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Titolo:
The exon 13 duplication in the BRCA1 gene is a founder mutation present ingeographically diverse populations
Autore:
Mazoyer, S; Leary, J; Kirk, J; Fleischmann, E; Wagner, T; Claes, K; Messiaen, L; Foulkes, W; Desrochers, M; Simard, J; Phelan, CM; Kwan, E; Narod, SA; Vahteristo, P; Nevanlinna, H; Durando, X; Bignon, YJ; Peyrat, JP; Bonnardel, C; Sinilnikova, OM; Puget, N; Lenoir, GM; Mazoyer, S; Audoynaud, C; Goldgar, D; Maugard, C; Caux, V; Gad, S; Stoppa-Lyonnet, D; Nogues, C; Lidereau, R; Machavoine, C; Bressac-de Paillerets, B; Kuschel, B; Betz, B; Niederacher, D; Beckmann, MW; Hamann, U; Gayther, SA; Ponder, BAP; Robinson, M; Taylor, GR; Bishop, T; Catteau, A; Solomon, E; Cohen, B; Steel, M; Collins, N; Stratton, M; van der Looij, M; Olah, E; Miller, NJ; Barton, DE; Sverdlov, RS; Friedman, E; Radice, P; Montagna, M; Sensi, E; Caligo, M; van Eijk, R; Devilee, P; van der Luijt, R; Heimdal, K; Moller, P; Borg, A; Diez, O; Cortes, J; Domenech, M; Baiget, M; Osorio, A; Benitez, J; Borg, A; Maillet, P; Sappino, AP; Ozdag, H; Ozcelik, T; Ozturk, M; Rohlfs, EM; Boyd, J; McDermott, D; Offit, K; Unger, M; Nathanson, K; Weber, BL; Sellers, TA; Hampton, E; Couch, FJ; Neuhausen, S;
Indirizzi:
Fac Med, UMR CNRS UCBL 5641, F-69373 Lyon 08, France Fac Med Lyon France08 Med, UMR CNRS UCBL 5641, F-69373 Lyon 08, France
Titolo Testata:
AMERICAN JOURNAL OF HUMAN GENETICS
fascicolo: 1, volume: 67, anno: 2000,
pagine: 207 - 212
SICI:
0002-9297(200007)67:1<207:TE1DIT>2.0.ZU;2-I
Fonte:
ISI
Lingua:
ENG
Soggetto:
CANCER FAMILIES; IDENTIFICATION; DELETIONS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
8
Recensione:
Indirizzi per estratti:
Indirizzo: Mazoyer, S Fac Med, UMR CNRS UCBL 5641, 8 Ave Rockefeller, F-69373 Lyon 08, France Fac Med 8 Ave Rockefeller Lyon France 08 69373 Lyon 08, France
Citazione:
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

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 thatinvolved 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 thismutation 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.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 05/07/20 alle ore 07:13:51