S Guedaoura1,2, S Pelletier2, W D Foulkes3,4, P Hamet5,6, J Simard2,7, N Wong4, Z El Haffaf5,7, J Chiquette2,7,8, M Dorval1,2,8. 1. Faculté de pharmacie, Université Laval, Québec. 2. Centre de recherche du chu de Québec-Université Laval, Québec. 3. Departments of Human Genetics and Oncology, McGill University, Montreal. 4. Sir Mortimer B. Davis Jewish General Hospital, Montreal. 5. Faculté de médecine, Université de Montréal, Montréal. 6. Service de médecine génique, chum, Montréal. 7. Faculté de médecine, Université Laval, Québec; and. 8. Centre des maladies du sein Deschênes-Fabia, chu de Québec-Université Laval, Québec.
Abstract
BACKGROUND: In families with a proven BRCA1/2 mutation, women not carrying the familial mutation should follow the cancer screening recommendations applying to women in the general population. In the present study, we evaluated the cancer screening practices of unaffected noncarriers from families with a proven BRCA mutation, and we assessed the role of family history in their screening practices. METHODS: Self-report data were provided retrospectively by 220 unaffected female noncarriers for periods of up to 10 years (mean: 4.3 years) since disclosure of their BRCA1/2 genetic test result. A ratio for the annual frequency of breast and ovarian cancer screening exams (mammography, breast ultrasonography, breast magnetic resonance imaging, transvaginal or pelvic ultrasound, cancer antigen 125 testing) was calculated as number of screening exams divided by the number of years in the individual observation period. RESULTS: The annual average for mammography exams was 0.15, 0.4, 0.56, and 0.71 in women 30-39, 40-49, 50-59, and 60-69 years of age respectively. The uptake of other breast and ovarian cancer screening exams was very low. Mammography and breast ultrasonography and magnetic resonance imaging were generally more frequent among participants with at least 1 first-degree relative affected by breast cancer. CONCLUSIONS: In most noncarriers, screening practices are consistent with the guidelines concerning women in the general population. When noncarriers adopt screening behaviours that are different from those that would be expected for average-risk women, those behaviours are influenced by their familial cancer history. IMPACT: Decision tools might help female noncarriers to be involved in their follow-up in accordance with their genetic status and their family history, while taking into account the benefits and disadvantages of cancer screening.
BACKGROUND: In families with a proven BRCA1/2 mutation, women not carrying the familial mutation should follow the cancer screening recommendations applying to women in the general population. In the present study, we evaluated the cancer screening practices of unaffected noncarriers from families with a proven BRCA mutation, and we assessed the role of family history in their screening practices. METHODS: Self-report data were provided retrospectively by 220 unaffected female noncarriers for periods of up to 10 years (mean: 4.3 years) since disclosure of their BRCA1/2 genetic test result. A ratio for the annual frequency of breast and ovarian cancer screening exams (mammography, breast ultrasonography, breast magnetic resonance imaging, transvaginal or pelvic ultrasound, cancer antigen 125 testing) was calculated as number of screening exams divided by the number of years in the individual observation period. RESULTS: The annual average for mammography exams was 0.15, 0.4, 0.56, and 0.71 in women 30-39, 40-49, 50-59, and 60-69 years of age respectively. The uptake of other breast and ovarian cancer screening exams was very low. Mammography and breast ultrasonography and magnetic resonance imaging were generally more frequent among participants with at least 1 first-degree relative affected by breast cancer. CONCLUSIONS: In most noncarriers, screening practices are consistent with the guidelines concerning women in the general population. When noncarriers adopt screening behaviours that are different from those that would be expected for average-risk women, those behaviours are influenced by their familial cancer history. IMPACT: Decision tools might help female noncarriers to be involved in their follow-up in accordance with their genetic status and their family history, while taking into account the benefits and disadvantages of cancer screening.
Entities:
Keywords:
BRCA genes; cancer screening practices; cohort studies; familial cancer history; true noncarriers
Authors: S M Domchek; M M Gaudet; J E Stopfer; M H Fleischaut; J Powers; N Kauff; K Offit; K L Nathanson; M Robson Journal: Breast Cancer Res Treat Date: 2010-01 Impact factor: 4.872