Photo of Lauri Aaltonen

Lauri Aaltonen, Professor

  • PL 63 (Haartmaninkatu 8)

    00014

    Finland

1992 …2020
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Publications 1992 2020

2009

An A13 repeat within the 3'-untranslated region of epidermal growth factor receptor (EGFR) is frequently mutated in microsatellite instability colon cancers and is associated with increased EGFR expression

Yuan, Z., Shin, J., Wilson, A., Goel, S., Ling, Y-H., Ahmed, N., Dopeso, H., Jhawer, M., Nasser, S., Montagna, C., Fordyce, K., Augenlicht, L. H., Aaltonen, L. A., Arango, D., Weber, T. K. & Mariadason, J. M., 2009, In : Cancer Research. 69, 29, p. 7811-7818 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Array comparative genomic hybridization identifies a distinct DNA copy number profile in renal cell cancer associated with hereditary leiomyomatosis and renal cell cancer

Koski, T. A., Lehtonen, H. J., Jee, K. J., Ninomiya, S., Joosse, S. A., Vahteristo, P., Kiuru, M., Karhu, A., Sammalkorpi, H., Vanharanta, S., Lehtonen, R., Edgren, S. H. T., Nederlof, P. M., Hietala, M., Aittomäki, K., Herva, R., Knuutila, S., Aaltonen, L. A. & Launonen, V., 2009, In : Genes, Chromosomes & Cancer. 48, 7, p. 544-551 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Aryl hydrocarbon receptor interacting protein mutations seem not to associate with familial non-medullary thyroid cancer

Raitila, A., Georgitsi, M., Bonora, E., Vargiolu, M., Tuppurainen, K., Mäkinen, M. J., Vierimaa, O., Salmela, P. I., Launonen, V., Vahteristo, P., Aaltonen, L. A., Romeo, G. & Karhu, A., 2009, In : Journal of Endocrinological Investigation. 32, 5, p. 426-429 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Downregulation of SRF-FOS-JUNB pathway in fumarate hydratase deficiency and in uterine leiomyomas

Raimundo, N., Vanharanta, S., Aaltonen, L. A., Hovatta, I. & Suomalainen, A., 2009, In : Oncogene. 28, 9, p. 1261-1273 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Dysregulation of the transcription factors SOX4, CBFB and SMARCC1 correlates with outcome of colorectal cancer

Andersen, C. L., Christensen, L. L., Thorsen, K., Schepeler, T., Sorensen, F. B., Verspaget, H. W., Simon, R., Kruhoffer, M., Aaltonen, L. A., Laurberg, S. & Ørntoft, T. F., 2009, In : British Journal of Cancer. 100, 3, p. 511-523 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Metastasis-Associated Gene Expression Changes Predict Poor Outcomes in Patients with Dukes Stage B and C Colorectal Cancer

Jorissen, R. N., Gibbs, P., Christie, M., Prakash, S., Lipton, L., Desai, J., Kerr, D., Aaltonen, L. A., Arango, D., Kruhoffer, M., Orntoft, T. F., Andersen, C. L., Gruidl, M., Kamath, V. P., Eschrich, S., Yeatman, T. J. & Sieber, O. M., 2009, In : Clinical Cancer Research. 15, p. 7642-7651 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Mutation analysis of MEN1, HRPT2, CASR, CDKN1B, and AIP genes in primary hyperparathyroidism patients with features of genetic predisposition

Vierimaa, O., Villablanca, A., Alimov, A., Georgitsi, M., Raitila, A., Vahteristo, P., Larsson, C., Ruokonen, A., Eloranta, E., Ebeling, T. M. L., Ignatius, J., Aaltonen, L. A., Leisti, J. & Salmela, P. I., 2009, In : Journal of Endocrinological Investigation. 32, 6, p. 512-518 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Ten years after mutation testing for Lynch syndrome: cancer incidence and outcome in mutation-positive and mutation-negative family members

Järvinen, H. J., Renkonen-Sinisalo, L., Aktan-Collan, K., Peltomäki, P., Aaltonen, L. A. & Mecklin, J-P., 2009, In : Journal of Clinical Oncology. 27, 28, p. 4793-4797 5 p.

