Photo of Lauri Aaltonen

Lauri Aaltonen, Professor

  • PL 63 (Haartmaninkatu 8)

    00014

    Finland

1992 …2020

Research output per year

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Publications

2020

Modifiable pathways for colorectal cancer: a mendelian randomisation analysis

Cornish, A. J., Law, P. J., Timofeeva, M., Palin, K., Farrington, S. M., Palles, C., Jenkins, M. A., Casey, G., Brenner, H., Chang-Claude, J., Hoffmeister, M., Kirac, I., Maughan, T., Brezina, S., Gsur, A., Cheadle, J. P., Aaltonen, L. A., Tomlinson, I., Dunlop, M. G. & Houlston, R. S., Jan 2020, In : The Lancet gastroenterology & hepatology. 5, 1, p. 55-62 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Mutational processes of distinct POLE exonuclease domain mutants drive an enrichment of a specific TP53 mutation in colorectal cancer

Fang, H., Barbour, J. A., Poulos, R. C., Katainen, R., Aaltonen, L. A. & Wong, J. W. H., 3 Feb 2020, In : PLoS Genetics. 16, 2, 20 p., e1008572.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2019

Association analyses identify 31 new risk loci for colorectal cancer susceptibility

PRACTICAl Consortium, Law, P. J., Timofeeva, M., Fernandez-Rozadilla, C., Palin, K., Hänninen, U. A., Cajuso, T., Tanskanen, T., Kondelin, J., Kaasinen, E., Sarin, A-P., Eriksson, J. G., Jousilahti, P., Ripatti, S., Palotie, A., Renkonen-Sinisalo, L., Lepistö, A., Aaltonen, L. A., Rissanen, H., Salomaa, V. & 3 others, Böhm, J., Mecklin, J-P. & Pukkala, E., 14 May 2019, In : Nature Communications. 10, 15 p., 2154.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Biallelic loss-of-function P4HTM gene variants cause hypotonia, hypoventilation, intellectual disability, dysautonomia, epilepsy, and eye abnormalities (HIDEA syndrome)

Rahikkala, E., Myllykoski, M., Hinttala, R., Vieira, P., Nayebzadeh, N., Weiss, S., Plomp, A. S., Bittner, R. E., Kurki, M. I., Kuismin, O., Lewis, A. M., Väisänen, M-L., Kokkonen, H., Westermann, J., Bernert, G., Tuominen, H., Palotie, A., Aaltonen, L., Yang, Y., Potocki, L. & 6 others, Moilanen, J., van Koningsbruggen, S., Wang, X., Schmidt, W. M., Koivunen, P. & Uusimaa, J., Oct 2019, In : Genetics In medicine. 21, 10, p. 2355-2363 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Candidate Predisposition Variants in Kaposi Sarcoma as Detected by Whole-Genome Sequencing

Rinne, S. J., Sipilä, L. J., Sulo, P., Jouanguy, E., Beziat, V., Abel, L., Casanova, J-L., Parvaneh, N., Balighi, K., Guttman-Yassky, E., Sarid, R., Aaltonen, L. A. & Aavikko, M., Oct 2019, In : Open Forum Infectious Diseases. 6, 10, 5 p., 337.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Candidate susceptibility variants in angioimmunoblastic T-cell lymphoma

Donner, I., Katainen, R., Kaasinen, E., Aavikko, M., Sipilä, L. J., Pukkala, E. & Aaltonen, L. A., Jan 2019, In : Familial Cancer. 18, 1, p. 113-119 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Exome and immune cell score analyses reveal great variation within synchronous primary colorectal cancers

Hanninen, U. A., Wirta, E-V., Katainen, R., Tanskanen, T., Hamberg, J., Taipale, M., Böhm, J., Renkonen-Sinisalo, L., Lepistö, A., Forsström, L. M., Pitkänen, E., Palin, K., Seppälä, T. T., Mäkinen, N., Mecklin, J-P. & Aaltonen, L. A., 30 Apr 2019, In : British Journal of Cancer. 120, 9, p. 922-930 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Genetic and Epigenetic Characterization of Growth Hormone-Secreting Pituitary Tumors

Välimäki, N., Schalin-Jäntti, C., Karppinen, A., Paetau, A., Kivipelto, L., Aaltonen, L. A. & Karhu, A., Dec 2019, In : Molecular Cancer Research. 17, 12, p. 2432-2443 12 p.

