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

• Main Authors: Sigurður Ingvarsson 1956-, Guðrún Jóhannesdóttir 1957-, Júlíus Guðmundsson 1968-, Jón Þór Bergþórsson 1966-, Aðalgeir Arason 1957-, Bjarni A. Agnarsson 1952-, Guðný Eiríksdóttir 1950-, Óskar Þór Jóhannsson 1960-, Borg, Åke, Easton, Douglas F., Valgarður Egilsson 1940-, Rósa Björk Barkardóttir 1958-
• Other Authors: Háskóli Íslands
• Format: Article in Journal/Newspaper
• Language: English
• Published: 1996
• Subjects: Brjóstakrabbamein; Iceland
• Online Access: http://hdl.handle.net/1946/20745

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