Women's College Research Institute, Toronto, ON, Canada.
Bloomberg, Faculty of Nursing, University of Toronto, Toronto, ON, Canada.
Br J Cancer. 2019 Jul;121(1):15-21. doi: 10.1038/s41416-019-0446-1. Epub 2019 Apr 11.
Women with a BRCA1 or BRCA2 mutation face high risks of breast and ovarian cancer. In the current study, we report on uptake of cancer screening and risk-reduction options in a cohort of BRCA mutation carriers from ten countries over two time periods (1995 to 2008 and 2009 to 2017).
Eligible subjects were identified from an international database of female BRCA mutation carriers and included women from 59 centres from ten countries. Subjects completed a questionnaire at the time of genetic testing, which included past use of cancer prevention options and screening tests. Biennial follow-up questionnaires were administered.
Six-thousand two-hundred and twenty-three women were followed for a mean of 7.5 years. The mean age at last follow-up was 52.1 years (27-96 years) and 42.3% of the women had a prior diagnosis of breast cancer. In all, 27.8% had a prophylactic bilateral mastectomy and 64.7% had a BSO. Screening with breast MRI increased from 70% before 2009 to 81% at or after 2009. There were significant differences in uptake of all options by country.
For women who received genetic testing more recently, uptake of prophylactic mastectomy and breast MRI is significantly higher than those who received genetic testing more than 10 years ago. However, uptake of both BSO and breast MRI is not optimal, and interventions to increase uptake are needed.
携带 BRCA1 或 BRCA2 突变的女性面临着较高的乳腺癌和卵巢癌风险。在本研究中,我们报告了在两个时期(1995 年至 2008 年和 2009 年至 2017 年)来自十个国家的 BRCA 突变携带者队列中癌症筛查和降低风险选择的接受情况。
从女性 BRCA 突变携带者国际数据库中确定合格的受试者,包括来自十个国家的 59 个中心的女性。受试者在进行基因检测时完成了一份问卷,其中包括过去使用癌症预防选择和筛查测试的情况。每两年进行一次随访问卷调查。
6223 名女性的平均随访时间为 7.5 年。末次随访时的平均年龄为 52.1 岁(27-96 岁),42.3%的女性曾被诊断为乳腺癌。总体而言,27.8%的女性接受了预防性双侧乳房切除术,64.7%的女性接受了卵巢切除术。乳腺癌 MRI 筛查的比例从 2009 年之前的 70%增加到 2009 年或之后的 81%。各国之间对所有选择的接受情况存在显著差异。
对于最近接受基因检测的女性,预防性乳房切除术和乳房 MRI 的接受率明显高于 10 年前接受基因检测的女性。然而,BSO 和乳房 MRI 的接受率都不是最佳的,需要采取干预措施来提高接受率。