High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients
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Bergthorsson, J T
Agnarsson, B A
Johannsson, O T
Easton, D F
Barkardottir, R B
MetadataShow full item record
CitationCancer Res. 1996, 56(16):3663-5
AbstractStudies 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.
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