Research output: Contribution to journalArticleScientificpeer-review

Genetic architecture of human plasma lipidome and its link to cardiovascular disease

FinnGen Project, Tabassum, R., Rämö, J. T., Ripatti, P., Koskela, J. T., Kurki, M., Karjalainen, J., Palta, P., Hassan, S., Nunez-Fontarnau, J., Kiiskinen, T. T. J., Söderlund, S., Matikainen, N., Laivuori, H., Havulinna, A. S., Pirinen, M., Jalanko, A., Kaprio, J., Donner, K., Kaunisto, M. & 70 others, Mars, N., Dada, A., Shcherban, A., Ganna, A., Lehisto, A., Kilpeläinen, E., Brein, G., Awaisa, G., Harju, J., Pärn, K., Parolo, P. D. B., Kajanne, R., Lemmelä, S., Sipilä, T. P., Sipilä, T., Lyhs, U., Llorens, V., Niiranen, T., Kristiansson, K., Jiménez, M. G., Perola, M., Hiekkalinna, T., Mattsson, H., Laiho, P., Soini, S., Lehtonen, A., Pulkki, K., Heikkinen, S., Laukkanen, J., Laaksonen, R., Ritari, J., Partanen, J., Hyvärinen, K., Auro, K., Pitkänen, K., Mäkelä, T., Loukola, A., Joensuu, H., Sinisalo, J., Eklund, K., Aaltonen, L., Färkkilä, M., Carpen, O., Kauppi, P., Tienari, P., Ollila, T., Tuomi, T., Meretoja, T., Pitkäranta, A., Turunen, J., Hannula-Jouppi, K., Pikkarainen, S., Seitsonen, S., Koskinen, M., Palomäki, A., Voutilainen, M., Kettunen, J., Pelkonen, M., Julkunen, V., Lehtonen, H., Parkkinen, J., Linden, K., Jussila, A., Laitinen, T., Palin, K., Jauhiainen, M., Daly, M. J., Palotie, A., Taskinen, M-R. & Ripatti, S., 24 Sep 2019, In : Nature Communications. 10, 1, 14 p., 4329.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Impact of constitutional TET2 haploinsufficiency on molecular and clinical phenotype in humans

Kaasinen, E., Kuismin, O., Rajamäki, K., Ristolainen, H., Aavikko, M., Kondelin, J., Saarinen, S., Berta, D. G., Katainen, R., Hirvonen, E. A. M., Karhu, A., Taira, A., Tanskanen, T., Alkodsi, A., Taipale, M., Morgunova, E., Franssila, K., Lehtonen, R., Mäkinen, M., Aittomäki, K. & 15 others, Palotie, A., Kurki, M., Pietiläinen, O., Hilpert, M., Saarentaus, E., Niinimäki, J., Junttila, J., Kaikkonen, K., Vahteristo, P., Skoda, R. C., Seppänen, M. R. J., Eklund, K. K., Taipale, J., Kilpivaara, O. & Aaltonen, L. A., 19 Mar 2019, In : Nature Communications. 10, 17 p., 1252.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Retrotransposon insertions can initiate colorectal cancer and are associated with poor survival

Cajuso, T., Sulo, P., Tanskanen, T., Katainen, R., Taira, A., Hanninen, U. A., Kondelin, J., Forsstrom, L., Valimaki, N., Aavikko, M., Kaasinen, E., Ristimaki, A., Koskensalo, S., Lepisto, A., Renkonen-Sinisalo, L., Seppala, T., Kuopio, T., Bohm, J., Mecklin, J-P., Kilpivaara, O. & 3 others, Pitkanen, E., Palin, K. & Aaltonen, L. A., 6 Sep 2019, In : Nature Communications. 10, 9 p., 4022.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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2018

Comprehensive evaluation of coding region point mutations in microsatellite-unstable colorectal cancer

