Frequent occurrence of BRCA2 linkage in Icelandic breast cancer families and segregation of a common BRCA2 haplotype

• Main Authors: Sigurður Ingvarsson 1956-, Júlíus Guðmundsson 1968-, Guðrún Jóhannesdóttir 1957-, Aðalgeir Arason 1957-, Jón Þór Bergþórsson 1966-, 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/1946/20740

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. This work was financially supported by the Nordic Cancer Union, the Science Fund of Iceland, the Icelandic Cancer Society Research Fund, the University of Iceland Graduate Research Fund, the Science Fund of the University Hospital of Iceland, and the Memorial Fund of Bergthora Magnusdottir and Jakob B. Bjarnason.