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Aaltonen Lab

Contact Information:

Aaltonen Lauri A.
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

e-mail :

Member of the Finnish Center of Excellence in Cancer Genetics Research


Aaltonen Lab: Aho, Alhopuro, Vuoristo. Photo Ari Aalto


The research of the group focuses on human tumor susceptibility. Particular focus of interest has been hereditary colorectal cancer, where the group has contributed to several key discoveries; see the link for selected publications. Molecular background events in microsatellite unstable colorectal cancer is one of our long term interests.

More recently, we have identified and characterized two novel tumor predisposition syndromes. In 2001, hereditary leiomyomatosis and renal cell cancer (HLRCC) was discovered, and with our collaborators we identified the gene behind the condition as fumarase (see publications). In 2006 followed identification of germline mutations in the AIP gene in pituitary adenoma predisposition, published in Science. Unraveling the mechanism of common colon cancer predisposition was our most recent breakthrough in cancer susceptibility, in 2009.

The current focus is in utilizing registry-based approaches to identify unique cancer family materials, for whole genome/exome sequence analysis and disease gene identification. Finland provides excellent resources for this work, and an effort to systematically utilize the National Cancer Registry (operating since 1953) and Population Registry databases in cancer gene identification has been launched.

Another major area of interest is exome & whole genome sequencing of tumors. Here the discovery of MED12 as a key mutational target in uterine leiomyomas has so far been the most interesting finding, published in Science 2011.

MD PhD Maija Kiuru from the Aaltonen group received the University of Helsinki Thesis Prize 2004. Several other thesis works have been approved with distinction. The group was short-listed for the 2005 Descartes Prize.

The group was also honoured with the University of Helsinki Occupational Safety and Health Award 2005 (Yliopiston työsuojelupalkinto 2005). This prize is awarded yearly by the Labour Protection Committee of the University of Helsinki for improving quality, safety, and atmosphere of the working environment.


Page updated April 28, 2014

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