Research output: Contribution to journalArticleScientificpeer-review

The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling

Tuupanen, S., Turunen, M., Lehtonen, R., Hallikas, O., Vanharanta, S., Kivioja, T., Björklund, M., Wei, G., Yan, J., Niittymäki, I., Mecklin, J-P., Järvinen, H., Ristimäki, A., Di-Bernardo, M., East, P., Carvajal-Carmona, L., Houlston, R. S., Tomlinson, I., Palin, K., Ukkonen, E. & 3 others, Karhu, A., Taipale, J. & Aaltonen, L. A., 2009, In : Nature Genetics. 41, 8, p. 885-890 6 p.

Research output: Contribution to journalArticleScientificpeer-review

The expression of AIP-related molecules in elucidation of cellular pathways in pituitary adenomas

Heliövaara, E., Raitila, A., Launonen, V., Paetau, A., Arola, J., Lehtonen, H., Sane, T., Weil, R. J., Vierimaa, O., Salmela, P., Tuppurainen, K., Mäkinen, M., Aaltonen, L. A. & Karhu, A., 2009, In : The American Journal of Pathology. 175, 6, p. 2501-2507 7 p.

Research output: Contribution to journalArticleScientificpeer-review

2010

A large-scale meta-analysis to refine colorectal cancer risk estimates associated with MUTYH variants

Theodoratou, E., Campbell, H., Tenesa, A., Houlston, R., Webb, E., Lubbe, S., Broderick, P., Gallinger, S., Croitoru, E. M., Jenkins, M. A., Win, A. K., Cleary, S. P., Koessler, T., Pharoah, P. D., Kuery, S., Bezieau, S., Buecher, B., Ellis, N. A., Peterlongo, P., Offit, K. & 12 others, Aaltonen, L. A., Enholm, S., Lindblom, A., Zhou, X-L., Tomlinson, I. P., Moreno, V., Blanco, I., Capella, G., Barnetson, R., Porteous, M. E., Dunlop, M. G. & Farrington, S. M., 2010, In : British Journal of Cancer. 103, 12, p. 1875-1884 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Allelic Variation at the 8q23.3 Colorectal Cancer Risk Locus Functions as a Cis-Acting Regulator of EIF3H

Pittman, A. M., Naranjo, S., Jalava, S. E., Twiss, P., Ma, Y., Olver, B., Lloyd, A., Vijayakrishnan, J., Qureshi, M., Broderick, P., van Wezel, T., Morreau, H., Tuupanen, S., Aaltonen, L. A., Eva Alonso, M., Manzanares, M., Gavilan, A., Visakorpi, T., Luis Gomez-Skarmeta, J. & Houlston, R. S., 2010, In : PLoS Genetics. 6, 9 , p. e1001126 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
File

Clinical Characteristics and Therapeutic Responses in Patients with Germ-Line AIP Mutations and Pituitary Adenomas: An International Collaborative Study

Daly, A. F., Tichomirowa, M. A., Petrossians, P., Heliövaara, E., Jaffrain-Rea, M-L., Barlier, A., Naves, L. A., Ebeling, T., Karhu, A., Raappana, A., Cazabat, L., De Menis, E., Fajardo Montanana, C., Raverot, G., Weil, R. J., Sane, T., Maiter, D., Neggers, S., Yaneva, M., Tabarin, A. & 43 others, Verrua, E., Eloranta, E., Murat, A., Vierimaa, O., Salmela, P. I., Emy, P., Toledo, R. A., Isabel Sabate, M., Villa, C., Popelier, M., Salvatori, R., Jennings, J., Ferrandez Longas, A., Labarta Aizpun, J. I., Georgitsi, M., Paschke, R., Ronchi, C., Välimäki, M., Saloranta, C., De Herder, W., Cozzi, R., Guitelman, M., Magri, F., Lagonigro, M. S., Halaby, G., Corman, V., Hagelstein, M-T., Vanbellinghen, J-F., Barra, G. B., Gimenez-Roqueplo, A-P., Cameron, F. J., Borson-Chazot, F., Holdaway, I., Toledo, S. P. A., Stalla, G. K., Spada, A., Zacharieva, S., Bertherat, J., Brue, T., Bours, V., Chanson, P., Aaltonen, L. A. & Beckers, A., 2010, In : Journal of Clinical Endocrinology and Metabolism. 95, 11, p. E373-E383 11 p.

