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

S. Mazoyer, J. Leary, J. Kirk, E. Fleischmann, T. Wagner, K. Claes, L. Messiaen, W. Foulkes, M. Desrochers, J. Simard, C. M. Phelan, E. Kwan, S. A. Narod, P. Vahteristo, H. Nevanlinna, X. Durando, Y. J. Bignon, J. P. Peyrat, C. Bonnardel, O. M. Sinilnikova & 66 others N. Puget, G. M. Lenoir, C. Audoynaud, D. Goldgar, C. Maugard, V. Caux, S. Gad, D. Stoppa-Lyonnet, C. Noguès, R. Lidereau, C. Machavoine, B. Bressac-De Paillerets, B. Kuschel, B. Betz, D. Niederacher, M. W. Beckmann, U. Hamann, S. A. Gayther, B. A P Ponder, M. Robinson, G. R. Taylor, T. Bishop, A. Catteau, E. Solomon, B. Cohen, M. Steel, N. Collins, M. Stratton, M. Van Der Looij, E. Oláh, N. J. Miller, D. E. Barton, R. S. Sverdlov, E. Friedman, P. Radice, M. Montagna, E. Sensi, M. Caligo, R. Van Eijk, P. Devilee, R. Van Der Luijt, K. Heimdal, P. Møller, Å Borg, O. Diez, J. Cortes, M. Domenech, M. Baiget, A. Osorio, J. Benítez, P. Maillet, A. P. Sappino, H. Özdag, T. Özçelik, M. Ozturk, E. M. Rohlfs, J. Boyd, D. McDermott, K. Offit, M. Unger, K. Nathanson, B. L. Weber, T. A. Sellers, E. Hampton, F. J. Couch, S. Neuhausen

Research output: Contribution to journalArticle

77 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)207-212
Number of pages6
JournalAmerican Journal of Human Genetics
Volume67
Issue number1
DOIs
Publication statusPublished - 2000

Fingerprint

BRCA1 Gene
Belgium
Ovarian Neoplasms
Canada
Exons
Breast Neoplasms
Polymerase Chain Reaction
Mutation
Population
United Kingdom

ASJC Scopus subject areas

  • Genetics

Cite this

Mazoyer, S., Leary, J., Kirk, J., Fleischmann, E., Wagner, T., Claes, K., ... Neuhausen, S. (2000). The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populations. American Journal of Human Genetics, 67(1), 207-212. https://doi.org/10.1086/302974

The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populations. / 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.; Oláh, 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.; Møller, 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.

In: American Journal of Human Genetics, Vol. 67, No. 1, 2000, p. 207-212.

Research output: Contribution to journalArticle

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, 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, 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, Oláh, 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, Møller, P, Borg, Å, Diez, O, Cortes, J, Domenech, M, Baiget, M, Osorio, A, Benítez, J, Maillet, P, Sappino, AP, Özdag, H, Özçelik, 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 2000, 'The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populations', American Journal of Human Genetics, vol. 67, no. 1, pp. 207-212. https://doi.org/10.1086/302974
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. ; Oláh, 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. ; Møller, 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. / The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populations. In: American Journal of Human Genetics. 2000 ; Vol. 67, No. 1. pp. 207-212.
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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.",
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T1 - The exon 13 duplication in the BRCA1 gene is a founder mutation present in geographicaly diverse populations

AU - Mazoyer, S.

AU - Leary, J.

AU - Kirk, J.

AU - Fleischmann, E.

AU - Wagner, T.

AU - Claes, K.

AU - Messiaen, L.

AU - Foulkes, W.

AU - Desrochers, M.

AU - Simard, J.

AU - Phelan, C. M.

AU - Kwan, E.

AU - Narod, S. A.

AU - Vahteristo, P.

AU - Nevanlinna, H.

AU - Durando, X.

AU - Bignon, Y. J.

AU - Peyrat, J. P.

AU - Bonnardel, C.

AU - Sinilnikova, O. M.

AU - Puget, N.

AU - Lenoir, G. M.

AU - Audoynaud, C.

AU - Goldgar, D.

AU - Maugard, C.

AU - Caux, V.

AU - Gad, S.

AU - Stoppa-Lyonnet, D.

AU - Noguès, C.

AU - Lidereau, R.

AU - Machavoine, C.

AU - Bressac-De Paillerets, B.

AU - Kuschel, B.

AU - Betz, B.

AU - Niederacher, D.

AU - Beckmann, M. W.

AU - Hamann, U.

AU - Gayther, S. A.

AU - Ponder, B. A P

AU - Robinson, M.

AU - Taylor, G. R.

AU - Bishop, T.

AU - Catteau, A.

AU - Solomon, E.

AU - Cohen, B.

AU - Steel, M.

AU - Collins, N.

AU - Stratton, M.

AU - Van Der Looij, M.

AU - Oláh, E.

AU - Miller, N. J.

AU - Barton, D. E.

AU - Sverdlov, R. S.

AU - Friedman, E.

AU - Radice, P.

AU - Montagna, M.

AU - Sensi, E.

AU - Caligo, M.

AU - Van Eijk, R.

AU - Devilee, P.

AU - Van Der Luijt, R.

AU - Heimdal, K.

AU - Møller, P.

AU - Borg, Å

AU - Diez, O.

AU - Cortes, J.

AU - Domenech, M.

AU - Baiget, M.

AU - Osorio, A.

AU - Benítez, J.

AU - Maillet, P.

AU - Sappino, A. P.

AU - Özdag, H.

AU - Özçelik, T.

AU - Ozturk, M.

AU - Rohlfs, E. M.

AU - Boyd, J.

AU - McDermott, D.

AU - Offit, K.

AU - Unger, M.

AU - Nathanson, K.

AU - Weber, B. L.

AU - Sellers, T. A.

AU - Hampton, E.

AU - Couch, F. J.

AU - Neuhausen, S.

PY - 2000

Y1 - 2000

N2 - 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.

AB - 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.

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