No evidence of excessive cancer screening in female noncarriers from BRCA1/2 mutation–positive families

[摘要] BackgroundIn families with a provenBRCA1 / 2mutation, 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 provenBRCAmutation, and we assessed the role of family history in their screening practices. MethodsSelf-report data were provided retrospectively by 220 unaffected female noncarriers for periods of up to 10 years (mean: 4.3 years) since disclosure of theirBRCA1 / 2genetic 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. ResultsThe 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. ConclusionsIn 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. ImpactDecision 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.

[学科分类] 肿瘤学

[关键词] BRCA genes;true noncarriers;cancer screening practices;familial cancer history;cohort studies