title: High prevalence of the 999del5 mutation in icelandic breast and ovarian cancer patients.
abstract: 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.
authors.affiliation: Department of Pathology, University Hospital of Iceland, Reykjavik, Iceland.
authors.forename: G
authors.initials: G
authors.lastname: Johannesdottir
authors.forename: J
authors.initials: J
authors.lastname: Gudmundsson
authors.forename: J T
authors.initials: JT
authors.lastname: Bergthorsson
authors.forename: A
authors.initials: A
authors.lastname: Arason
authors.forename: B A
authors.initials: BA
authors.lastname: Agnarsson
authors.forename: G
authors.initials: G
authors.lastname: Eiriksdottir
authors.forename: O T
authors.initials: OT
authors.lastname: Johannsson
authors.forename: A
authors.initials: A
authors.lastname: Borg
authors.forename: S
authors.initials: S
authors.lastname: Ingvarsson
authors.forename: D F
authors.initials: DF
authors.lastname: Easton
authors.forename: V
authors.initials: V
authors.lastname: Egilsson
authors.forename: R B
authors.initials: RB
authors.lastname: Barkardottir
mesh_terms: D000328:Adult; D000367:Age Factors; D000368:Aged; D000369:Aged, 80 and over; D024682:BRCA2 Protein; D001483:Base Sequence; D001943:Breast Neoplasms / Q000235:genetics*; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008875:Middle Aged; D008969:Molecular Sequence Data; D009363:Neoplasm Proteins / Q000235:genetics*; D010051:Ovarian Neoplasms / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors