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. 2000 Jan 18;82(3):705–711. doi: 10.1054/bjoc.1999.0984

Evidence of a founder BRCA1 mutation in Scotland

A Liede 1, B Cohen 2, D M Black 3, R H Davidson 3, A Renwick 3, E Hoodfar 1, O I Olopade 4, M Micek 5, V Anderson 2, R De Mey 2, A Fordyce 2, E Warner 6, J L Dann 7, M-C King 7, B Weber 8, S A Narod 1, C M Steel 2
PMCID: PMC2363321  PMID: 10682686

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. © 2000 Cancer Research Campaign

Keywords: BRCA1, BRCA2, breast cancer genetics, founder BRCA1/2 mutation, Scotland, genotype analysis, founder effect, breast-ovarian cancer syndrome

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Footnotes

Like USt97, she was ascertained through a survey of early onset breast cancers and, like US97, she has no known family history of breast or related cancers. Hence the penetrance of this mutation may be overestimated by selecting cases on the basis of family history. We are grateful to the authors of that report for their cooperation in providing additional information

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