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High Prevalence of the 999del5 Mutation in Icelandic Breast and Ovarian Cancer Patients¹

Laboratory of Cell Biology [G. J., J. G., J. T. B., A. A., B. A. A. G. E., S. I., V. E., R. B. B.], Department of Pathology, University Hospital of Iceland, House 14, Landspitalinn, 101 Reykjavik, Iceland; Institute of Oncology, University Hospital, S-221 85 Lund, Sweden; [O. T. J., A. B.]; and CRC Genetic Epidemiology Unit, Department of Community Medicine, Institute of Public Health, University of Cambridge, United Kingdom [D. F. E.]

Studies on Icelandic breast cancer families have shown that most of them segregate a 999del5 BRCA2 mutation. Here, we report the frequency of the 999del5 BRCA2 mutation in an Icelandic control population and four different groups of cancer patients diagnosed with (a) breast cancer; (b) ovarian cancer; (c) prostate cancer (patients younger than 65 years); and (d) other cancer types. The proportions of individuals carrying the mutation were 0.4% in the control population and in the patient groups 8.5%, 7.9%, 2.7%, and 1.0%, respectively. Our results indicate that BRCA2 confers a very high risk of breast cancer and is responsible for a substantial fraction of breast and ovarian cancer in Iceland, but only a small proportion of other cancers.

¹ This work was supported by the Nordic Cancer Union, Science Fund of Iceland, and Memorial Fund of Bergthora Magnusdottir and Jakob B. Bjarnason.

² These authors contributed equally to this study.

³ To whom requests for reprints should be addressed. Phone: (354) 560 1906; Fax: (354) 560 1519; E-mail:rosa@rsp.is.

Received 6/10/96. Accepted 7/11/96.

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