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3'RNA and whole-genome sequencing of archival uterine leiomyomas reveal a tumor subtype with chromosomal rearrangements affecting either HMGA2, HMGA1, or PLAG1.
Jokinen V, Mehine M, Reinikka S, Khamaiseh S, Ahvenainen T, Äyräväinen A, Härkki P, Bützow R, Pasanen A, Vahteristo P. Jokinen V, et al. Among authors: vahteristo p. Genes Chromosomes Cancer. 2023 Jan;62(1):27-38. doi: 10.1002/gcc.23088. Epub 2022 Aug 1. Genes Chromosomes Cancer. 2023. PMID: 35822448 Free PMC article.
Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer.
Koski TA, Lehtonen HJ, Jee KJ, Ninomiya S, Joosse SA, Vahteristo P, Kiuru M, Karhu A, Sammalkorpi H, Vanharanta S, Lehtonen R, Edgren H, Nederlof PM, Hietala M, Aittomäki K, Herva R, Knuutila S, Aaltonen LA, Launonen V. Koski TA, et al. Among authors: vahteristo p. Genes Chromosomes Cancer. 2009 Jul;48(7):544-51. doi: 10.1002/gcc.20663. Genes Chromosomes Cancer. 2009. PMID: 19373782
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: vahteristo p. Science. 2011 Oct 14;334(6053):252-5. doi: 10.1126/science.1208930. Epub 2011 Aug 25. Science. 2011. PMID: 21868628
Somatic MED12 mutations in uterine leiomyosarcoma and colorectal cancer.
Kämpjärvi K, Mäkinen N, Kilpivaara O, Arola J, Heinonen HR, Böhm J, Abdel-Wahab O, Lehtonen HJ, Pelttari LM, Mehine M, Schrewe H, Nevanlinna H, Levine RL, Hokland P, Böhling T, Mecklin JP, Bützow R, Aaltonen LA, Vahteristo P. Kämpjärvi K, et al. Among authors: vahteristo p. Br J Cancer. 2012 Nov 6;107(10):1761-5. doi: 10.1038/bjc.2012.428. Epub 2012 Sep 20. Br J Cancer. 2012. PMID: 23132392 Free PMC article.
MED12 exon 2 mutations in histopathological uterine leiomyoma variants.
Mäkinen N, Vahteristo P, Kämpjärvi K, Arola J, Bützow R, Aaltonen LA. Mäkinen N, et al. Among authors: vahteristo p. Eur J Hum Genet. 2013 Nov;21(11):1300-3. doi: 10.1038/ejhg.2013.33. Epub 2013 Feb 27. Eur J Hum Genet. 2013. PMID: 23443020 Free PMC article.
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: vahteristo p. 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.
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: vahteristo p. Hum Mutat. 2014 Sep;35(9):1136-41. doi: 10.1002/humu.22612. Epub 2014 Jul 21. Hum Mutat. 2014. PMID: 24980722
94 results