Research output: Contribution to journalArticleScientificpeer-review

COGENT (COlorectal cancer GENeTics): an international consortium to study the role of polymorphic variation on the risk of colorectal cancer

Tomlinson, I. P. M., Dunlop, M., Campbell, H., Zanke, B., Gallinger, S., Hudson, T., Koessler, T., Pharoah, P. D., Niittymäki, I., Tuupanen, S., Aaltonen, L. A., Hemminki, K., Lindblom, A., Forsti, A., Sieber, O., Lipton, L., van Wezel, T., Morreau, H., Wijnen, J. T., Devilee, P. & 31 others, Matsuda, K., Nakamura, Y., Castellvi-Bel, S., Ruiz-Ponte, C., Castells, A., Carracedo, A., Ho, J. W. C., Sham, P., Hofstra, R. M. W., Vodicka, P., Brenner, H., Hampe, J., Schafmayer, C., Tepel, J., Schreiber, S., Volzke, H., Lerch, M. M., Schmidt, C. A., Buch, S., Moreno, V., Villanueva, C. M., Peterlongo, P., Radice, P., Echeverry, M. M., Velez, A., Carvajal-Carmona, L., Scott, R., Penegar, S., Broderick, P., Tenesa, A. & Houlston, R. S., 2010, In : British Journal of Cancer. 102, 2, p. 447-454 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Expression Profiling in Progressive Stages of Fumarate-Hydratase Deficiency: The Contribution of Metabolic Changes to Tumorigenesis

Ashrafian, H., O'Flaherty, L., Adam, J., Steeples, V., Chung, Y-L., East, P., Vanharanta, S., Lehtonen, H., Nye, E., Hatipoglu, E., Miranda, M., Howarth, K., Shukla, D., Troy, H., Griffiths, J., Spencer-Dene, B., Yusuf, M., Volpi, E., Maxwell, P. H., Stamp, G. & 11 others, Poulsom, R., Pugh, C. W., Costa, B., Bardella, C., Di Renzo, M. F., Kotlikoff, M. I., Launonen, V., Aaltonen, L., El-Bahrawy, M., Tomlinson, I. & Pollard, P. J., 2010, In : Cancer Research. 70, 22, p. 9153-9165 13 p.

Research output: Contribution to journalArticleScientificpeer-review

Low-Penetrance Susceptibility Variants in Familial Colorectal Cancer

Niittymaki, I., Kaasinen, E., Tuupanen, S., Karhu, A., Jarvinen, H., Mecklin, J-P., Tomlinson, I. P. M., Di Bernardo, M. C., Houlston, R. S. & Aaltonen, L. A., 2010, In : Cancer Epidemiology, Biomarkers & Prevention. 19, 6, p. 1478-1483 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Meta-analysis of three genome-wide association studies identifies susceptibility loci for colorectal cancer at 1q41, 3q26.2, 12q13.13 and 20q13.33

Houlston, R. S., Cheadle, J., Dobbins, S. E., Tenesa, A., Jones, A. M., Howarth, K., Spain, S. L., Broderick, P., Domingo, E., Farrington, S., Prendergast, J. G. D., Pittman, A. M., Theodoratou, E., Smith, C. G., Olver, B., Walther, A., Barnetson, R. A., Churchman, M., Jaeger, E. E. M., Penegar, S. & 26 others, Barclay, E., Martin, L., Gorman, M., Mager, R., Johnstone, E., Midgley, R., Niittymäki, I., Tuupanen, S., Colley, J., Idziaszczyk, S., Thomas, H. J. W., Lucassen, A. M., Evans, D. G. R., Maher, E. R., Maughan, T., Dimas, A., Dermitzakis, E., Cazier, J-B., Aaltonen, L. A., Pharoah, P., Kerr, D. J., Carvajal-Carmona, L. G., Campbell, H., Dunlop, M. G., Tomlinson, I. P. M. & CORGI Consortium, COGENT Consortium, COINB Collaborative Grp, COIN Collaborative Grp, 2010, In : Nature Genetics. 42, 11, p. 973-U89 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Mice with Inactivation of Aryl Hydrocarbon Receptor-Interacting Protein (Aip) Display Complete Penetrance of Pituitary Adenomas with Aberrant ARNT Expression

