Frequent occurrence of BRCA2 linkage in Icelandic breast cancer families and segregation of a common BRCA2 haplotype.
Cloning of a breast cancer-predisposing gene (BRCA2) on chromosome 13Q12-14 has been reported recently. We analyzed seven large Icelandic breast cancer families with markers from the BRCA2 region. Five families showed strong evidence of linkage. The maximum two-point LOD scores for the five BRCA2-linked families ranged from 1.06 to 3.19. Haplotype analyses revealed a region with identical allele sizes between the families, suggesting that they have inherited the mutation from a common ancestor. Cancer types other than breast cancer occur in individuals, segregating the affected haplotype within these families. This suggests that mutations in the gene may also confer some risk of other malignancies in both males and females.
Gudmundsson
J
J
Department of Pathology, Division of Cell Biology, University Hospital of Iceland, Reykjavik, Iceland.
Johannesdottir
G
G
Arason
A
A
Bergthorsson
J T
JT
Ingvarsson
S
S
Egilsson
V
V
Barkardottir
R B
RB
D000368:Aged; D024682:BRCA2 Protein; D001943:Breast Neoplasms / Q000235:genetics*; D002882:Chromosomes, Human, Pair 13; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D007055:Iceland; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009363:Neoplasm Proteins / Q000235:genetics*; D009369:Neoplasms / Q000235:genetics; D010051:Ovarian Neoplasms / Q000235:genetics; D010375:Pedigree; D014157:Transcription Factors / Q000235:genetics*
D024682:BRCA2 Protein; D005819:Genetic Markers; D009363:Neoplasm Proteins; D014157:Transcription Factors