Short CV/Education and training

  • 1987 – 1990
    Head of the Molecular Diagnostics Laboratory, Department of Medical Genetics, University of Helsinki, Finland

  • 1990 – 1994
    Research Associate, Academy of Finland

  • 1994 – 1995
    Junior Fellow, Academy of Finland

  • 1995 – 1998
    Senior Fellow, University of Helsinki, Finland

  • 1998 – 2001
    Associate Professor, the Ohio State University, OH, USA

  • 2001 – 2002
    Academy Fellow, Academy of Finland

  • 2002 – 2004
    Research Professor of the Finnish Cancer Institute Foundation

  • 2004 – 2010
    Acting Professor in Medical Genetics, University of Helsinki, Finland

  • since 2010
    Professor in Biomedical Cancer Research, University of Helsinki, Finland

Selected publications

  • Peltomäki P, Aaltonen LA, Sistonen P, Pylkkänen L, Mecklin J-P, Järvinen H, Green JS, Jass JR, Weber JL, Leach FS, Petersen GM, Hamilton SR, de la Chapelle A, Vogelstein B. Genetic mapping of a locus predisposing to human colorectal cancer. Science 260: 810-812 (1993).

  • Nyström-Lahti M, Kristo P, Nicolaides NC, Chang S-Y, Aaltonen LA, Moisio A-L, Järvinen HJ, Mecklin J-P, Kinzler KW, Vogelstein B, de la Chapelle A, Peltomäki P. Founding mutations and Alu-mediated recombination in hereditary colon cancer. Nat Med 1: 1203-1206 (1995).

  • Kuismanen SA, Holmberg MT, Salovaara R, Schweizer P, Aaltonen LA, de la Chapelle A, Nyström-Lahti M, Peltomäki P. Epigenetic phenotypes distinguish microsatellite stable and unstable colorectal cancers. Proc Natl Acad Sci U.S.A. 96: 12661-12666 (1999).

  • Renkonen E, Zhang Y, Lohi H, Salovaara R, Abdel-Rahman WM, Nilbert M, Aittomäki K, Järvinen HJ, Mecklin J-P, Lindblom A, Peltomäki P. Altered expression of MLH1, MSH2 and MSH6 in predisposition to hereditary nonpolyposis colorectal cancer. J Clin Oncol 21: 3629-3637 (2003).

  • Ollikainen M, Abdel-Rahman WM, Moisio A-L, Lindroos A, Kariola R, Järvelä I, Pöyhönen M, Butzow R, Peltomäki P. Molecular analysis of familial endometrial carcinoma: A manifestation of hereditary nonpolyposis colorectal cancer or a separate syndrome? J Clin Oncol 23: 4609-4616 (2005).

  • Renkonen ET, Nieminen P, Abdel-Rahman WM, Moisio A-L, Järvelä I, Arte S, Järvinen HJ, Peltomäki P. Adenomatous polyposis families that screen APC mutation-negative by conventional methods are genetically heterogeneous. J Clin Oncol 23: 5651-5659 (2005).

  • Joensuu EI, Abdel-Rahman WM, Ollikainen M, Ruosaari S, Knuutila S, Peltomäki P. Epigenetic signatures of familial cancer are characteristic of tumor type and family category. Cancer Res 68: 4597-4605 (2008).

  • Gylling A, Ridanpää M, Vierimaa O, Aittomäki K, Avela K, Kääriäinen H, Laivuori H, Pöyhönen M, Sallinen S-L, Wallgren-Pettersson C, Järvinen HJ, Mecklin J-P, Peltomäki P. Large genomic rearrangements and germline epimutations in Lynch syndrome. Int J Cancer 124: 2333 ? 2340 (2009).

  • Nieminen TT, Abdel-Rahman WM, Ristimäki A, Lappalainen M, Lahermo P, Mecklin J-P, Järvinen HJ, Peltomäki P. BMPR1A mutations in hereditary nonpolyposis colorectal cancer without mismatch repair deficiency. Gastroenterology 141: e23-e26 (2011).

  • Lotsari JE, Gylling A, Abdel-Rahman WM, Nieminen TT, Aittomäki K, Friman M, Pitkänen R, Aarnio M, Järvinen HJ, Mecklin J-P, Kuopio T, Peltomäki P. Breast carcinoma and Lynch syndrome ? Molecular analysis of tumors arising in mutation carriers, non-carriers, and sporadic cases. Breast Cancer Res 14: R90 (2012).


Selected projects

Membership in scientific bodies/juries

  • Finnish Medical Association

  • Duodecim (Finnish Medical Society)

  • SLGY (Finnish Society of Medical Genetics)

  • InSiGHT (International Society for Gastrointestinal Hereditary Tumours)

  • AACR (American Association for Cancer Research)

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