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

• Main Authors: Johannesdottir, G, Gudmundsson, J, Bergthorsson, J T, Arason, A, Agnarsson, B A, Eiriksdottir, G, Johannsson, O T, Borg, A, Ingvarsson, S, Easton, D F, Egilsson, V, Barkardottir, R B
• Other Authors: Department of Pathology, University Hospital of Iceland, Reykjavik, Iceland.
• Format: Article in Journal/Newspaper
• Language: English
• Published: Waverly Press 2010
• Subjects: Adult; Age Factors; Aged; 80 and over; BRCA2 Protein; Base Sequence; Breast Neoplasms; Female; Gene Deletion; Humans; Middle Aged; Molecular Sequence Data; Neoplasm Proteins; Ovarian Neoplasms; Transcription Factors; Iceland
• Online Access: http://hdl.handle.net/2336/112033

To access publisher full text version of this article. Please click on the hyperlink in Additional Links field 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.