Fields of Research

Contact Information

Department of Medical Genetics

Haartmaninkatu 8 (P.O. Box 63)
FI-00014 University of Helsinki
tel. +358 2941 25087
fax +358 2941 25105


Hereditary cancer

Principal Investigator

Päivi Peltomäki, MD PhD
Professor in Biomedical Cancer Research
Department of Medical Genetics
Room: B308b (Biomedicum Helsinki, Haartmaninkatu 8)
Tel: +358 2941 25092
Fax: +358 2941 25105
paivi.peltomaki (at)

Senior Scientist

Wael M. Abdel-Rahman, MD PhD, Visiting Professor, University of Sharjah, Sharjah, United Arab Emirates

Postdoctoral Fellows

Walter Pavicic, PhD, Visiting Scientist, IMBICE, La Plata, Argentina
Sippy Kaur, PhD
Annette Gylling, PhD
Taina Nieminen, PhD
Jukka Kantelinen, PhD

Graduate Students

Emmi Joensuu, MS
Johanna Lotsari, MS
Anni Niskakoski, MS
Satu Valo, MS
Oona Salminen, BS


Saila Saarinen, Medical Laboratory Technologist

Laboratory: B314b
Office: B307b
Tel. +358 2941 25103
Tel. +358 2941 25189

Research interests and projects

We use hereditary forms of common human cancers as tools to study the mechanisms of cancer predisposition, initiation and progression in hereditary and sporadic settings. Clinical entities we focus on include Lynch syndrome (hereditary non-polyposis colorectal cancer, HNPCC), familial colorectal cancer type X, familial adenomatous polyposis (FAP), and familial endometrial carcinoma.

Germline mutations in DNA mismatch repair genes give rise to Lynch syndrome, one of the most prevalent hereditary cancer syndromes in man. The Principal Investigator serves as curator of an international mutation database ( In families with an as yet unknown predisposition, our aim is to identify new mechanisms of cancer susceptibility. Apart from gene mutations, we focus on epigenetic changes, for which an ERC Advanced Grant for 2009 - 2014 forms a favorable basis.

The projects represent translational research and are characterized by close connections between basic and clinical investigators. Our strengths are excellent family and sample resources, widespread national and international collaborations, and versatile technical know-how. Our funding sources include the Sigrid Juselius Foundation, Academy of Finland, Finnish Cancer Organisations, Ministry of Education, Helsinki University Central Hospital, and European Research Council. We are part of the Biocentrum Helsinki organization.

Selected Publications
  • 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).
  • Gylling A, Abdel-Rahman WM, Juhola M, Nuorva K, Hautala E, Järvinen HJ, Mecklin J-P, Aarnio M, Peltomäki P. Is gastric cancer part of the tumor spectrum of hereditary nonpolyposis colorectal cancer? – A molecular genetic study. Gut 56: 926-933 (2007).
  • 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, Gylling A, Abdel-Rahman WM, Nuorva K, Aarnio M, Renkonen-Sinisalo L, Järvinen HJ, Mecklin J-P, Butzow R, Peltomäki P. Molecular analysis of endometrial tumorigenesis: importance of complex hyperplasia regardless of atypia. Clin Cancer Res 15: 5772 – 5783 (2009).