© 2000 by Oxford University Press
Journal of the National Cancer Institute, Vol. 92, No. 18, 1529-1531,
September 20, 2000
© 2000 Oxford University Press
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Population-Based Study of BRCA1 and BRCA2 Mutations in 1035 Unselected Finnish Breast Cancer Patients
Affiliations of authors: K. Syrjäkoski, K. Kivinummi, Laboratory of Cancer Genetics, Institute of Medical Technology, Tampere University and Tampere University Hospital, Finland; P. Vahteristo, A. Tamminen, L. Sarantaus, H. Nevanlinna, Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Finland; H. Eerola, Departments of Obstetrics and Gynecology and Oncology, Helsinki University Central Hospital; K. Holli, Department of Oncology, Tampere University Hospital; C. Blomqvist, Department of Oncology, Helsinki University Central Hospital, and Department of Oncology, Uppsala University Hospital, Sweden; O.-P. Kallioniemi, T. Kainu, Laboratory of Cancer Genetics, Institute of Medical Technology, Tampere University and Tampere University Hospital, and Cancer Genetics Branch, National Human Genome Research Institute, Bethesda, MD.
Correspondence to: Heli Nevanlinna, Ph.D., Department of Obsterics and Gynecology, P.O. Box 140, Haartmaninkatu 2, FIN-00029, Helsinki University Central Hospital, Helsinki, Finland (e-mail: Heli.Nevanlinna@hus.fi).
Two highly penetrant genes involved in hereditary breast and/or ovarian cancer syndromes, BRCA1 and BRCA2, have been identified (1,2). Mutations in these genes occur throughout their coding sequences, making large-scale testing for mutations challenging. It is, therefore, not surprising that only a few studies have reported estimates of the mutation frequencies among unselected breast cancer patients. Usually, only a few hundred patients have been analyzed in each study, with mutation frequencies ranging from 3.3% to 5.7% for BRCA1 (3–5). The largest studies of BRCA1 and BRCA2 mutations have been carried out in isolated populations, such as the Icelanders or Ashkenazi Jews (6), where individual, highly recurrent founder mutations account for the majority of all mutations (7,8). Results derived from such populations may, however, be biased by
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