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Germline mutations in FH predispose to dominantly inherited uterine fibroids, skin leiomyomata and papillary renal cell cancer.
Tomlinson IP, Alam NA, Rowan AJ, Barclay E, Jaeger EE, Kelsell D, Leigh I, Gorman P, Lamlum H, Rahman S, Roylance RR, Olpin S, Bevan S, Barker K, Hearle N, Houlston RS, Kiuru M, Lehtonen R, Karhu A, Vilkki S, Laiho P, Eklund C, Vierimaa O, Aittomäki K, Hietala M, Sistonen P, Paetau A, Salovaara R, Herva R, Launonen V, Aaltonen LA; Multiple Leiomyoma Consortium. Tomlinson IP, et al. Among authors: aittomaki k. Nat Genet. 2002 Apr;30(4):406-10. doi: 10.1038/ng849. Epub 2002 Feb 25. Nat Genet. 2002. PMID: 11865300
Hereditary breast cancer and handling of patients at risk.
Eerola H, Aittomäki K, Asko-Seljavaara S, Nevanlinna H, von Smitten K. Eerola H, et al. Among authors: aittomaki k. Scand J Surg. 2002;91(3):280-7. doi: 10.1177/145749690209100312. Scand J Surg. 2002. PMID: 12449472 Review.
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: aittomaki k. 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.
Inherited forms of renal cell carcinoma.
Kiuru M, Kujala M, Aittomäki K. Kiuru M, et al. Among authors: aittomaki k. Scand J Surg. 2004;93(2):103-11. doi: 10.1177/145749690409300204. Scand J Surg. 2004. PMID: 15285561 Review.
Increased risk of cancer in patients with fumarate hydratase germline mutation.
Lehtonen HJ, Kiuru M, Ylisaukko-Oja SK, Salovaara R, Herva R, Koivisto PA, Vierimaa O, Aittomäki K, Pukkala E, Launonen V, Aaltonen LA. Lehtonen HJ, et al. Among authors: aittomaki k. J Med Genet. 2006 Jun;43(6):523-6. doi: 10.1136/jmg.2005.036400. Epub 2005 Sep 9. J Med Genet. 2006. PMID: 16155190 Free PMC article.
BARD1 variants Cys557Ser and Val507Met in breast cancer predisposition.
Vahteristo P, Syrjäkoski K, Heikkinen T, Eerola H, Aittomäki K, von Smitten K, Holli K, Blomqvist C, Kallioniemi OP, Nevanlinna H. Vahteristo P, et al. Among authors: aittomaki k. Eur J Hum Genet. 2006 Feb;14(2):167-72. doi: 10.1038/sj.ejhg.5201542. Eur J Hum Genet. 2006. PMID: 16333312
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