The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populations

Date
2000
Authors
Mazoyer, S.
Leary, J.
Kirk, J.
Fleischmann, E.
Wagner, T.
Claes, K.
Messiaen, L.
Foulkes, W.
Desrochers, M.
Simard, J.
Advisor
Instructor
Source Title
American Journal of Human Genetics
Print ISSN
0002-9297
Electronic ISSN
Publisher
Cell Press
Volume
67
Issue
1
Pages
207 - 212
Language
English
Type
Article
Journal Title
Journal ISSN
Volume Title
Abstract

Recently, a 6-kb duplication of exon 13, which creates a frameshift in the coding sequence of the BRCA1 gene, has been described in three unrelated U.S. families of European ancestry and in one Portuguese family. Here, our goal was to estimate the frequency and geographic diversity of carriers of this duplication. To do this, a collaborative screening study was set up that involved 39 institutions from 19 countries and included 3,580 unrelated individuals with a family history of the disease and 934 early-onset breast and/or ovarian cancer cases. A total of 11 additional families carrying this mutation were identified in Australia (1), Belgium (1), Canada (1), Great Britain (6), and the United States (2). Haplotyping showed that they are likely to derive from a common ancestor, possibly of northern British origin. Our results demonstrate that it is strongly advisable, for laboratories carrying out screening either in English-speaking countries or in countries with historical links with Britain, to include within their BRCA1 screening protocols the polymerase chain reaction-based assay described in this report.

Course
Other identifiers
Book Title
Keywords
Australia, Belgium, Breast cancer, Canada, Exon, Frameshift mutation, Gene duplication, Gene mutation, Gene rearrangement, Genetic screening, Geography, Haplotype, Ovary cancer, Polymerase chain reaction, Priority journal, United States, Age of onset, Breast neoplasms, Breast neoplasms, male, DNA mutational analysis, England, Exons, Female, Founder effect, Frameshift mutation, Gene duplication, Gene frequency, Genes, BRCA1, Genetic screening, Haplotypes, Heterozygote, Humans, Male, Middle aged, Multicenter studies, Mutation, Ovarian neoplasms
Citation
Published Version (Please cite this version)