Raitila, A., Lehtonen, H. J., Arola, J., Heliovaara, E., Ahlsten, M., Georgitsi, M., Jalanko, A., Paetau, A., Aaltonen, L. A. & Karhu, A., 2010, In : The American Journal of Pathology. 177, 4, p. 1969-1976 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Mixed lineage kinase 3 gene mutations in mismatch repair deficient gastrointestinal tumours

Velho, S., Oliveira, C., Paredes, J., Sousa, S., Leite, M., Matos, P., Milanezi, F., Ribeiro, A. S., Mendes, N., Licastro, D., Karhu, A., Oliveira, M. J., Ligtenberg, M., Hamelin, R., Carneiro, F., Lindblom, A., Peltomaki, P., Castedo, S., Schwartz, S., Jordan, P. & 6 others, Aaltonen, L. A., Hofstra, R. M. W., Suriano, G., Stupka, E., Fialho, A. M. & Seruca, R., 2010, In : Human Molecular Genetics. 19, 4, p. 697-706 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Mutations in the Circadian Gene CLOCK in Colorectal Cancer

Alhopuro, P., Björklund, M., Sammalkorpi, H. P., Turunen, M., Tuupanen, S. J., Bistrom, M., Niittymäki, I., Lehtonen, H., Kivioja, T., Launonen, V., Saharinen, J. M. N., Nousiainen, K. J., Hautaniemi, S., Nuorva, K., Mecklin, J-P., Järvinen, H., Orntoft, T., Arango, D., Lehtonen, R. J., Karhu, A. I. & 2 others, Taipale, J. & Aaltonen, L. A., 2010, In : Molecular Cancer Research. 8, 7, p. 952-960 9 p.

Research output: Contribution to journalArticleScientificpeer-review

No evidence for a genetic modifier for renal cell cancer risk in HLRCC syndrome

Vahteristo, P., Koski, T. A., Naatsaari, L., Kiuru, M., Karhu, A., Herva, R., Sallinen, S-L., Vierimaa, O., Bjorck, E., Richard, S., Gardie, B., Bessis, D., Van Glabeke, E., Blanco, I., Houlston, R., Senter, L., Hietala, M., Aittomaki, K., Aaltonen, L. A., Launonen, V. & 1 others, Lehtonen, R., 2010, In : Familial Cancer. 9, p. 245-251 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Recessively inherited right atrial isomerism caused by mutations in growth/differentiation factor 1 (GDF1)

Kaasinen, E., Aittomaki, K., Eronen, M., Vahteristo, P., Karhu, A., Mecklin, J-P., Kajantie, E., Aaltonen, L. A. & Lehtonen, R., 2010, In : Human Molecular Genetics. 19, p. 2747-2753 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Somatic mutations and germline sequence variants in patients with familial colorectal cancer

Gylfe, A. E., Sirkiä, J., Ahlsten, M., Järvinen, H., Mecklin, J-P., Karhu, A. & Aaltonen, L. A., 2010, In : International Journal of Cancer. 127, 12, p. 2974-2980 7 p.

