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Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families

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Abstract

The Quebec population contains about six-million French Canadians, descended from the French settlers who colonized “Nouvelle-France” between 1608 and 1765. Although the relative genetic contribution of each of these founders is highly variable, altogether they account for the major part of the contemporary French-Canadian gene pool. This study was designed to analyze the role of this founder effect in the introduction and diffusion of the BRCA1 recurrent R1443X mutant allele. A highly conserved haplotype, observed in 18 French-Canadian families and generated using 17 microsatellite markers surrounding the BRCA1 locus, supports the fact that the R1443X mutation is a founder mutation in the Quebec population. We also performed haplotyping analysis of R1443X carriers on 19 other families from seven different nationalities; although the same alleles are shared for three markers surrounding the BRCA1 gene, distinct haplotypes were obtained in four families, suggesting multiple origins for the R1443X mutation. Ascending genealogies of the 18 French Canadian families and of controls were reconstructed on an average depth of 10 generations. We identified the founder couple with the highest probability of having introduced the mutation in the population. Based on the descending genealogy of this couple, we detected the presence of geographical concentration in the diffusion pattern of the mutation. This study demonstrates how molecular genetics and demogenetic analyses can complement each other to provide findings that could have an impact on public health. Moreover, this approach is certainly not unique to breast cancer genetics and could be used to understand other complex traits.

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Acknowledgments

The authors are indebted to the participants and their families for providing DNA samples. We would also like to thank Claire Brousseau, Sylvie Délos, Marie-Andrée Lajoie, Pascale Léger, Josée Rhéaume, Gilles Leblanc, Carolle Samson, Hélène Malouin, Nathalie Bolduc, Andrée McMillan and Tina Babineau of the Cancer Genomics Laboratory (Québec) and Jillian Parboosingh and Ross Mc Leod from the Molecular Diagnostic Laboratory (Alberta) for sample management and skillful technical assistance, Michèle Jomphe and France Néron from the BALSAC Project (Chicoutimi) as well as Lise Gobeil from the Interdisciplinary Research Group on Demography and Genetic Epidemiology (Chicoutimi) for genealogical reconstruction and analyses and Laurent Richard and Nicolas Lanouette from the Historical Geography Laboratory at Laval University for cartography work. We also appreciated advice received from the different ethics committees. This work was supported by the Fonds de la Recherche en Santé du Québec (FRSQ)/ Réseau de Médecine Génétique Appliquée (RMGA), the Canadian Breast Cancer Research Alliance and the Canadian Institutes of Health Research (CIHR) for the INHERIT BRCAs research program. F.D. is a recipient of a Research Career Award in the Health Sciences by IRSC/Rx&D HRF, J.S. is Chairholder of the Canada Research Chair in Oncogenetics.

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Authors and Affiliations

  1. Interdisciplinary Research Group on Demography and Genetic Epidemiology (GRIG), University of Quebec at Chicoutimi, Chicoutimi, Canada, G7H 2B1

    Hélène Vézina & Louis Houde

  2. Cancer Genomics Laboratory, CHUL Research Center, CHUQ, Laval University, T2-53, 2705 Laurier Blvd, Sainte-Foy, QC, Canada, G1V 4G2

    Francine Durocher, Martine Dumont, Martine Tranchant & Jacques Simard

  3. Genetic Epidemiology Unit, International Agency for Research on Cancer, Lyon, Cedex 08, France

    Csilla Szabo & David Goldgar

  4. Clinique des maladies du sein Deschênes-Fabia, Hôpital du Saint-Sacrement, QC, Canada, G1S 4L8

    Jocelyne Chiquette

  5. Service de gynécologie, CHUQ, L’Hôtel-Dieu de Québec, QC, Canada, G1R 2J6

    Marie Plante

  6. Service de médecine génétique, CHUQ, Pavillon CHUL, QC, Canada, G1V 4G2

    Rachel Laframboise

  7. Center hospitalier régional de Rimouski, Rimouski, Canada, G5L 5T1

    Jean Lépine

  8. Department of Obstetrics and Gynecology, Helsinki University Central Hospital, Helsinki, 00029, Finland

    Heli Nevanlinna

  9. Department of Genetics, Institut Curie, Paris, Cedex 05, France

    Dominique Stoppa-Lyonnet

  10. Molecular Diagnostic Laboratory, Alberta Children’s Hospital, Calgary, Canada, T2T 5C7

    Peter Bridge

  11. Canada Research Chair in Oncogenetics, Faculty of Medicine, Laval University, Canada

    Jacques Simard

Authors
  1. Hélène Vézina
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  2. Francine Durocher
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  3. Martine Dumont
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  4. Louis Houde
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  5. Csilla Szabo
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  6. Martine Tranchant
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  7. Jocelyne Chiquette
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  8. Marie Plante
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  9. Rachel Laframboise
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  10. Jean Lépine
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  11. Heli Nevanlinna
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  12. Dominique Stoppa-Lyonnet
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  13. David Goldgar
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  14. Peter Bridge
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  15. Jacques Simard
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Consortia

BCLC Haplotype Group

INHERIT BRCAs

Corresponding author

Correspondence to Francine Durocher.

Additional information

Other members of the BCLC Haplotype Group involved in this study are listed in Appendix 1

Other members of INHERIT BRCAs involved in this study are listed in Appendix 2

H. Vézina and F. Durocher contributed equally to this work and should be regarded as joint first author

Appendices

Appendix 1

  • Yves-Jean Bignon, Centre Jean-perrin, Clermont-Ferrand, France

  • Agnès Hardouin, Centre Régional Francois Baclesse, Caen, Normandy

  • Ludwine Messiaen Universitair Ziekenhuis, Gent, Belgium

  • Mike Stratton, Institute for Cancer Research, Sutton, Surrey, UK

  • Ans MW van den Ouweland, Erasmus Universiteit (Rotterdom, The Netherlands)

Appendix 2

  • Paul Bessette, Service de gynécologie, Centre hospitalier Universitaire de Sherbrooke, Fleurimont.

  • Bartha Maria Knoppers, Chaire de recherche en droit et médecine, Centre de recherche en droit public, Université de Montréal, Montréal.

  • Bernard Lespérance, Roxane Pichette, Service d’hémato-oncologie, Hôpital du Sacré-Cœur, Montréal.

  • Louise Provencher, Clinique des maladies du sein Deschênes-Fabia, Hôpital du Saint-Sacrement, Québec.

  • Marc Tremblay, Département des sciences humaines, Université du Québec à Chicoutimi, Chicoutimi.

  • Patricia Voyer, Clinique des maladies du sein, Carrefour de Santé de Jonquière, Jonquière.

Appendix 3

Table A Details of microsatellite markers and their relative map positions
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Vézina, H., Durocher, F., Dumont, M. et al. Molecular and genealogical characterization of the R1443X BRCA1 mutation in high-risk French-Canadian breast/ovarian cancer families. Hum Genet 117, 119–132 (2005). https://doi.org/10.1007/s00439-005-1297-9

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