Sylvie Pelletier1, Nora Wong2, Zaki El Haffaf3, William D Foulkes2,4,5, Jocelyne Chiquette1,6, Pavel Hamet7, Jacques Simard1,8, Michel Dorval1,6,9. 1. Centre de Recherche du CHU de Québec-Université Laval, Quebec City, Quebec, Canada. 2. Department of Medical Genetics, Jewish General Hospital, Montreal, Quebec, Canada. 3. Service de Médecine Génique, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, Quebec, Canada. 4. Lady Davis Institute of the Jewish General Hospital, Montreal, Quebec, Canada. 5. Departments of Oncology, Human Genetics and Medicine, McGill University, Montreal, Quebec, Canada. 6. Centre des Maladies du Sein Deschênes-Fabia, CHU de Québec, Université Laval, Quebec City, Quebec, Canada. 7. Centre de Recherche, Centre Hospitalier de l'Université de Montréal (CHUM), Montreal, Quebec, Canada. 8. Faculté de Médecine, Université Laval, Quebec City, Quebec, Canada. 9. Faculté de Pharmacie, Université Laval, Quebec City, Quebec, Canada.
Abstract
PURPOSE: Most women from BRCA1/2 mutation-positive families who did not inherit the familial mutation have breast and ovarian cancer risks similar to those of women of the same age in the general population. However, recent studies suggest that some of these noncarriers may exhibit screening practices that may be considered as excessive compared to general population screening guidelines. Reasons for such tendencies remain largely unknown. This study aims to better understand how the implications of a noncarrier status are explained to these women and how their own realization of this status affects their screening behaviors. METHODS: A qualitative study was conducted with five focus groups (n = 28) in Quebec City and Montreal, Canada. RESULTS: Thematic analysis of the discussions highlighted four major themes: (i) acquiring a noncarrier identity takes place progressively; (ii) noncarriers show a range of opinions about screening; (iii) noncarriers have mixed feelings about the follow-up by their physicians and gynecologists; and (iv) noncarriers need more information in a context where genetics progresses ever more rapidly. CONCLUSION: Our results provide novel insights regarding the physician-patient interaction and the organizational aspects of the health-care system that may significantly impact the cancer screening practices of BRCA1/2 noncarriers.Genet Med 18 6, 627-634.
PURPOSE: Most women from BRCA1/2 mutation-positive families who did not inherit the familial mutation have breast and ovarian cancer risks similar to those of women of the same age in the general population. However, recent studies suggest that some of these noncarriers may exhibit screening practices that may be considered as excessive compared to general population screening guidelines. Reasons for such tendencies remain largely unknown. This study aims to better understand how the implications of a noncarrier status are explained to these women and how their own realization of this status affects their screening behaviors. METHODS: A qualitative study was conducted with five focus groups (n = 28) in Quebec City and Montreal, Canada. RESULTS: Thematic analysis of the discussions highlighted four major themes: (i) acquiring a noncarrier identity takes place progressively; (ii) noncarriers show a range of opinions about screening; (iii) noncarriers have mixed feelings about the follow-up by their physicians and gynecologists; and (iv) noncarriers need more information in a context where genetics progresses ever more rapidly. CONCLUSION: Our results provide novel insights regarding the physician-patient interaction and the organizational aspects of the health-care system that may significantly impact the cancer screening practices of BRCA1/2 noncarriers.Genet Med 18 6, 627-634.
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