J. Gudmundsson et al., FREQUENT OCCURRENCE OF BRCA2 LINKAGE IN ICELANDIC BREAST-CANCER FAMILIES AND SEGREGATION OF A COMMON BRCA2 HAPLOTYPE, American journal of human genetics, 58(4), 1996, pp. 749-756
Cloning of a breast cancer-predisposing gene (BRCA2) on chromosome 13q
12-14 has been reported recently. We analyzed seven large Icelandic br
east cancer families with markers from the BRCA2 region. Five families
showed strong evidence of linkage. The maximum two-point LOD scores f
or the five BRCA2-linked families ranged from 1.06 to 3.19. Haplotype
analyses revealed a region with identical allele sizes between the fam
ilies, 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 suggest
s that mutations in the gene may also confer some risk of other malign
ancies in both males and females.