A BRCA1 mutation in Native North American families

Germline mutations in the BRCA1 (MIM 113705) and BRCA2 (MIM 600185) genes have been identified for breast and ovarian cancer families of diverse ethnic backgrounds. To date, there have been no reports of Native North American families with mutations in BRCA1 or BRCA2. Here we report two families of aboriginal descent both with the same BRCA1 alterations (1510insG, 1506A>G). The families represent two aboriginal Canadian tribes (Cree and Ojibwe), although a common ancestral origin is likely. This is the first evidence of a BRCA1 mutation specific to aboriginal peoples of North America.