Kondelin, J., Salokas, K., Saarinen, L., Ovaska, K., Rauanheimo, H., Plaketti, R-M., Hamberg, J., Liu, X., Yadav, L., Gylfe, A. E., Cajuso, T., Hänninen, U. A., Palin, K., Ristolainen, H., Katainen, R., Kaasinen, E., Tanskanen, T., Aavikko, M., Taipale, M., Taipale, J. & 17 others, Renkonen-Sinisalo, L., Lepistö, A., Koskensalo, S., Böhm, J., Mecklin, J-P., Ongen, H., Dermitzakis, E. T., Kilpivaara, O., Vahteristo, P., Turunen, M., Hautaniemi, S., Tuupanen, S., Karhu, A., Välimäki, N., Varjosalo, M., Pitkänen, E. & Aaltonen, L. A., 2018, In : EMBO molecular medicine. 10, 9, 20 p., e8552.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Contribution of allelic imbalance to colorectal cancer

Palin, K., Pitkänen, E., Turunen, M., Sahu, B., Pihlajamaa, P., Kivioja, T., Kaasinen, E., Välimäki, N., Hänninen, U. A., Cajuso, T., Aavikko, M., Tuupanen, S., Kilpivaara, O., van den Berg, L., Kondelin, J., Tanskanen, T., Katainen, R., Grau, M., Rauanheimo, H., Plaketti, R-M. & 20 others, Taira, A., Sulo, P., Hartonen, T., Dave, K., Schmierer, B., Botla, S., Sokolova, M., Vähärautio, A., Gladysz, K., Ongen, H., Dermitzakis, E., Bramsen, J. B., Orntoft, T. F., Andersen, C. L., Ristimäki, A., Lepistö, A., Renkonen-Sinisalo, L., Mecklin, J-P., Taipale, J. & Aaltonen, L. A., 10 Sep 2018, In : Nature Communications. 9, 9 p., 3664.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Open Access
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Exome-wide somatic mutation characterization of small bowel adenocarcinoma

Hänninen, U. A., Katainen, R., Tanskanen, T., Plaketti, R-M., Laine, R., Hamberg, J., Ristimäki, A., Pukkala, E., Taipale, M., Mecklin, J-P., Forsström, L. M., Pitkänen, E., Palin, K., Välimäki, N., Mäkinen, N. & Aaltonen, L. A., Mar 2018, In : PLoS Genetics. 14, 3, 23 p., 1007200.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Genetic predisposition to uterine leiomyoma is determined by loci for genitourinary development and genome stability

Valimaki, N., Kuisma, H., Pasanen, A., Heikinheimo, O., Sjoberg, J., Butzow, R., Sarvilinna, N., Heinonen, H-R., Tolvanen, J., Bramante, S., Tanskanen, T., Auvinen, J., Uimari, O., Alkodsi, A., Lehtonen, R., Kaasinen, E., Palin, K. & Aaltonen, L. A., 18 Sep 2018, In : eLife. 7, 50 p., 37110.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Genome-wide association study and meta-analysis in Northern European populations replicate multiple colorectal cancer risk loci

Tanskanen, T., van den Berg, L., Valimaki, N., Aavikko, M., Ness-Jensen, E., Hveem, K., Wettergren, Y., Lindskog, E. B., Tonisson, N., Metspalu, A., Silander, K., Orlando, G., Law, P. J., Tuupanen, S., Gylfe, A. E., Hanninen, U. A., Cajuso, T., Kondelin, J., Sarin, A-P., Pukkala, E. & 40 others, Jousilahti, P., Salomaa, V., Ripatti, S., Palotie, A., Jarvinen, H., Renkonen-Sinisalo, L., Lepisto, A., Bohm, J., Mecklin, J-P., Al-Tassan, N. A., Palles, C., Martin, L., Barclay, E., Tenesa, A., Farrington, S. M., Timofeeva, M. N., Meyer, B. F., Wakil, S. M., Campbell, H., Smith, C. G., Idziaszczyk, S., Maughan, T. S., Kaplan, R., Kerr, R., Kerr, D., Buchanan, D. D., Win, A. K., Hopper, J., Jenkins, M. A., Newcomb, P. A., Gallinger, S., Conti, D., Schumacher, F. R., Casey, G., Cheadle, J. P., Dunlop, M. G., Tomlinson, I. P., Houlston, R. S., Palin, K. & Aaltonen, L. A., 1 Feb 2018, In : International Journal of Cancer. 142, 3, p. 540-546 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Germline mutations in young non-smoking women with lung adenocarcinoma

Donner, I., Katainen, R., Sipilä, L. J., Aavikko, M., Pukkala, E. & Aaltonen, L. A., Aug 2018, In : Lung Cancer. 122, p. 76-82 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Oncogenic exon 2 mutations in Mediator subunit MED12 disrupt allosteric activation of cyclin C-CDK8/19

Park, M. J., Shen, H., Spaeth, J. M., Tolvanen, J. H., Failor, C., Knudtson, J. F., McLaughlin, J., Halder, S. K., Yang, Q., Bulun, S. E., Al-Hendy, A., Schenken, R. S., Aaltonen, L. A. & Boyer, T. G., 30 Mar 2018, In : Journal of Biological Chemistry. 293, 13, p. 4870-4882 13 p.

