The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populations Journal Article
| Authors: | Mazoyer, S.; Leary, J.; Kirk, J.; Fleischmann, E.; Wagner, T.; Claes, K.; Messiaen, L.; Foulkes, W.; Desrochers, M.; Simard, J.; Phelan, C. M.; Kwan, E.; Narod, S. A.; Vahteristo, P.; Nevanlinna, H.; Durando, X.; Bignon, Y. J.; Peyrat, J. P.; Bonnardel, C.; Sinilnikova, O. M.; Puget, N.; Lenoir, G. M.; Audoynaud, C.; Goldgar, D.; Maugard, C.; Caux, V.; Gad, S.; Stoppa-Lyonnet, D.; Noguès, C.; Lidereau, R.; Machavoine, C.; Bressac-de Paillerets, B.; Kuschel, B.; Betz, B.; Niederacher, D.; Beckmann, M. W.; Hamann, U.; Gayther, S. A.; Ponder, B. A. P.; Robinson, M.; Taylor, G. R.; Bishop, T.; Catteau, A.; Solomon, E.; Cohen, B.; Steel, M.; Collins, N.; Stratton, M.; Van Der Looij, M.; Olàh, E.; Miller, N. J.; Barton, D. E.; Sverdlov, R. S.; Friedman, E.; Radice, P.; Montagna, M.; Sensi, E.; Caligo, M.; Van Eijk, R.; Devilee, P.; Van Der Luijt, R.; Heimdal, K.; Möller, P.; Borg, Å; Diez, O.; Cortes, J.; Domenech, M.; Baiget, M.; Osorio, A.; Benítez, J.; Maillet, P.; Sappino, A. P.; Özdag, H.; Özçelik, T.; Ozturk, M.; Rohlfs, E. M.; Boyd, J.; McDermott, D.; Offit, K.; Unger, M.; Nathanson, K.; Weber, B. L.; Sellers, T. A.; Hampton, E.; Couch, F. J.; Neuhausen, S. |
| Article Title: | The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populations |
| 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. |
| Keywords: | middle aged; gene mutation; exon; frameshift mutation; mutation; exons; united states; polymerase chain reaction; ovarian neoplasms; ovary cancer; breast cancer; gene frequency; haplotypes; breast neoplasms; heterozygote; haplotype; gene rearrangement; genes, brca1; gene duplication; australia; dna mutational analysis; genetic screening; age of onset; founder effect; canada; geography; breast neoplasms, male; england; multicenter studies; belgium; humans; male; female; priority journal; article |
| Journal Title: | American Journal of Human Genetics |
| Volume: | 67 |
| Issue: | 1 |
| ISSN: | 0002-9297 |
| Publisher: | Cell Press |
| Date Published: | 2000-07-01 |
| Start Page: | 207 |
| End Page: | 212 |
| Language: | English |
| DOI: | 10.1086/302974 |
| PUBMED: | 10827109 |
| PROVIDER: | scopus |
| PMCID: | PMC1287079 |
| DOI/URL: | |
| Notes: | Export Date: 18 November 2015 -- Source: Scopus |
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