Evidence of a founder BRCA1 mutation in Scotland
| Autor: | Barbara L. Weber, D. M. Black, V A Anderson, Ellen Warner, E. Hoodfar, Steven A. Narod, Olufunmilayo I. Olopade, B B Cohen, R. De Mey, Rosemarie Davidson, A. Renwick, M. Micek, A. Liede, Jamie L. Dann, A. Fordyce, Mary Claire King, C. M. Steel |
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| Rok vydání: | 2000 |
| Předmět: |
Male
Cancer Research Genotype breast cancer genetics Population Ethnic group Genes BRCA1 Breast Neoplasms Biology Humans education skin and connective tissue diseases Brca1 gene Genetics Ovarian Neoplasms education.field_of_study breast-ovarian cancer syndrome Haplotype Regular Article BRCA1 BRCA2 Founder Effect Pedigree Oncology Scotland founder BRCA1/2 mutation Mutation (genetic algorithm) Mutation genotype analysis Female Breast Cancer Genetics Demography Founder effect |
| Zdroj: | British Journal of Cancer |
| ISSN: | 0007-0920 |
| Popis: | 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 |
| Databáze: | OpenAIRE |
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