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
Categorie Soggetti
Research/Laboratory Medicine & Medical Tecnology","Molecular Biology & Genetics
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
.