Research output: Contribution to journalArticleScientificpeer-review

2011

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, V. M., Harris, A. L., Chandra, A., Lehtonen, H. J., Launonen, V., Aaltonen, L. A., Pugh, C. W., Mihai, R. & 6 others, Trudgian, D., Kessler, B., Baynes, J. W., Ratcliffe, P. J., Tomlinson, I. P. & Pollard, P. J., 2011, In : Journal of Pathology. 225, 1, p. 4-11 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Analysis of KLHDC8B in familial nodular lymphocyte predominant Hodgkin lymphoma

Saarinen, S., Vahteristo, P., Launonen, V., Franssila, K., Kivirikko, S., Lehtonen, R., Bain, B. J., Bauduer, F., Unal, A., Aaltonen, L. A. & Aittomaki, K., 2011, In : British Journal of Haematology. 154, 3, p. 413-415 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Äyräpään palkinto 2011 Juha Kerelle

Puolakkainen, P., Aaltonen, L. & Alitalo, K., 2011, In : Duodecim. 127, 1, p. 94-95 2 p.

Research output: Contribution to journalArticleProfessional

Downregulation of the hedgehog receptor PTCH1 in colorectal serrated adenocarcinomas is not caused by PTCH1 mutations

Stefanius, K., Kantola, T., Tuomisto, A., Vahteristo, P., Karttunen, T. J., Aaltonen, L. A., Makinen, M. J. & Karhu, A., 2011, In : Virchows Archiv. 458, 2, p. 213-219 7 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Saarinen, S., Aavikko, M., Aittomaki, K., Launonen, V., Lehtonen, R., Franssila, K., Lehtonen, H. J., Kaasinen, E., Broderick, P., Tarkkanen, J., Bain, B. J., Bauduer, F., Unal, A., Swerdlow, A. J., Cooke, R., Makinen, M. J., Houlston, R., Vahteristo, P. & Aaltonen, L. A., 2011, In : Blood. 118, 3, p. 493-498 6 p.

Research output: Contribution to journalArticleScientificpeer-review

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

Niittymaki, I., Gylfe, A., Laine, L., Laakso, M., Lehtonen, H. J., Kondelin, J., Tolvanen, J., Nousiainen, K., Pouwels, J., Jarvinen, H., Nuorva, K., Mecklin, J-P., Makinen, M., Ristimaki, A., Orntoft, T. F., Hautaniemi, S., Karhu, A., Kallio, M. J. & Aaltonen, L. A., 2011, In : Carcinogenesis. 32, 3, p. 305-311 7 p.

Research output: Contribution to journalArticleScientificpeer-review

KSHV-Initiated Notch Activation Leads to Membrane-Type-1MatrixMetalloproteinase-Dependent Lymphatic Endothelial-to-Mesenchymal Transition

Cheng, F., Pekkonen, P. M., Laurinavicius, S., Sugiyama, N., Henderson, S., Günther, T., Rantanen, V., Kaivanto, E., Aavikko, M., Sarek, G., Hautaniemi, S., Biberfeld, P., Aaltonen, L. A., Grundhoff, A., Boshoff, C., Alitalo, K., Lehti, K. & Ojala, P., 2011, In : Cell Host & Microbe. 10, 6, p. 577-590 14 p.

Research output: Contribution to journalArticleScientificpeer-review

KSHV-Initiated Notch Activation Leads to Membrane-Type-1 Matrix Metalloproteinase-Dependent Lymphatic Endothelial-to-Mesenchymal Transition

Cheng, F., Pekkonen, P., Laurinavicius, S., Sugiyama, N., Henderson, S., Guenther, T., Rantanen, V., Kaivanto, E., Aavikko, M., Sarek, G., Hautaniemi, S., Biberfeld, P., Aaltonen, L., Grundhoff, A., Boshoff, C., Alitalo, K., Lehti, K. & Ojala, P. M., 2011, In : Cell Host & Microbe. 10, 6, p. 577-590 14 p.

Research output: Contribution to journalArticleScientificpeer-review

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, H. J., Gentile, M., Yan, J., Enge, M., Taipale, M., Aavikko, M., Katainen, R., Virolainen, E., Böhling, T., Koski, T. A., Launonen, V., Sjöberg, J., Taipale, J., Vahteristo, P. & Aaltonen, L. A., 2011, In : Science Progress. 334, 6053, p. 252-255 4 p.

