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Mutations in Exon 1 highlight the role of MED12 in uterine leiomyomas.
Kämpjärvi K, Park MJ, Mehine M, Kim NH, Clark AD, Bützow R, Böhling T, Böhm J, Mecklin JP, Järvinen H, Tomlinson IP, van der Spuy ZM, Sjöberg J, Boyer TG, Vahteristo P. Kämpjärvi K, et al. Among authors: sjoberg j. Hum Mutat. 2014 Sep;35(9):1136-41. doi: 10.1002/humu.22612. Epub 2014 Jul 21. Hum Mutat. 2014. PMID: 24980722
MED12, the mediator complex subunit 12 gene, is mutated at high frequency in uterine leiomyomas.
Mäkinen N, Mehine M, Tolvanen J, Kaasinen E, Li Y, Lehtonen HJ, Gentile M, Yan J, Enge M, Taipale M, Aavikko M, Katainen R, Virolainen E, Böhling T, Koski TA, Launonen V, Sjöberg J, Taipale J, Vahteristo P, Aaltonen LA. Mäkinen N, et al. Among authors: sjoberg j. Science. 2011 Oct 14;334(6053):252-5. doi: 10.1126/science.1208930. Epub 2011 Aug 25. Science. 2011. PMID: 21868628
Characterization of uterine leiomyomas by whole-genome sequencing.
Mehine M, Kaasinen E, Mäkinen N, Katainen R, Kämpjärvi K, Pitkänen E, Heinonen HR, Bützow R, Kilpivaara O, Kuosmanen A, Ristolainen H, Gentile M, Sjöberg J, Vahteristo P, Aaltonen LA. Mehine M, et al. Among authors: sjoberg j. N Engl J Med. 2013 Jul 4;369(1):43-53. doi: 10.1056/NEJMoa1302736. Epub 2013 Jun 5. N Engl J Med. 2013. PMID: 23738515 Free article.
MED12 mutation frequency in unselected sporadic uterine leiomyomas.
Heinonen HR, Sarvilinna NS, Sjöberg J, Kämpjärvi K, Pitkänen E, Vahteristo P, Mäkinen N, Aaltonen LA. Heinonen HR, et al. Among authors: sjoberg j. Fertil Steril. 2014 Oct;102(4):1137-42. doi: 10.1016/j.fertnstert.2014.06.040. Epub 2014 Aug 6. Fertil Steril. 2014. PMID: 25108465 Free article.
MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas.
Kämpjärvi K, Mäkinen N, Mehine M, Välipakka S, Uimari O, Pitkänen E, Heinonen HR, Heikkinen T, Tolvanen J, Ahtikoski A, Frizzell N, Sarvilinna N, Sjöberg J, Bützow R, Aaltonen LA, Vahteristo P. Kämpjärvi K, et al. Among authors: sjoberg j. Br J Cancer. 2016 Jun 14;114(12):1405-11. doi: 10.1038/bjc.2016.130. Epub 2016 May 17. Br J Cancer. 2016. PMID: 27187686 Free PMC article.
Biallelic inactivation of fumarate hydratase (FH) occurs in nonsyndromic uterine leiomyomas but is rare in other tumors.
Lehtonen R, Kiuru M, Vanharanta S, Sjöberg J, Aaltonen LM, Aittomäki K, Arola J, Butzow R, Eng C, Husgafvel-Pursiainen K, Isola J, Järvinen H, Koivisto P, Mecklin JP, Peltomäki P, Salovaara R, Wasenius VM, Karhu A, Launonen V, Nupponen NN, Aaltonen LA. Lehtonen R, et al. Among authors: sjoberg j. Am J Pathol. 2004 Jan;164(1):17-22. doi: 10.1016/S0002-9440(10)63091-X. Am J Pathol. 2004. PMID: 14695314 Free PMC article.
171 results