 (1994).","journal-title":"N. Engl. J. Med."},{"key":"BFng3037_CR7","doi-asserted-by":"publisher","first-page":"147","DOI":"10.1177\/145749691110000302","volume":"100","author":"XF Liu","year":"2011","unstructured":"Liu, X.F. et al. A clinical study on the resection of breast fibroadenoma using two types of incision. Scand. J. Surg. 100, 147\u2013152 (2011).","journal-title":"Scand. J. Surg."},{"key":"BFng3037_CR8","doi-asserted-by":"crossref","unstructured":"The Cancer Genome Atlas Network. Comprehensive molecular portraits of human breast tumours. Nature 490, 61\u201370 (2012).","DOI":"10.1038\/nature11412"},{"key":"BFng3037_CR9","doi-asserted-by":"publisher","first-page":"400","DOI":"10.1038\/nature11017","volume":"486","author":"PJ Stephens","year":"2012","unstructured":"Stephens, P.J. et al. The landscape of cancer genes and mutational processes in breast cancer. Nature 486, 400\u2013404 (2012).","journal-title":"Nature"},{"key":"BFng3037_CR10","doi-asserted-by":"publisher","first-page":"2293","DOI":"10.1200\/JCO.1995.13.9.2293","volume":"13","author":"R Millikan","year":"1995","unstructured":"Millikan, R. et al. p53 mutations in benign breast tissue. J. Clin. Oncol. 13, 2293\u20132300 (1995).","journal-title":"J. Clin. Oncol."},{"key":"BFng3037_CR11","first-page":"7955","volume":"61","author":"N Franco","year":"2001","unstructured":"Franco, N., Picard, S.-F., Mege, F., Arnould, L. & Lizard-Nacol, S. Absence of genetic abnormalities in fibroadenomas of the breast determined at p53 gene mutations and microsatellite alterations. Cancer Res. 61, 7955\u20137958 (2001).","journal-title":"Cancer Res."},{"key":"BFng3037_CR12","doi-asserted-by":"publisher","first-page":"697","DOI":"10.2353\/jmoldx.2010.100008","volume":"12","author":"PA Vorkas","year":"2010","unstructured":"Vorkas, P.A. et al. PIK3CA hotspot mutation scanning by a novel and highly sensitive high-resolution small amplicon melting analysis method. J. Mol. Diagn. 12, 697\u2013704 (2010).","journal-title":"J. Mol. Diagn."},{"key":"BFng3037_CR13","doi-asserted-by":"publisher","first-page":"1546","DOI":"10.1126\/science.1235122","volume":"339","author":"B Vogelstein","year":"2013","unstructured":"Vogelstein, B. et al. Cancer genome landscapes. Science 339, 1546\u20131558 (2013).","journal-title":"Science"},{"key":"BFng3037_CR14","doi-asserted-by":"publisher","first-page":"252","DOI":"10.1126\/science.1208930","volume":"334","author":"N M\u00e4kinen","year":"2011","unstructured":"M\u00e4kinen, N. et al. MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas. Science 334, 252\u2013255 (2011).","journal-title":"Science"},{"key":"BFng3037_CR15","doi-asserted-by":"publisher","first-page":"D945","DOI":"10.1093\/nar\/gkq929","volume":"39","author":"SA Forbes","year":"2011","unstructured":"Forbes, S.A. et al. COSMIC: mining complete cancer genomes in the Catalogue of Somatic Mutations in Cancer. Nucleic Acids Res. 39, D945\u2013D950 (2011).","journal-title":"Nucleic Acids Res."},{"key":"BFng3037_CR16","doi-asserted-by":"publisher","first-page":"308","DOI":"10.1093\/nar\/29.1.308","volume":"29","author":"ST Sherry","year":"2001","unstructured":"Sherry, S.T. et al. dbSNP: the NCBI database of genetic variation. Nucleic Acids Res. 29, 308\u2013311 (2001).","journal-title":"Nucleic Acids Res."},{"key":"BFng3037_CR17","doi-asserted-by":"crossref","unstructured":"1000 Genomes Project Consortium. An integrated map of genetic variation from 1,092 human genomes. Nature 491, 56\u201365 (2012).","DOI":"10.1038\/nature11632"},{"key":"BFng3037_CR18","doi-asserted-by":"publisher","first-page":"169","DOI":"10.1007\/s00439-011-1013-x","volume":"130","author":"PS Harper","year":"2011","unstructured":"Harper, P.S. Mary Lyon and the hypothesis of random X chromosome inactivation. Hum. Genet. 130, 169\u2013174 (2011).","journal-title":"Hum. Genet."},{"key":"BFng3037_CR19","doi-asserted-by":"publisher","first-page":"15545","DOI":"10.1073\/pnas.0506580102","volume":"102","author":"A Subramanian","year":"2005","unstructured":"Subramanian, A. et al. Gene set enrichment analysis: a knowledge-based approach for interpreting genome-wide expression profiles. Proc. Natl. Acad. Sci. USA 102, 15545\u201315550 (2005).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng3037_CR20","doi-asserted-by":"publisher","first-page":"685","DOI":"10.1038\/ng.2279","volume":"44","author":"CE Barbieri","year":"2012","unstructured":"Barbieri, C.E. et al. Exome sequencing identifies recurrent SPOP, FOXA1 and MED12 mutations in prostate cancer. Nat. Genet. 44, 685\u2013689 (2012).","journal-title":"Nat. Genet."},{"key":"BFng3037_CR21","unstructured":"Assi\u00e9, G. et al. Integrated genomic characterization of adrenocortical carcinoma. Nat. Genet. 10.1038\/ng.2953 (2014)."},{"key":"BFng3037_CR22","doi-asserted-by":"crossref","unstructured":"Cancer Genome Atlas Research Network. Integrated genomic analyses of ovarian carcinoma. Nature 474, 609\u2013615 (2011).","DOI":"10.1038\/nature10166"},{"key":"BFng3037_CR23","doi-asserted-by":"publisher","first-page":"E1044","DOI":"10.1002\/ijc.27610","volume":"131","author":"EM Je","year":"2012","unstructured":"Je, E.M., Kim, M.R., Min, K.O., Yoo, N.J. & Lee, S.H. Mutational analysis of MED12 exon 2 in uterine leiomyoma and other common tumors. Int. J. Cancer 131, E1044\u2013E1047 (2012).","journal-title":"Int. J. Cancer"},{"key":"BFng3037_CR24","doi-asserted-by":"publisher","first-page":"1761","DOI":"10.1038\/bjc.2012.428","volume":"107","author":"K K\u00e4mpj\u00e4rvi","year":"2012","unstructured":"K\u00e4mpj\u00e4rvi, K. et al. Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer. Br. J. Cancer 107, 1761\u20131765 (2012).","journal-title":"Br. J. Cancer"},{"key":"BFng3037_CR25","doi-asserted-by":"publisher","first-page":"1","DOI":"10.1093\/carcin\/19.1.1","volume":"19","author":"BT Zhu","year":"1998","unstructured":"Zhu, B.T. & Conney, A.H. Functional role of estrogen metabolism in target cells: review and perspectives. Carcinogenesis 19, 1\u201327 (1998).","journal-title":"Carcinogenesis"},{"key":"BFng3037_CR26","doi-asserted-by":"publisher","first-page":"2642","DOI":"10.1073\/pnas.261715899","volume":"99","author":"YK Kang","year":"2002","unstructured":"Kang, Y.K., Guermah, M., Yuan, C.-X. & Roeder, R.G. The TRAP\/Mediator coactivator complex interacts directly with estrogen receptors \u03b1 and \u03b2 through the TRAP220 subunit and directly enhances estrogen receptor function in vitro. Proc. Natl. Acad. Sci. USA 99, 2642\u20132647 (2002).","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"BFng3037_CR27","doi-asserted-by":"publisher","first-page":"1008","DOI":"10.1002\/ijc.28410","volume":"134","author":"N M\u00e4kinen","year":"2014","unstructured":"M\u00e4kinen, N., Vahteristo, P., B\u00fctzow, R., Sj\u00f6berg, J. & Aaltonen, L.A. Exomic landscape of MED12 mutation\u2013negative and \u2013positive uterine leiomyomas. Int. J. Cancer 134, 1008\u20131012 (2014).","journal-title":"Int. J. Cancer"},{"key":"BFng3037_CR28","doi-asserted-by":"publisher","first-page":"1474","DOI":"10.1038\/ng.2806","volume":"45","author":"W Chan-On","year":"2013","unstructured":"Chan-On, W. et al. Exome sequencing identifies distinct mutational patterns in liver fluke-related and non\u2013infection-related bile duct cancers. Nat. Genet. 45, 1474\u20131478 (2013).","journal-title":"Nat. Genet."},{"key":"BFng3037_CR29","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li, H. & Durbin, R. Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 25, 1754\u20131760 (2009).","journal-title":"Bioinformatics"},{"key":"BFng3037_CR30","doi-asserted-by":"publisher","first-page":"2078","DOI":"10.1093\/bioinformatics\/btp352","volume":"25","author":"H Li","year":"2009","unstructured":"Li, H. et al. The Sequence Alignment\/Map format and SAMtools. Bioinformatics 25, 2078\u20132079 (2009).","journal-title":"Bioinformatics"},{"key":"BFng3037_CR31","doi-asserted-by":"publisher","first-page":"3683","DOI":"10.1093\/bioinformatics\/bti605","volume":"21","author":"CL Wilson","year":"2005","unstructured":"Wilson, C.L. & Miller, C.J. Simpleaffy: a BioConductor package for Affymetrix Quality Control and data analysis. Bioinformatics 21, 3683\u20133685 (2005).","journal-title":"Bioinformatics"},{"key":"BFng3037_CR32","doi-asserted-by":"publisher","first-page":"249","DOI":"10.1093\/biostatistics\/4.2.249","volume":"4","author":"RA Irizarry","year":"2003","unstructured":"Irizarry, R.A. et al. Exploration, normalization, and summaries of high density oligonucleotide array probe level data. Biostatistics 4, 249\u2013264 (2003).","journal-title":"Biostatistics"},{"key":"BFng3037_CR33","doi-asserted-by":"publisher","first-page":"e175","DOI":"10.1093\/nar\/gni179","volume":"33","author":"M Dai","year":"2005","unstructured":"Dai, M. et al. Evolving gene\/transcript definitions significantly alter the interpretation of GeneChip data. Nucleic Acids Res. 33, e175 (2005).","journal-title":"Nucleic Acids Res."},{"key":"BFng3037_CR34","doi-asserted-by":"publisher","first-page":"Article3","DOI":"10.2202\/1544-6115.1027","volume":"3","author":"GK Smyth","year":"2004","unstructured":"Smyth, G.K. Linear models and empirical Bayes methods for assessing differential expression in microarray experiments. Stat. Appl. Genet. Mol. Biol. 3, Article3 (2004).","journal-title":"Stat. Appl. Genet. Mol. Biol."},{"key":"BFng3037_CR35","doi-asserted-by":"publisher","first-page":"207","DOI":"10.1093\/nar\/30.1.207","volume":"30","author":"R Edgar","year":"2002","unstructured":"Edgar, R., Domrachev, M. & Lash, A.E. Gene Expression Omnibus: NCBI gene expression and hybridization array data repository. Nucleic Acids Res. 30, 207\u2013210 (2002).","journal-title":"Nucleic Acids Res."},{"key":"BFng3037_CR36","doi-asserted-by":"publisher","first-page":"7","DOI":"10.1186\/1471-2105-14-7","volume":"14","author":"S H\u00e4nzelmann","year":"2013","unstructured":"H\u00e4nzelmann, S., Castelo, R. & Guinney, J. GSVA: gene set variation analysis for microarray and RNA-Seq data. BMC Bioinformatics 14, 7 (2013).","journal-title":"BMC Bioinformatics"}],"container-title":["Nature Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.nature.com\/articles\/ng.3037.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng.3037","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.nature.com\/articles\/ng.3037.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,5,18]],"date-time":"2023-05-18T21:00:37Z","timestamp":1684443637000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.nature.com\/articles\/ng.3037"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014,7,20]]},"references-count":36,"journal-issue":{"issue":"8","published-print":{"date-parts":[[2014,8]]}},"alternative-id":["BFng3037"],"URL":"https:\/\/doi.org\/10.1038\/ng.3037","relation":{},"ISSN":["1061-4036","1546-1718"],"issn-type":[{"value":"1061-4036","type":"print"},{"value":"1546-1718","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014,7,20]]},"assertion":[{"value":"24 March 2014","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"24 June 2014","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"20 July 2014","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"The authors declare no competing financial interests.","order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}