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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: vahteristo p. Hum Mutat. 2014 Sep;35(9):1136-41. doi: 10.1002/humu.22612. Epub 2014 Jul 21. Hum Mutat. 2014. PMID: 24980722
The MDM2 promoter polymorphism SNP309T-->G and the risk of uterine leiomyosarcoma, colorectal cancer, and squamous cell carcinoma of the head and neck.
Alhopuro P, Ylisaukko-Oja SK, Koskinen WJ, Bono P, Arola J, Järvinen HJ, Mecklin JP, Atula T, Kontio R, Mäkitie AA, Suominen S, Leivo I, Vahteristo P, Aaltonen LM, Aaltonen LA. Alhopuro P, et al. Among authors: vahteristo p. J Med Genet. 2005 Sep;42(9):694-8. doi: 10.1136/jmg.2005.031260. J Med Genet. 2005. PMID: 16141004 Free PMC article.
ARLTS1 germline variants and the risk for breast, prostate, and colorectal cancer.
Siltanen S, Syrjäkoski K, Fagerholm R, Ikonen T, Lipman P, Mallott J, Holli K, Tammela TL, Järvinen HJ, Mecklin JP, Aittomäki K, Blomqvist C, Bailey-Wilson JE, Nevanlinna H, Aaltonen LA, Schleutker J, Vahteristo P. Siltanen S, et al. Among authors: vahteristo p. Eur J Hum Genet. 2008 Aug;16(8):983-91. doi: 10.1038/ejhg.2008.43. Epub 2008 Mar 12. Eur J Hum Genet. 2008. PMID: 18337727 Free PMC article.
Mutation screening of fumarate hydratase by multiplex ligation-dependent probe amplification: detection of exonic deletion in a patient with leiomyomatosis and renal cell cancer.
Ahvenainen T, Lehtonen HJ, Lehtonen R, Vahteristo P, Aittomäki K, Baynam G, Dommering C, Eng C, Gruber SB, Grönberg H, Harvima R, Herva R, Hietala M, Kujala M, Kääriäinen H, Sunde L, Vierimaa O, Pollard PJ, Tomlinson IP, Björck E, Aaltonen LA, Launonen V. Ahvenainen T, et al. Among authors: vahteristo p. Cancer Genet Cytogenet. 2008 Jun;183(2):83-8. doi: 10.1016/j.cancergencyto.2008.01.010. Cancer Genet Cytogenet. 2008. PMID: 18503824
No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome.
Vahteristo P, Koski TA, Näätsaari L, Kiuru M, Karhu A, Herva R, Sallinen SL, Vierimaa O, Björck E, Richard S, Gardie B, Bessis D, Van Glabeke E, Blanco I, Houlston R, Senter L, Hietala M, Aittomäki K, Aaltonen LA, Launonen V, Lehtonen R. Vahteristo P, et al. Fam Cancer. 2010 Jun;9(2):245-51. doi: 10.1007/s10689-009-9312-2. Fam Cancer. 2010. PMID: 20091131
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
94 results