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 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.
Johannesdottir
G
G
Department of Pathology, University Hospital of Iceland, Reykjavik, Iceland.
Gudmundsson
J
J
Bergthorsson
J T
JT
Arason
A
A
Agnarsson
B A
BA
Eiriksdottir
G
G
Johannsson
O T
OT
Borg
A
A
Ingvarsson
S
S
Easton
D F
DF
Egilsson
V
V
Barkardottir
R B
RB
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*
D024682:BRCA2 Protein; D009363:Neoplasm Proteins; D014157:Transcription Factors