Contact information

Lauri A. Aaltonen
M.D., Ph.D.
Academy Professor
Genome-Scale Biology Program & Department of Medical Genetics
Biomedicum Helsinki
P.O. Box 63 (Haartmaninkatu 8)
FI-00014 University of Helsinki, Finland
Tel. +358-2941 25595
Email: firstname.surname @helsinki.fi


Affiliations


 

Publications

For full list of publications, see here.

Selected publications

Mehine M, Kaasinen E, Heinonen H-R, Mäkinen N, Kämpjärvi K, Sarvilinna N, Aavikko M, Vähärautio A, Pasanen A, Bützow R, Heikinheimo O, Sjöberg J, Pitkänen E, Vahteristo P & Aaltonen LA. Integrated data analysis reveals uterine leiomyoma subtypes with distinct driver pathways and biomarkers. Proceedings of the National Academy of Sciences 113, 1315-1320, 2016.

Katainen R, Dave K, Pitkänen E, Palin K, Kivioja T, Välimäki N, Gylfe A, Ristolainen H, Hänninen UA, Cajuso T, Kondelin J, Tanskanen T, Mecklin J-P, Järvinen H, Renkonen-Sinisalo L, Lepistö A, Kaasinen A, Kilpivaara O, Tuupanen S, Enge M, Taipale J & Aaltonen LA. CTCF/cohesin binding sites are frequently mutated in cancer. Nature Genetics 43, 818-821, 2015.

Mehine M, Kaasinen E, Mäkinen N, Katainen R, Kämpjärvi K, Pitkänen E, Heinonen H-R, Bützow R, Kilpivaara O, Kuosmanen A, Ristolainen H, Gentile M, Sjöberg J, Vahteristo P & Aaltonen LA. Characterization of Uterine Leiomyomas by Whole Genome Sequencing. New England Journal of Medicine 369, 453-463, 2013.

Sur IK, Hallikas O, Vähärautio A, Yan J, Turunen M, Enge M, Taipale M, Karhu A, Aaltonen LA & Taipale J. Mice Lacking a Myc Enhancer Element that Includes Human SNP rs6983267 are Resistant to Intestinal Tumors. Science 338, 1360-1363, 2012.

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. MED12, the Mediator Complex Subunit 12 Gene, Is Mutated at High Frequency in Uterine Leiomyomas. Science 334(6053): 252-5, 2011.

Tuupanen S, Turunen M, Lehtonen R, Hallikas O, Vanharanta S, Kivioja T, Björklund M, Wei G, Yan J, Niittymäki I, Mecklin JP, Järvinen H, Ristimäki A, Di-Bernardo M, East P, Carvajal-Carmona L, Houlston RS, Tomlinson I, Palin K, Ukkonen E, Karhu A, Taipale J, Aaltonen LA. The common colorectal cancer predisposition SNP rs6983267 at chromosome 8q24 confers potential to enhanced Wnt signaling. Nature Genetics 41:885-90, 2009.

Alhopuro P, Phichith, Tuupanen S, Sammalkorpi H, Nybondas M, Saharinen J, Robinson J.P., Yang Z, Chen L-Q, Orntoft T, Mecklin J-P, Järvinen H, Eng C, Moeslein G, Shibata D, Houlston RS, Lucassen A, Tomlinson IPM, Launonen V, Ristimäki A, Arango D, Karhu A, Sweeney HL, Aaltonen LA.Unregulated smooth-muscle myosin in human intestinal neoplasia. Proceedings of the National Academy of Sciences vol.105, no.14, 5513-5518, 2008

Georgitsi M, Raitila A, Karhu A, Tuppurainen K, Mäkinen MJ, Vierimaa O, Paschke R, Saeger W, van der Luijt RB, Sane T, Robledo M, De Menis E, Weil RJ, Wasik A, Zielinski G, Lucewicz O, Lubinski J, Launonen V, Vahteristo P & Aaltonen LA. Molecular diagnosis of pituitary adenoma predisposition, caused by aryl hydrocarbon receptor interacting protein gene mutations. Proceedings of the National Academy of Sciences 104, 4101-4105, 2007.

Vierimaa O, Georgitsi M, Lehtonen R, Vahteristo P, Kokko A, Raitila A, Tuppurainen K, Ebeling TML, Salmela PI, Paschke R, Gündogdu S, de Menis E, Mäkinen M, Launonen V, Karhu A & Aaltonen LA. Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 312: 1228-1230, 2006.

Tomlinson IPM, Alam NA, Rowan AJ, Barclay E, 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.. Germline mutations in the fumarate hydratase gene predispose to dominantly inherited uterine fibroids, skin leiomyomata and renal cell cancer. Nature Genetics 30: 406-410, 2002.

Launonen V, Vierimaa O, Kiuru M, Isola J, Roth S, Pukkala E, Sistonen P, Herva H, Aaltonen LA. Inherited susceptibility to uterine leiomyomas and renal cell cancer. Proceedings of the National Academy of Sciences 98: 3387-3392, 2001.

Hemminki A, Markie D, Tomlinson I, Avizienyte E, Roth S, Loukola A, Bignell G, Warren W, Aminoff M, Höglund P, Järvinen H, Kristo P, Pelin K, Ridanpää M, Salovaara R, Toro T, Bodmer W, Olschwang S, Olsen AS, Stratton MR, de la Chapelle A, Aaltonen LA. A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature 391: 184-187, 1998.

Aaltonen LA, Salovaara R, Kristo P, Canzian F, Hemminki A, Peltomäki P, Chadwick RB, Percesepe A, Kääriäinen H, Ahtola H, Eskelinen M, Härkönen N, Julkunen R, Kangas E, Ojala S, Tulikoura J, Valkamo E, Järvinen H, Mecklin JP, de la Chapelle A. Incidence of hereditary nonpolyposis colorectal cancer, and molecular screening for the disease. New England Journal of Medicine 338: 1481-1487, 1998.

Howe JR, Roth S, Ringold JC, Summers RW, Järvinen HJ, Sistonen P, Tomlinson IPM, Houlston RS, Bevan S, Mitros FA, Stone EM, Aaltonen LA. Mutations in the SMAD4/DPC4 gene in juvenile polyposis. Science 280: 1086-1088, 1998.