Research output: Contribution to journalArticleScientificpeer-review

MED12 exon 2 mutations are common in uterine leiomyomas from South African patients

Mäkinen, N., Heinonen, H-R., Moore, S., Tomlinson, I. P. M., van der Spuy, Z. M. & Aaltonen, L. A., Dec 2011, In : Oncotarget. 2, 12, p. 966-969 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Multiple Common Susceptibility Variants near BMP Pathway Loci GREM1, BMP4, and BMP2 Explain Part of the Missing Heritability of Colorectal Cancer

Tomlinson, I. P. M., Carvajal-Carmona, L. G., Dobbins, S. E., Tenesa, A., Jones, A. M., Howarth, K., Palles, C., Broderick, P., Jaeger, E. E. M., Farrington, S., Lewis, A., Prendergast, J. G. D., Pittman, A. M., Theodoratou, E., Olver, B., Walker, M., Penegar, S., Barclay, E., Whiffin, N., Martin, L. & 31 others, Ballereau, S., Lloyd, A., Gorman, M., Lubbe, S., Howie, B., Marchini, J., Ruiz-Ponte, C., Fernandez-Rozadilla, C., Castells, A., Carracedo, A., Castellvi-Bel, S., Duggan, D., Conti, D., Cazier, J-B., Campbell, H., Sieber, O., Lipton, L., Gibbs, P., Martin, N. G., Montgomery, G. W., Young, J., Baird, P. N., Gallinger, S., Newcomb, P., Hopper, J., Jenkins, M. A., Aaltonen, L. A., Kerr, D. J., Cheadle, J., Pharoah, P. & CORGI Collaborators, COGENT Consortium, EPICOLON Consortium, 2011, In : PLoS Genetics. 7, 6, p. e1002105 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Mutations in BRIP1 confer high risk of ovarian cancer

Rafnar, T., Gudbjartsson, D. F., Sulem, P., Jonasdottir, A., Sigurdsson, A., Jonasdottir, A., Besenbacher, S., Lundin, P., Stacey, S. N., Gudmundsson, J., Magnusson, O. T., le Roux, L., Orlygsdottir, G., Helgadottir, H. T., Johannsdottir, H., Gylfason, A., Tryggvadottir, L., Jonasson, J. G., de Juan, A., Ortega, E. & 25 others, Ramon-Cajal, J. M., Garcia-Prats, M. D., Mayordomo, C., Panadero, A., Rivera, F., Aben, K. K. H., van Altena, A. M., Massuger, L. F. A. G., Aavikko, M., Kujala, P. M., Staff, S., Aaltonen, L. A., Olafsdottir, K., Bjornsson, J., Kong, A., Salvarsdottir, A., Saemundsson, H., Olafsson, K., Benediktsdottir, K. R., Gulcher, J., Masson, G., Kiemeney, L. A., Mayordomo, J. I., Thorsteinsdottir, U. & Stefansson, K., 2011, In : Nature Genetics. 43, 11, p. 1104-U91 6 p.

Research output: Contribution to journalArticleScientificpeer-review

No evidence of RET germline mutations in familial pituitary adenoma

Heliovaara, E., Tuupanen, S., Ahlsten, M., Hodgson, S., de Menis, E., Kuismin, O., Izatt, L., Gardner, R. J. M., Gundogdu, S., Lucassen, A., Arola, J., Tuomisto, A., Makinen, M., Karhu, A. & Aaltonen, L. A., 2011, In : Journal of Molecular Endocrinology. 46, 1, p. 1-8 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Systematic search for enhancer elements and somatic allelic imbalance at seven low-penetrance colorectal cancer predisposition loci

Niittymäki, I., Tuupanen, S., Li, Y., Järvinen, H., Mecklin, J-P., Tomlinson, I. P. M., Houlston, R. S., Karhu, A. & Aaltonen, L. A., 2011, In : BMC Medical Genetics. 12, 6 p., 23.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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The MDM2 Promoter SNP285C/309G Haplotype Diminishes Sp1 Transcription Factor Binding and Reduces Risk for Breast and Ovarian Cancer in Caucasians