Research output: Contribution to journalArticleScientificpeer-review

2017

Candidate susceptibility variants for esophageal squamous cell carcinoma

Donner, I., Katainen, R., Tanskanen, T., Kaasinen, E., Aavikko, M., Ovaska, K., Artama, M., Pukkala, E. & Aaltonen, L. A., Jun 2017, In : Genes, Chromosomes & Cancer. 56, 6, p. 453-459 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Comprehensive Evaluation of Protein Coding Mononucleotide Microsatellites in Microsatellite-Unstable Colorectal Cancer

Kondelin, J., Gylfe, A. E., Lundgren, S., Tanskanen, T., Hamberg, J., Aavikko, M., Palin, K., Ristolainen, H., Katainen, R., Kaasinen, E., Taipale, M., Taipale, J., Renkonen-Sinisalo, L., Jarvinen, H., Bohm, J., Mecklin, J-P., Vahteristo, P., Tuupanen, S., Aaltonen, L. A. & Pitkanen, E., 1 Aug 2017, In : Cancer Research. 77, 15, p. 4078-4088 11 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Open Access
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Germline MSH6 Mutation in a Patient With Two Independent Primary Glioblastomas

Forsstrom, L. M., Sumi, K., Makinen, M. J., Oh, J. E., Herva, R., Kleihues, P., Ohgaki, H. & Aaltonen, L. A., Oct 2017, In : Journal of Neuropathology and Experimental Neurology. 76, 10, p. 848-853 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Global metabolomic profiling of uterine leiomyomas

Heinonen, H-R., Mehine, M., Mäkinen, N., Pasanen, A., Pitkänen, E., Karhu, A., Sarvilinna, N. S., Sjöberg, J., Heikinheimo, O., Bützow, R., Aaltonen, L. A. & Kaasinen, E., 5 Dec 2017, In : British Journal of Cancer. 117, 12, p. 1855-1864 10 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Mendelian randomisation implicates hyperlipidaemia as a risk factor for colorectal cancer

Rodriguez-Broadbent, H., Law, P. J., Sud, A., Palin, K., Tuupanen, S., Gylfe, A., Hanninen, U. A., Cajuso, T., Tanskanen, T., Kondelin, J., Kaasinen, E., Sarin, A-P., Ripatti, S., Eriksson, J. G., Rissanen, H., Knekt, P., Pukkala, E., Jousilahti, P., Salomaa, V., Palotie, A. & 36 others, Renkonen-Sinisalo, L., Lepisto, A., Bohm, J., Mecklin, J-P., Al-Tassan, N. A., Palles, C., Martin, L., Barclay, E., Farrington, S. M., Timofeeva, M. N., Meyer, B. F., Wakil, S. M., Campbell, H., Smith, C. G., Idziaszczyk, S., Maughan, T. S., Kaplan, R., Kerr, R., Kerr, D., Passarelli, M. N., Figueiredo, J. C., Buchanan, D. D., Win, A. K., Hopper, J. L., Jenkins, M. A., Lindor, N. M., Newcomb, P. A., Gallinger, S., Conti, D., Schumacher, F., Casey, G., Aaltonen, L. A., Cheadle, J. P., Tomlinson, I. P., Dunlop, M. G. & Houlston, R. S., 15 Jun 2017, In : International Journal of Cancer. 140, 12, p. 2701-2708 8 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Multiple clinical characteristics separate MED12-mutation-positive and -negative uterine leiomyomas

Heinonen, H-R., Pasanen, A., Heikinheimo, O., Tanskanen, T., Palin, K., Tolvanen, J., Vahteristo, P., Sjoberg, J., Pitkänen, E., Butzow, R., Makinen, N. & Aaltonen, L. A., 21 Apr 2017, In : Scientific Reports. 7, 7 p., 1015.

