High prevalence of the 999del5 mutation in Icelandic breast and ovarian cancer patients

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 cance...

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Bibliographic Details
Published in:Cancer research (Chicago, Ill.) Ill.), 1996-08, Vol.56 (16), p.3663-3665
Main Authors: JOHANNESDOTTIR, G, GUDMUNDSSON, J, EGILSSON, V, BARKARDOTTIR, R. B, BERGTHORSSON, J. T, ARASON, A, AGNARSSON, B. A, EIRIKSDOTTIR, G, JOHANSSON, O. T, BORG, A, INGVARSSON, S, EASTON, D. F
Format: Article
Language:English
Subjects:
Adult
Age Factors
Aged
Aged, 80 and over
Base Sequence
Biological and medical sciences
BRCA2 Protein
Breast Neoplasms - genetics
Female
Gene Deletion
Gynecology. Andrology. Obstetrics
Humans
Mammary gland diseases
Medical sciences
Middle Aged
Molecular Sequence Data
Neoplasm Proteins - genetics
Ovarian Neoplasms - genetics
Transcription Factors - genetics
Tumors
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Summary: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.
ISSN:0008-5472
1538-7445