publication . Article . 2000

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

Sylvie Mazoyer; J. Leary; Judy Kirk; E. Fleischmann; Teresa Wagner; Kathleen Claes; Ludwine Messiaen; William D. Foulkes; M. Desrochers; Jacques Simard; ...
Open Access English
  • Published: 01 Jul 2000
  • Publisher: Cell Press
  • Country: Turkey
Abstract
Cataloged from PDF version of article. 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 Au...
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Fields of Science and Technology classification: 03 medical and health sciences0302 clinical medicine0303 health sciences030220 oncology & carcinogenesis030304 developmental biology
free text 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, Gene frequency, Genes, BRCA1, Haplotypes, Heterozygote, Humans, Male, Middle aged, Multicenter studies, Mutation, Ovarian neoplasms, Genetics(clinical), Genetics, Genetics (clinical), Cancer Families, Identification, Deletions, Frameshift mutation, Biology, Coding region, Family history, Exon, Polymerase chain reaction, law.invention, law, Genetics, Gene duplication, Haplotype, Mutation (genetic algorithm)
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