Research output: Contribution to journalArticleScientificpeer-review

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Multiple components of PKA and TGF-beta pathways are mutated in pseudomyxoma peritonei

Saarinen, L., Nummela, P., Thiel, A., Lehtonen, R., Järvinen, P., Järvinen, H., Aaltonen, L. A., Lepisto, A., Hautaniemi, S. & Ristimaki, A., 20 Apr 2017, In : PLoS One. 12, 4, 16 p., 0174898.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Pro-inflammatory fatty acid profile and colorectal cancer risk: A Mendelian randomisation analysis

May-Wilson, S., Sud, A., Law, P. J., Palin, K., Tuupanen, S., Gylfe, A., Hänninen, U. A., Cajuso, T., Tanskanen, T., Kondelin, J., Kaasinen, E., Sarin, A-P., Eriksson, J. G., Rissanen, H., Knekt, P., Pukkala, E., Jousilahti, P., Salomaa, V., Ripatti, S., Palotie, A. & 34 others, Renkonen-Sinisalo, L., Lepisto, A., Böhm, J., Mecklin, J-P., Al-Tassan, N. A., Palles, C., Farrington, S. M., Timofeeva, M. N., Meyer, B. F., Wakil, S. M., Campbell, H., Smith, C. G., Idziaszczyk, S., Maughan, T. S., Fisher, D., Kerr, R., Kerr, D., Passarelli, M. N., Figueiredo, J. C., Buchanan, D. D., Win, A. K., Hopper, J. L., Jenkins, M. A., Lindor, N. M., Newcomb, P. A., Gallinger, S., Conti, D., Schumacher, F., Casey, G., Aaltonen, L. A., Cheadle, J. P., Tomlinson, I. P., Dunlop, M. G. & Houlston, R. S., Oct 2017, In : European Journal of Cancer. 84, p. 228-238 11 p.

Research output: Contribution to journalArticleScientificpeer-review

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Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera

Hirvonen, E. A. M., Pitkanen, E., Hemminki, K., Aaltonen, L. A. & Kilpivaara, O., 20 Apr 2017, In : Human Genomics. 11, 6 p., 6.

Research output: Contribution to journalArticleScientificpeer-review

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2016
Open Access

MED12 mutations and FH inactivation are mutually exclusive in uterine leiomyomas

Kampjarvi, K., Makinen, N., Mehine, M., Valipakka, S., Uimari, O., Pitkanen, E., Heinonen, H-R., Heikkinen, T., Tolvanen, J., Ahtikoski, A., Frizzell, N., Sarvilinna, N., Sjoberg, J., Butzow, R., Aaltonen, L. A. & Vahteristo, P., 14 Jun 2016, In : British Journal of Cancer. 114, 12, p. 1405-1411 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access

Mendelian randomisation analysis strongly implicates adiposity with risk of developing colorectal cancer

Jarvis, D., Mitchell, J. S., Law, P. J., Palin, K., Tuupanen, S., Gylfe, A., Hanninen, U. A., Cajuso, T., Tanskanen, T., Kondelin, J., Kaasinen, E., Sarin, A-P., Kaprio, J., Eriksson, J. G., Rissanen, H., Knekt, P., Pukkala, E., Jousilahti, P., Salomaa, V., Ripatti, S. & 37 others, Palotie, A., Järvinen, H., Renkonen-Sinisalo, L., Lepistö, A., Bohm, J., Mecklin, J-P., Al-Tassan, N. A., Palles, C., Martin, L., Barclay, E., Farrington, S. M., Timofeeva, M. N., Meyer, B. F., Wakil, S. M., Campbell, H., Smith, C. G., Idziaszczyk, S., Maughan, T. S., Kaplan, R., Kerr, R., Kerr, D., Buchanan, D. D., Win, A. K., Hopper, J. L., Jenkins, M. A., Lindor, N. M., Newcomb, P. A., Gallinger, S., Conti, D., Schumacher, F., Casey, G., Taipale, J., Aaltonen, L. A., Cheadle, J. P., Dunlop, M. G., Tomlinson, I. P. & Houlston, R. S., 12 Jul 2016, In : British Journal of Cancer. 115, 2, p. 266-272 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Open Access
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Variation at 2q35 (PNKD and TMBIM1) influences colorectal cancer risk and identifies a pleiotropic effect with inflammatory bowel disease

