A recurrent mutation in PALB2 in Finnish cancer families

Hannele Erkko, Bing Xia, Jenni Nikkilä, Johanna Schleutker, Kirsi Syrjäkoski, Arto Mannermaa, Anne Kallioniemi, Katri Pylkäs, Sanna-Maria Karppinen, Katrin Rapakko, Alexander Miron, Qing Sheng, Guilan Li, Henna Mattila, Daphne W. Bell, Daniel A. Haber, Mervi Grip, Mervi Reiman, Arja Jukkola-Vuorinen, Aki Mustonen, Juha Kere, Lauri A. Aaltonen, Veli-Matti Kosma, Vesa Kataja, Ylermi Soini, Ronny I. Drapkin, David M. Livingston () and Robert Winqvist ()
Additional contact information
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
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
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,

Nature, 2007, vol. 446, issue 7133, 316-319

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.

Date: 2007
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DOI: 10.1038/nature05609

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