Liede Alexander, Jack Elaine, Hegele Robert A, Narod Steven A
University of Toronto and Sunnybrook & Women's College, Health Sciences Centre, Toronto, Canada.
Hum Mutat. 2002 Apr;19(4):460. doi: 10.1002/humu.9027.
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.
在不同种族背景的乳腺癌和卵巢癌家族中已发现BRCA1（MIM 113705）和BRCA2（MIM 600185）基因的种系突变。迄今为止，尚无北美原住民家庭BRCA1或BRCA2发生突变的报道。在此，我们报告了两个具有相同BRCA1改变（1510insG，1506A>G）的原住民后裔家族。这两个家族代表了两个加拿大原住民部落（克里族和奥吉布瓦族），尽管可能有共同的祖先起源。这是北美原住民特有的BRCA1突变的首个证据。
