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

Citation
S. Mazoyer et al., The exon 13 duplication in the BRCA1 gene is a founder mutation present ingeographically diverse populations, AM J HU GEN, 67(1), 2000, pp. 207-212
Citations number
8
Language
INGLESE
art.tipo
Article
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
Journal title
AMERICAN JOURNAL OF HUMAN GENETICS
ISSN journal
0002-9297 → ACNP
Volume
67
Issue
1
Year of publication
2000
Pages
207 - 212
Database
ISI
SICI code
0002-9297(200007)67:1<207:TE1DIT>2.0.ZU;2-I
Abstract
Recently a 6-kb duplication of exon 13, which creates a frameshift in the c oding sequence of the BRCA1 gene, has been described in three unrelated U.S . families of European ancestry and in one Portuguese family. Here, our goa l was to estimate the frequency and geographic diversity of carriers of thi s duplication. To do this, a collaborative screening study was set up that involved 39 institutions from 19 countries and included 3,580 unrelated ind ividuals with a family history of the disease and 934 early-onset breast an d/or ovarian cancer cases. A total of 11 additional families carrying this mutation were identified in Australia (1), Belgium (1), Canada (1), Great B ritain (6), and the United States (2). Haplotyping showed that they are lik ely to derive from a common ancestor, possibly of northern British origin. Our results demonstrate that it is strongly advisable, for laboratories car rying out screening either in English-speaking countries or in countries wi th historical links with Britain, to include within their BRCA1 screening p rotocols the polymerase chain reaction-based assay described in this report .