Evidence of a founder BRCA1 mutation in Scotland
2000; Springer Nature; Volume: 82; Issue: 3 Linguagem: Inglês
10.1054/bjoc.1999.0984
ISSN1532-1827
AutoresAlexander Liede, Brian Cohen, D M Black, Rosemarie Davidson, Andrew Renwick, Elizabeth Hoodfar, O. I. Olopade, Mark A. Micek, Vernon Anderson, R De Mey, Alison Fordyce, Ellen Warner, Jamie L. Dann, Mary‐Claire King, Barbara Weber, Steven A. Narod, C. M. Steel,
Tópico(s)Genomic variations and chromosomal abnormalities
ResumoBRCA1 mutations have been identified in breast and ovarian cancer families from diverse ethnic backgrounds. We studied 17 different families with the BRCA1 2800delAA mutation; seven were ascertained in Scotland (Dundee, Edinburgh, Glasgow, St Andrews), five in Canada (Toronto, Victoria) and five in the United States (Chicago, Philadelphia, Seattle). Overall there was a clear preponderance of Scottish ancestry. Genotype analysis performed on key members from 17 families was consistent with a common haplotype, strongly suggesting a single ancestral origin. A possible link was established between two families by tracing their genealogies through the records of the Registrar General for Scotland. This is the first example of a BRCA1 mutation likely to be derived from a common founder in Scotland. Further studies will be necessary to estimate more accurately the population frequency of the BRCA1 2800delAA mutation among unselected cases of breast and ovarian cancer in Scotland and the UK. © 2000 Cancer Research Campaign
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