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Items: 21

1.

AIP inactivation leads to pituitary tumorigenesis through defective Gαi-cAMP signaling.

Tuominen I, Heliövaara E, Raitila A, Rautiainen MR, Mehine M, Katainen R, Donner I, Aittomäki V, Lehtonen HJ, Ahlsten M, Kivipelto L, Schalin-Jäntti C, Arola J, Hautaniemi S, Karhu A.

Oncogene. 2015 Feb 26;34(9):1174-84. doi: 10.1038/onc.2014.50. Epub 2014 Mar 24.

PMID:
24662816
2.

Prevalence of germline PTEN, BMPR1A, SMAD4, STK11, and ENG mutations in patients with moderate-load colorectal polyps.

Ngeow J, Heald B, Rybicki LA, Orloff MS, Chen JL, Liu X, Yerian L, Willis J, Lehtonen HJ, Lehtonen R, Mester JL, Moline J, Burke CA, Church J, Aaltonen LA, Eng C.

Gastroenterology. 2013 Jun;144(7):1402-9, 1409.e1-5. doi: 10.1053/j.gastro.2013.02.001. Epub 2013 Feb 8.

3.

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.

Br J Cancer. 2012 Nov 6;107(10):1761-5. doi: 10.1038/bjc.2012.428. Epub 2012 Sep 20.

4.

Segregation of a missense variant in enteric smooth muscle actin γ-2 with autosomal dominant familial visceral myopathy.

Lehtonen HJ, Sipponen T, Tojkander S, Karikoski R, Järvinen H, Laing NG, Lappalainen P, Aaltonen LA, Tuupanen S.

Gastroenterology. 2012 Dec;143(6):1482-1491.e3. doi: 10.1053/j.gastro.2012.08.045. Epub 2012 Sep 6.

PMID:
22960657
5.

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.

Science. 2011 Oct 14;334(6053):252-5. doi: 10.1126/science.1208930. Epub 2011 Aug 25.

6.

Aberrant succination of proteins in fumarate hydratase-deficient mice and HLRCC patients is a robust biomarker of mutation status.

Bardella C, El-Bahrawy M, Frizzell N, Adam J, Ternette N, Hatipoglu E, Howarth K, O'Flaherty L, Roberts I, Turner G, Taylor J, Giaslakiotis K, Macaulay VM, Harris AL, Chandra A, Lehtonen HJ, Launonen V, Aaltonen LA, Pugh CW, Mihai R, Trudgian D, Kessler B, Baynes JW, Ratcliffe PJ, Tomlinson IP, Pollard PJ.

J Pathol. 2011 Sep;225(1):4-11. doi: 10.1002/path.2932. Epub 2011 Jun 1.

PMID:
21630274
7.

Exome sequencing reveals germline NPAT mutation as a candidate risk factor for Hodgkin lymphoma.

Saarinen S, Aavikko M, Aittomäki K, Launonen V, Lehtonen R, Franssila K, Lehtonen HJ, Kaasinen E, Broderick P, Tarkkanen J, Bain BJ, Bauduer F, Ünal A, Swerdlow AJ, Cooke R, Mäkinen MJ, Houlston R, Vahteristo P, Aaltonen LA.

Blood. 2011 Jul 21;118(3):493-8. doi: 10.1182/blood-2011-03-341560. Epub 2011 May 11.

PMID:
21562039
8.

Candidate driver genes in microsatellite-unstable colorectal cancer.

Alhopuro P, Sammalkorpi H, Niittymäki I, Biström M, Raitila A, Saharinen J, Nousiainen K, Lehtonen HJ, Heliövaara E, Puhakka J, Tuupanen S, Sousa S, Seruca R, Ferreira AM, Hofstra RM, Mecklin JP, Järvinen H, Ristimäki A, Orntoft TF, Hautaniemi S, Arango D, Karhu A, Aaltonen LA.

Int J Cancer. 2012 Apr 1;130(7):1558-66. doi: 10.1002/ijc.26167. Epub 2011 Aug 3.

9.

Hereditary leiomyomatosis and renal cell cancer: update on clinical and molecular characteristics.

Lehtonen HJ.

Fam Cancer. 2011 Jun;10(2):397-411. doi: 10.1007/s10689-011-9428-z.

PMID:
21404119
10.