Orlando, G., Law, P. J., Palin, K., Tuupanen, S., Gylfe, A., Hanninen, U. A., Cajuso, T., Tanskanen, T., Kondelin, J., Kaasinen, E., Sarin, A-P., Kaprio, J., Eriksson, J. G., Rissanen, H., Knekt, P., Pukkala, E., Jousilahti, P., Salomaa, V., Ripatti, S., Palotie, A. & 37 others, Järvinen, H., Renkonen-Sinisalo, L., Lepisto, A., Bohm, J., Mecklin, J-P., Al-Tassan, N. A., Palles, C., Martin, L., Barclay, E., Tenesa, A., Farrington, S., Timofeeva, M. N., Meyer, B. F., Wakil, S. M., Campbell, H., Smith, C. G., Idziaszczyk, S., Maughan, T. S., Kaplan, R., Kerr, R., Kerr, D., Buchanan, D. D., Win, A. K., Hopper, J., Jenkins, M., Lindor, N. M., Newcomb, P. A., Gallinger, S., Conti, D., Schumacher, F., Casey, G., Taipale, J., Cheadle, J. P., Dunlop, M. G., Tomlinson, I. P., Aaltonen, L. A. & Houlston, R. S., 1 Jun 2016, In : Human Molecular Genetics. 25, 11, p. 2349-2359 11 p.

Research output: Contribution to journalArticleScientificpeer-review

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2015

3 '-UTR poly(T/U) repeat of EWSR1 is altered in microsatellite unstable colorectal cancer with nearly perfect sensitivity

Kondelin, J., Tuupanen, S., Gylfe, A. E., Aavikko, M., Renkonen-Sinisalo, L., Järvinen, H., Bohm, J., Mecklin, J-P., Andersen, C. L., Vahteristo, P., Pitkanen, E. & Aaltonen, L. A., Sep 2015, In : Familial Cancer. 14, 3, p. 449-453 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Clonally related uterine leiomyomas are common and display branched tumor evolution

Mehine, M., Heinonen, H-R., Sarvilinna, N., Pitkanen, E., Makinen, N., Katainen, R., Tuupanen, S., Butzow, R., Sjoberg, J. & Aaltonen, L. A., 1 Aug 2015, In : Human Molecular Genetics. 24, 15, p. 4407-4416 10 p.

Research output: Contribution to journalArticleScientificpeer-review

CTCF/cohesin-binding sites are frequently mutated in cancer

Katainen, R., Dave, K., Pitkänen, E., Palin, K., Kivioja, T., Valimaki, N., Gylfe, A. E., Ristolainen, H., Hanninen, U. A., Cajuso, T., Kondelin, J., Tanskanen, T., Mecklin, J-P., Järvinen, H., Renkonen-Sinisalo, L., Lepisto, A., Kaasinen, E., Kilpivaara, O., Tuupanen, S., Enge, M. & 2 others, Taipale, J. & Aaltonen, L. A., 1 Jul 2015, In : Nature Genetics. 47, 7, p. 818-+

Research output: Contribution to journalArticleScientificpeer-review

Exome sequencing reveals three novel candidate predisposition genes for diffuse gastric cancer

Donner, I., Kiviluoto, T., Ristimaki, A., Aaltonen, L. A. & Vahteristo, P., Jun 2015, In : Familial Cancer. 14, 2, p. 241-246 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Identification of homozygous deletion in ACAN and other candidate variants in familial classical Hodgkin lymphoma by exome sequencing

Ristolainen, H., Kilpivaara, O., Kamper, P., Taskinen, M., Saarinen, S., Leppa, S., d'Amore, F. & Aaltonen, L. A., Aug 2015, In : British Journal of Haematology. 170, 3, p. 428-431 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Systematic search for rare variants in Finnish early-onset colorectal cancer patients

Tanskanen, T., Gylfe, A. E., Katainen, R., Taipale, M., Renkonen-Sinisalo, L., Järvinen, H., Mecklin, J-P., Bohm, J., Kilpivaara, O., Pitkanen, E., Palin, K., Vahteristo, P., Tuupanen, S. & Aaltonen, L. A., 2015, In : Cancer Genetics. 208, 1-2, p. 35-U100 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Whole-Genome Sequencing Identifies STAT4 as a Putative Susceptibility Gene in Classic Kaposi Sarcoma

Aavikko, M., Kaasinen, E., Nieminen, J. K., Byun, M., Donner, I., Mancuso, R., Ferrante, P., Clerici, M., Brambilla, L., Tourlaki, A., Sarid, R., Guttman-Yassky, E., Taipale, M., Morgunova, E., Pekkonen, P., Ojala, P. M., Pukkala, E., Casanova, J-L., Vaarala, O., Vahteristo, P. & 1 others, Aaltonen, L. A., 1 Jun 2015, In : Journal of Infectious Diseases. 211, 11, p. 1842-1851 10 p.