Knappskog, S., Bjornslett, M., Myklebust, L. M., Huijts, P. E. A., Vreeswijk, M. P., Edvardsen, H., Guo, Y., Zhang, X., Yang, M., Ylisaukko-oja, S. K., Alhopuro, P., Arola, J., Tollenaar, R. A. E. M., van Asperen, C. J., Seynaeve, C., Staalesen, V., Chrisanthar, R., Lokkevik, E., Salvesen, H. B., Evans, D. G. & 13 others, Newman, W. G., Lin, D., Aaltonen, L. A., Borresen-Dale, A-L., Tell, G. S., Stoltenberg, C., Romundstad, P., Hveem, K., Lillehaug, J. R., Vatten, L., Devilee, P., Dorum, A. & Lonning, P. E., 2011, In : Cancer Cell. 19, 2, p. 273-282 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Variants in the Netrin-1 Receptor UNC5C Prevent Apoptosis and Increase Risk of Familial Colorectal Cancer

Coissieux, M-M., Tomsic, J., Castets, M., Hampel, H., Tuupanen, S., Andrieu, N., Comeras, I., Drouet, Y., Lasset, C., Liyanarachchi, S., Mazelin, L., Puisieux, A., Saurin, J-C., Scoazec, J-Y., Wang, Q., Aaltonen, L., Tanner, S. M., de la Chapelle, A., Bernet, A. & Mehlen, P., 2011, In : Gastroenterology. 141, 6, p. 2039-2046 8 p.

Research output: Contribution to journalArticleScientificpeer-review

2012

A Finnish founder mutation in RAD51D: analysis in breast, ovarian, prostate, and colorectal cancer

Pelttari, L. M., Kiiski, J., Nurminen, R., Kallioniemi, A., Schleutker, J., Gylfe, A., Aaltonen, L. A., Leminen, A., Heikkilä, P., Blomqvist, C., Butzow, R., Aittomäki, K. & Nevanlinna, H., 2012, In : Journal of Medical Genetics. 49, 7, p. 429-432 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer

Saarinen, S., Vahteristo, P., Lehtonen, R., Aittomäki, K., Launonen, V., Kiviluoto, T. & Aaltonen, L. A., Sep 2012, In : Familial Cancer. 11, 3, p. 525-528 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Brush border Myosin Ia has tumor suppressor activity in the intestine

Mazzolini, R., Dopeso, H., Mateo-Lozano, S., Chang, W., Rodrigues, P., Bazzocco, S., Alazzouzi, H., Landolfi, S., Hernandez-Losa, J., Andretta, E., Alhopuro, P., Espin, E., Armengol, M., Tabernero, J., Ramon y Cajal, S., Kloor, M., Gebert, J., Mariadason, J. M., Schwartz, S., Aaltonen, L. A. & 2 others, Mooseker, M. S. & Arango, D., 31 Jan 2012, In : Proceedings of the National Academy of Sciences of the United States of America. 109, 5, p. 1530-1535 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Candidate driver genes in microsatellite-unstable colorectal cancer

Alhopuro, P. P., Sammalkorpi, H. P., Niittymäki, I., Biström, M., Raitila, A., Saharinen, J. M. N., Nousiainen, K. J., Lehtonen, H., Heliövaara, E., Puhakka, J., Tuupanen, S., Sousa, S., Seruca, R., Ferreira, A. M., Hofstra, R. M. W., Mecklin, J-P., Järvinen, H., Ristimäki, A., Orntoft, T. F., Hautaniemi, S. & 3 others, Arango, D., Karhu, A. I. & Aaltonen, L. A., 2012, In : International Journal of Cancer. 130, 7, p. 1558–1566 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Characterization of the colorectal cancer-associated enhancer MYC-335 at 8q24: the role of rs67491583

Tuupanen, S., Yan, J., Turunen, M., Gylfe, A. E., Kaasinen, E., Li, L., Eng, C., Culver, D. A., Kalady, M. F., Pennison, M. J., Pasche, B., Manne, U., de la Chapelle, A., Hampel, H., Henderson, B. E., Le Marchand, L., Hautaniemi, S., Askhtorab, H., Smoot, D., Sandler, R. S. & 6 others, Keku, T., Kupfer, S. S., Ellis, N. A., Haiman, C. A., Taipale, J. & Aaltonen, L. A., 2012, In : Cancer Genetics. 205, 1-2, p. 25-33 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Common variation near CDKN1A, POLD3 and SHROOM2 influences colorectal cancer risk

