Abstract
We described and compared breast and ovarian screening practices in the 2-year period following test result disclosure in female non-carriers from BRCA1/2 mutation-positive families living in two countries, France and Quebec, Canada, which provide universal health care. Four hundred and two (France n=293; Quebec n=109) unaffected female non-carriers from BRCA-proven mutation families provided information about the uptake of mammography, clinical breast examination, breast self-examination, and ovarian ultrasounds using self-administered questionnaires. The frequency of screening practices between study cohorts were compared using logistic regression. Annual mammography was conducted in 23 and 43% of French and Quebecer women participants <50 years of age, respectively (adjusted odds ratio (aOR)=2.72; 95% confidence interval (CI), 1.08–6.81). In women ≥50 years of age, mammography was conducted in 49 and 65% of French and Quebecer participants (aOR=1.77; 95% CI, 0.07–4.51). Overall, 33% of French women and 39% of Quebecer women underwent at least one ovarian ultrasound during the 2-year period following BRCA1/2 test result with no significant difference between cohorts of women <50 years of age. Among older women, Quebecers reported more frequently than French women that they had undergone ultrasound once (aOR=3.00; 95% CI, 1.02–8.83). The frequency of cancer screening practices for female non-carriers from BRCA1/2 mutation-positive families in both France and Quebec exceeded those recommended for similarly aged women in the general population. Our findings highlight the need for clearcut recommendations on the follow-up of women from BRCA1/2 families who are not themselves carriers of a BRCA1/2 mutation.
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Acknowledgements
The GENEPSO study was supported by the Fondation de France and by La Ligue Nationale Contre le Cancer; the psychosocial companion project was supported by the Institut National du Cancer (Grant No. R08097AA/RPT08011AAA INCA). The INHERIT BRCAs research program was supported by the Canadian Institutes of Health Research (Grants Nos. CRT-43822 and CRN-87521) and the Canadian Breast Cancer Research Alliance (Grant No. 11383). Michel Dorval holds a Fonds de la Recherche en Santé du Québec Investigator Award; Jacques Simard is Chairholder of the Canada Research Chair in Oncogenetics. The funders had no role in study design, data collection, or in analysis and interpretation of the results, or in the decision to publish.
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Appendices
Appendix I
The following members of the GENEPSO cohort contributed to this research: Hélène Cannoni-Zattara: CHU de la Timone, Marseille; Olivier Capron: Institut Gustave Roussy, Villejuif; Hélène Dreyfus: Clinique Sainte Catherine, Avignon; Thierry Frebourg: CHU Charles Nicolle, Rouen; Marc Frenay: Centre Antoine Lacassagne, Nice; Jean-Pierre Fricker: Centre Paul Strauss, Strasbourg; Paul Gesta: CHR Georges Renon, Niort; Rosine Guimbaud: Institut Claudius Regaud, Toulouse; Caroline Logeat, Inserm/IRD, Marseille; Elisabeth Luporsi: Centre Alexis Vautrin, Vandoeuvre les Nancy; Nguyen Tan Dat: Institut Jean Godinot, Reims; Hagay Sobol: Institut Paoli-Calmettes, Marseille; Laurence Venat-Bouvet: CHU Dupuytren, Limoges; Philippe Vennin: Centre Oscar Lambret, Lille.
Appendix II
The following members of INHERIT BRCAs contributed to this research: Paul Bessette: Service de gynécologie, Centre hospitalier Universitaire de Sherbrooke, Fleurimont; Peter Bridge: Molecular Diagnostics Laboratory, Alberta Children's Hospital, Calgary; Rachel Laframboise: Département de génétique, Centre hospitalier universitaire de Québec; Bernard Lespérance and Roxane Pichette: Hematology Oncology, Hôpital du Sacré-Cœur de Montréal, Université de Montréal, Montréal; Jean Lépine: Centre hospitalier régional de Rimouski, Rimouski; Elizabeth Maunsell: Faculté de médecine, Université Laval, Unité de recherche en santé des populations, Centre de recherche du CHA universitaire de Québec; Louise Provencher: Centre des maladies du sein Deschênes Fabia, Hôpital du Saint-Sacrement, Centre hospitalier affilié universitaire de Québec; Patricia Voyer: Clinique des maladies du sein, Carrefour de Santé de Jonquière.
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Dorval, M., Noguès, C., Berthet, P. et al. Breast and ovarian cancer screening of non-carriers from BRCA1/2 mutation-positive families: 2-year follow-up of cohorts from France and Quebec. Eur J Hum Genet 19, 494–499 (2011). https://doi.org/10.1038/ejhg.2010.227
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DOI: https://doi.org/10.1038/ejhg.2010.227
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