title: Evidence of a founder BRCA1 mutation in Scotland.
abstract: BRCA1 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.
authors.affiliation: University of Toronto, Breast Cancer Research, Ontario, Canada.
authors.forename: A
authors.initials: A
authors.lastname: Liede
authors.forename: B
authors.initials: B
authors.lastname: Cohen
authors.forename: D M
authors.initials: DM
authors.lastname: Black
authors.forename: R H
authors.initials: RH
authors.lastname: Davidson
authors.forename: A
authors.initials: A
authors.lastname: Renwick
authors.forename: E
authors.initials: E
authors.lastname: Hoodfar
authors.forename: O I
authors.initials: OI
authors.lastname: Olopade
authors.forename: M
authors.initials: M
authors.lastname: Micek
authors.forename: V
authors.initials: V
authors.lastname: Anderson
authors.forename: R
authors.initials: R
authors.lastname: De Mey
authors.forename: A
authors.initials: A
authors.lastname: Fordyce
authors.forename: E
authors.initials: E
authors.lastname: Warner
authors.forename: J L
authors.initials: JL
authors.lastname: Dann
authors.forename: M C
authors.initials: MC
authors.lastname: King
authors.forename: B
authors.initials: B
authors.lastname: Weber
authors.forename: S A
authors.initials: SA
authors.lastname: Narod
authors.forename: C M
authors.initials: CM
authors.lastname: Steel
mesh_terms: D001943:Breast Neoplasms / Q000235:genetics; D005260:Female; D018703:Founder Effect; D019398:Genes, BRCA1; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010051:Ovarian Neoplasms / Q000235:genetics; D010375:Pedigree; D012606:Scotland