Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland (original) (raw)

European Journal of Human Genetics volume 8, pages 757–763 (2000)Cite this article

Abstract

In the Finnish breast and ovarian cancer families six BRCA1 and five BRCA2 mutations have been found recurrently. Some of these recurrent mutations have also been seen elsewhere in the world, while others are exclusively of Finnish origin. A haplotype analysis of 26 Finnish families carrying a BRCA1 mutation and 20 families with a BRCA2 mutation indicated that the carriers of each recurrent mutation have common ancestors. The common ancestors were estimated to trace back to 7–36 generations (150–800 years). The time estimates and the geographical clustering of these founder mutations in Finland are in concordance with the population history of this country. Analysis of the cancer phenotypes showed differential ovarian cancer expression in families carrying mutations in the 5′ and 3′ ends of the BRCA1 gene, and earlier age of ovarian cancer onset in families with BRCA1 mutations compared with families with BRCA2 mutations. The identification of prominent and regional BRCA1 and BRCA2 founder mutations in Finland will have significant impact on diagnostics in Finnish breast and ovarian cancer families. An isolated population with known history and multiple local founder effects in multigenic disease may offer distinct advantages also for mapping novel predisposing genes.

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Authors and Affiliations

  1. Department of Obstetrics and Gynecology, Helsinki University Central Hospital,
    Laura Sarantaus, Paula Vehmanen, Pia Vahteristo, Ralf Bützow & Heli Nevanlinna
  2. Department of Clinical Genetics, University of Oulu and Oulu University Hospital, Finland
    Pia Huusko, Virpi Launonen, Katrin Rapakko, Tuija Löppönen & Robert Winqvist
  3. Department of Oncology, Helsinki University Central Hospital,
    Hannaleena Eerola & Carl Blomqvist
  4. Cancer Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    Elizabeth Gillanders
  5. Laboratory of Cancer Genetics, Institute of Medical Technology,
    Kirsi Syrjäkoski, Tommi Kainu & Olli-Pekka Kallioniemi
  6. Department of Medical Genetics, University of Helsinki,
    Ralf Krahe & Kati Pääkkönen
  7. Unit of Clinical Genetics of the Department of Gynecology, Kuopio University Hospital and University of Kuopio, Finland
    Jaana Hartikainen, Markku Ryynänen & Arto Mannermaa
  8. Department of Oncology, Tampere University Hospital,
    Kaija Holli
  9. Department of Oncology, University Hospital, Lund
    Åke Borg
  10. Department of Clinical Genetics and Institution of Molecular Medicine, CMM2, Karolinska Hospital, Stockholm
    Brita Wasteson Arver
  11. Department of Clinical Genetics, Norrland University Hospital, Umeå, Sweden
    Eva Holmberg
  12. Finnish Genome Centre, University of Helsinki,
    Juha Kere

Authors

  1. Laura Sarantaus
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  2. Pia Huusko
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  3. Hannaleena Eerola
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  4. Virpi Launonen
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  5. Paula Vehmanen
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  6. Katrin Rapakko
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  7. Elizabeth Gillanders
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  8. Kirsi Syrjäkoski
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  9. Tommi Kainu
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  10. Pia Vahteristo
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  11. Ralf Krahe
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  12. Kati Pääkkönen
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  13. Jaana Hartikainen
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  14. Carl Blomqvist
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  15. Tuija Löppönen
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  16. Kaija Holli
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  17. Markku Ryynänen
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  18. Ralf Bützow
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  19. Åke Borg
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  20. Brita Wasteson Arver
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  21. Eva Holmberg
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  22. Arto Mannermaa
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  23. Juha Kere
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  24. Olli-Pekka Kallioniemi
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  25. Robert Winqvist
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  26. Heli Nevanlinna
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Corresponding authors

Correspondence toRobert Winqvist or Heli Nevanlinna.

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Sarantaus, L., Huusko, P., Eerola, H. et al. Multiple founder effects and geographical clustering of BRCA1 and BRCA2 families in Finland.Eur J Hum Genet 8, 757–763 (2000). https://doi.org/10.1038/sj.ejhg.5200529

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