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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: herva r. Nat Genet. 2002 Apr;30(4):406-10. doi: 10.1038/ng849. Epub 2002 Feb 25. Nat Genet. 2002. PMID: 11865300
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: herva r. 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.
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: herva r. Cancer Genet Cytogenet. 2008 Jun;183(2):83-8. doi: 10.1016/j.cancergencyto.2008.01.010. Cancer Genet Cytogenet. 2008. PMID: 18503824
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: herva r. Genes Chromosomes Cancer. 2009 Jul;48(7):544-51. doi: 10.1002/gcc.20663. Genes Chromosomes Cancer. 2009. PMID: 19373782
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. Among authors: herva r. Fam Cancer. 2010 Jun;9(2):245-51. doi: 10.1007/s10689-009-9312-2. Fam Cancer. 2010. PMID: 20091131
Inherited susceptibility to uterine leiomyomas and renal cell cancer.
Launonen V, Vierimaa O, Kiuru M, Isola J, Roth S, Pukkala E, Sistonen P, Herva R, Aaltonen LA. Launonen V, et al. Among authors: herva r. Proc Natl Acad Sci U S A. 2001 Mar 13;98(6):3387-92. doi: 10.1073/pnas.051633798. Epub 2001 Feb 27. Proc Natl Acad Sci U S A. 2001. PMID: 11248088 Free PMC article.
149 results