Dunlop, M. G., Dobbins, S. E., Farrington, S. M., Jones, A. M., Palles, C., Whiffin, N., Tenesa, A., Spain, S., Broderick, P., Ooi, L-Y., Domingo, E., Smillie, C., Henrion, M., Frampton, M., Martin, L., Grimes, G., Gorman, M., Semple, C., Ma, Y. P., Barclay, E. & 31 others, Prendergast, J., Cazier, J-B., Olver, B., Penegar, S., Lubbe, S., Chander, I., Carvajal-Carmona, L. G., Ballereau, S., Lloyd, A., Vijayakrishnan, J., Zgaga, L., Rudan, I., Theodoratou, E., Starr, J. M., Deary, I., Kirac, I., Kovacevic, D., Aaltonen, L. A., Renkonen-Sinisalo, L., Mecklin, J-P., Matsuda, K., Nakamura, Y., Okada, Y., Gallinger, S., Duggan, D. J., Conti, D., Newcomb, P., Hopper, J., Jenkins, M. A., Schumacher, F. & Swedish Low-Risk Colorectal Canc, Coin Collaborative Grp, Colorectal Tumour Gene Identificat, 2012, In : Nature Genetics. 44, 7, p. 770-U197 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Identification of Lynch Syndrome Among Patients With Colorectal Cancer

EPICOLON Consortium, 17 Oct 2012, In : JAMA : The Journal of the American Medical Association. 308, 15, p. 1555-1565 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Loss of SUFU Function in Familial Multiple Meningioma

Aavikko, M., Li, S-P., Saarinen, S., Alhopuro, P., Kaasinen, E., Morgunova, E., Li, Y., Vesanen, K., Smith, M. J., Evans, D. G. R., Pöyhönen, M., Kiuru, A., Auvinen, A., Aaltonen, L. A., Taipale, J. & Vahteristo, P., 7 Sep 2012, In : American Journal of Human Genetics. 91, 3, p. 520-526 7 p.

Research output: Contribution to journalArticleScientificpeer-review

MED12 exon 2 mutations in common and histopathological variants of uterine leiomyoma and leiomyosarcoma

Makinen, N., Arola, J., Vahteristo, P., Lehtonen, H. J., Heinonen, H., Butzow, R. & Aaltonen, L. A., Oct 2012, In : Histopathology. 61, p. 101-101 1 p.

Research output: Contribution to journalMeeting AbstractResearchpeer-review

Mice Lacking a Myc Enhancer That Includes Human SNP rs6983267 Are Resistant to Intestinal Tumors

Sur, I. K., Hallikas, O., Vähärautio, A. V., Yan, J., Turunen, M., Enge, M., Taipale, M., Karhu, A., Aaltonen, L. A. & Taipale, J., 7 Dec 2012, In : Science. 338, 6112, p. 1360-1363 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Refinement of the associations between risk of colorectal cancer and polymorphisms on chromosomes 1q41 and 12q13.13

Spain, S. L., Carvajal-Carmona, L. G., Howarth, K. M., Jones, A. M., Su, Z., Cazier, J-B., Williams, J., Aaltonen, L. A., Pharoah, P., Kerr, D. J., Cheadle, J., Li, L., Casey, G., Vodicka, P., Sieber, O., Lipton, L., Gibbs, P., Martin, N. G., Montgomery, G. W., Young, J. & 11 others, Baird, P. N., Morreau, H., van Wezel, T., Ruiz-Ponte, C., Fernandez-Rozadilla, C., Carracedo, A., Castells, A., Castellvi-Bel, S., Dunlop, M., Houlston, R. S. & Tomlinson, I. P. M., 15 Feb 2012, In : Human Molecular Genetics. 21, 4, p. 934-946 13 p.

Research output: Contribution to journalArticleScientificpeer-review