Research output: Contribution to journalArticleScientificpeer-review

2014

Clinical characterization, genetic mapping and whole- genome sequence analysis of a novel autosomal recessive intellectual disability syndrome

Kaasinen, E., Rahikkala, E., Koivunen, P., Miettinen, S., Wamelink, M. M. C., Aavikko, M., Palin, K., Myllyharju, J., Moilanen, J. S., Pajunen, L., Karhu, A. & Aaltonen, L. A., Oct 2014, In : European Journal of Medical Genetics. 57, 10, p. 543-551 9 p.

Research output: Contribution to journalArticleScientificpeer-review

Exomic landscape of MED12 mutation-negative and -positive uterine leiomyomas

Mäkinen, N., Vahteristo, P., Butzow, R., Sjoberg, J. & Aaltonen, L. A., 1 Feb 2014, In : International Journal of Cancer. 134, 4, p. 1008-1012 5 p.

Research output: Contribution to journalArticleScientificpeer-review

Frequent L1 retrotranspositions originating from TTC28 in colorectal cancer

Pitkanen, E., Cajuso Pons, T., Katainen, R., Kaasinen, E., Valimaki, N., Palin, K., Taipale, J., Aaltonen, L. A. & Kilpivaara, O., 2014, In : Oncotarget. 5, 3, p. 853-859 7 p.

Research output: Contribution to journalArticleScientificpeer-review

Genomics of uterine leiomyomas: insights from high-throughput sequencing

Mehine, M., Makinen, N., Heinonen, H-R., Aaltonen, L. A. & Vahteristo, P., Sep 2014, In : Fertility and Sterility : official journal of the American Fertility Society . 102, 3, p. 621-629 9 p.

Research output: Contribution to journalReview ArticleScientificpeer-review

High Frequency of RPL22 Mutations in Microsatellite-Unstable Colorectal and Endometrial Tumors

Ferreira, A. M., Tuominen, I., van Dijk-Bos, K., Sanjabi, B., van der Sluis, T., van der Zee, A. G., Hollema, H., Zazula, M., Sijmons, R. H., Aaltonen, L. A., Westers, H. & Hofstra, R. M. W., Dec 2014, In : Human Mutation. 35, 12, p. 1442-1445 4 p.

Research output: Contribution to journalArticleScientificpeer-review

Identification of 33 candidate oncogenes by screening for base-specific mutations

Tuupanen, S., Hanninen, U. A., Kondelin, J., von Nandelstadh, P., Cajuso, T., Gylfe, A. E., Katainen, R., Tanskanen, T., Ristolainen, H., Bohm, J., Mecklin, J-P., Järvinen, H., Renkonen-Sinisalo, L., Andersen, C. L., Taipale, M., Taipale, J., Vahteristo, P., Lehti, K., Pitkanen, E. & Aaltonen, L. A., 14 Oct 2014, In : British Journal of Cancer. 111, 8, p. 1657-1662 6 p.

Research output: Contribution to journalArticleScientificpeer-review

Identification of Novel Germline Variants in Early-Onset Familial Classical Hodgkin Lymphoma with Exome Sequencing

Kilpivaara, O., Ristolainen, H., Kamper, P., Taskinen, M., Saarinen, S., Leppa, S., d'Amore, F. & Lauri, A. A., 6 Dec 2014, In : Blood. 124, 21, p. 4402 3 p.

Research output: Contribution to journalMeeting AbstractResearchpeer-review

MED12 mutation frequency in unselected sporadic uterine leiomyomas

Heinonen, H-R., Sarvilinna, N. S., Sjoberg, J., Kampjarvi, K., Pitkanen, E., Vahteristo, P., Makinen, N. & Aaltonen, L. A., Oct 2014, In : Fertility and Sterility : official journal of the American Fertility Society . 102, 4, p. 1137-1142 6 p.

Research output: Contribution to journalArticleScientificpeer-review