High frequency of TTK mutations in microsatellite-unstable colorectal cancer and evaluation of their effect on spindle assembly checkpoint.

Niittymäki I, Gylfe A, Laine L, Laakso M, Lehtonen HJ, Kondelin J, Tolvanen J, Nousiainen K, Pouwels J, Järvinen H, Nuorva K, Mecklin JP, Mäkinen M, Ristimäki A, Ørntoft TF, Hautaniemi S, Karhu A, Kallio MJ, Aaltonen LA.

Carcinogenesis. 2011 Mar;32(3):305-11. doi: 10.1093/carcin/bgq272. Epub 2010 Dec 16.

PMID:
21163887
11.

Mice with inactivation of aryl hydrocarbon receptor-interacting protein (Aip) display complete penetrance of pituitary adenomas with aberrant ARNT expression.

Raitila A, Lehtonen HJ, Arola J, Heliövaara E, Ahlsten M, Georgitsi M, Jalanko A, Paetau A, Aaltonen LA, Karhu A.

Am J Pathol. 2010 Oct;177(4):1969-76. doi: 10.2353/ajpath.2010.100138. Epub 2010 Aug 13.

12.

Mutations in the circadian gene CLOCK in colorectal cancer.

Alhopuro P, Björklund M, Sammalkorpi H, Turunen M, Tuupanen S, Biström M, Niittymäki I, Lehtonen HJ, Kivioja T, Launonen V, Saharinen J, Nousiainen K, Hautaniemi S, Nuorva K, Mecklin JP, Järvinen H, Orntoft T, Arango D, Lehtonen R, Karhu A, Taipale J, Aaltonen LA.

Mol Cancer Res. 2010 Jul;8(7):952-60. doi: 10.1158/1541-7786.MCR-10-0086. Epub 2010 Jun 15.

13.

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.

Genes Chromosomes Cancer. 2009 Jul;48(7):544-51. doi: 10.1002/gcc.20663.

PMID:
19373782
14.

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.

Cancer Genet Cytogenet. 2008 Jun;183(2):83-8. doi: 10.1016/j.cancergencyto.2008.01.010.

PMID:
18503824
15.

Stress-induced expression of a novel variant of human fumarate hydratase (FH).

Lehtonen HJ, Ylisaukko-Oja SK, Kiuru M, Karhu A, Lehtonen R, Vanharanta S, Jalanko A, Aaltonen LA, Launonen V.

Gene Expr. 2007;14(2):59-69.

16.

Increased HIF1 alpha in SDH and FH deficient tumors does not cause microsatellite instability.

Lehtonen HJ, Mäkinen MJ, Kiuru M, Laiho P, Herva R, van Minderhout I, Hogendoorn PC, Cornelisse C, Devilee P, Launonen V, Aaltonen LA.

Int J Cancer. 2007 Sep 15;121(6):1386-9.

17.

Conventional renal cancer in a patient with fumarate hydratase mutation.

Lehtonen HJ, Blanco I, Piulats JM, Herva R, Launonen V, Aaltonen LA.

Hum Pathol. 2007 May;38(5):793-6. Epub 2007 Jan 31.

PMID:
17270241
18.

Overexpression of EIF3S3 promotes cancer cell growth.

Savinainen KJ, Helenius MA, Lehtonen HJ, Visakorpi T.

Prostate. 2006 Aug 1;66(11):1144-50.

PMID:
16652384
19.

Analysis of fumarate hydratase mutations in a population-based series of early onset uterine leiomyosarcoma patients.

Ylisaukko-oja SK, Kiuru M, Lehtonen HJ, Lehtonen R, Pukkala E, Arola J, Launonen V, Aaltonen LA.

Int J Cancer. 2006 Jul 15;119(2):283-7.

20.

Distinct expression profile in fumarate-hydratase-deficient uterine fibroids.

Vanharanta S, Pollard PJ, Lehtonen HJ, Laiho P, Sjöberg J, Leminen A, Aittomäki K, Arola J, Kruhoffer M, Orntoft TF, Tomlinson IP, Kiuru M, Arango D, Aaltonen LA.

Hum Mol Genet. 2006 Jan 1;15(1):97-103. Epub 2005 Nov 30.

PMID:
16319128
21.

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.

J Med Genet. 2006 Jun;43(6):523-6. Epub 2005 Sep 9.

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