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A recurrent mutation in PALB2 in Finnish cancer families

Author

Listed:
  • Hannele Erkko

    (Department of Clinical Genetics,)

  • Bing Xia

    (Dana-Farber Cancer Institute and Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA)

  • Jenni Nikkilä

    (Department of Clinical Genetics,)

  • Johanna Schleutker

    (Laboratory of Cancer Genetics, Institute of Medical Technology, FIN-33520 University of Tampere and Tampere University Hospital, Finland)

  • Kirsi Syrjäkoski

    (Laboratory of Cancer Genetics, Institute of Medical Technology, FIN-33520 University of Tampere and Tampere University Hospital, Finland)

  • Arto Mannermaa

    (Institute of Clinical Medicine, Pathology and Forensic Medicine, Kuopio University Hospital, FIN-70211 Kuopio, Finland)

  • Anne Kallioniemi

    (Laboratory of Cancer Genetics, Institute of Medical Technology, FIN-33520 University of Tampere and Tampere University Hospital, Finland)

  • Katri Pylkäs

    (Department of Clinical Genetics,)

  • Sanna-Maria Karppinen

    (Department of Clinical Genetics,)

  • Katrin Rapakko

    (Department of Clinical Genetics,)

  • Alexander Miron

    (Dana-Farber Cancer Institute and Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA)

  • Qing Sheng

    (Dana-Farber Cancer Institute and Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA)

  • Guilan Li

    (Dana-Farber Cancer Institute and Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA)

  • Henna Mattila

    (Laboratory of Cancer Genetics, Institute of Medical Technology, FIN-33520 University of Tampere and Tampere University Hospital, Finland)

  • Daphne W. Bell

    (Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts 02129, USA
    Present address: National Human Genome Research Institute/NIH, Bethesda, Maryland 20892, USA.)

  • Daniel A. Haber

    (Massachusetts General Hospital and Harvard Medical School, Charlestown, Massachusetts 02129, USA)

  • Mervi Grip

    (Department of Surgery,)

  • Mervi Reiman

    (Department of Clinical Genetics,)

  • Arja Jukkola-Vuorinen

    (Department of Oncology,)

  • Aki Mustonen

    (Department of Clinical Genetics,)

  • Juha Kere

    (University of Helsinki and Biomedicum Helsinki, FIN-00014 HY, Finland
    and Clinical Research Centre, Karolinska Institutet, SE-17177 Huddinge, Sweden)

  • Lauri A. Aaltonen

    (University of Helsinki and Biomedicum Helsinki, FIN-00014 HY, Finland)

  • Veli-Matti Kosma

    (Institute of Clinical Medicine, Pathology and Forensic Medicine, Kuopio University Hospital, FIN-70211 Kuopio, Finland)

  • Vesa Kataja

    (Institute of Clinical Medicine, Oncology, Kuopio University Hospital, FIN-70211 Kuopio, Finland)

  • Ylermi Soini

    (University of Oulu and Oulu University Hospital, FIN-90029 OYS, Finland)

  • Ronny I. Drapkin

    (Dana-Farber Cancer Institute and Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA)

  • David M. Livingston

    (Dana-Farber Cancer Institute and Harvard Medical School, 44 Binney Street, Boston, Massachusetts 02115, USA)

  • Robert Winqvist

    (Department of Clinical Genetics,)

Abstract

Breast cancer BRCA1, BRCA2 and other established susceptibility genes account for less than half of the known hereditary predisposition to breast cancer. So there are other relevant genes to be discovered. A new study in a Finnish population has identified a recurrent mutation in the PALB2 gene that is associated with increased breast cancer risk. PALB2 acts with BRCA2 in DNA repair, and the newly identified mutations impair this function.

Suggested Citation

  • Hannele Erkko & Bing Xia & Jenni Nikkilä & Johanna Schleutker & Kirsi Syrjäkoski & Arto Mannermaa & Anne Kallioniemi & Katri Pylkäs & Sanna-Maria Karppinen & Katrin Rapakko & Alexander Miron & Qing Sh, 2007. "A recurrent mutation in PALB2 in Finnish cancer families," Nature, Nature, vol. 446(7133), pages 316-319, March.
    • Handle: RePEc:nat:nature:v:446:y:2007:i:7133:d:10.1038_nature05609
    DOI: 10.1038/nature05609
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