Lawrence S. Bloomberg Faculty of Nursing, University of Toronto, Toronto, ON, Canada.
Breast Cancer Res Treat. 2012 Jun;133(2):735-40. doi: 10.1007/s10549-011-1941-0. Epub 2012 Jan 13.
There are two mutations in BRCA1 and one in BRCA2, which are present in up to 2.5% of Jewish women. Population genetic testing for Jewish women has been proposed; however, it is unclear how this would impact the uptake of cancer prevention options and psychosocial functioning in women with a positive result. Two thousand and eighty unselected Jewish women were tested for the Jewish BRCA mutations, and 1.1% were positive. Cancer-related distress was measured before testing, and at 1 and 2 years post-testing. Information on uptake of cancer risk reduction options was collected at 2 years. Breast and ovarian cancer risks were estimated using BRCAPRO. Within 2 years of receiving a positive result, 11.1% of women had prophylactic mastectomy, and 89.5% had a prophylactic oophorectomy. The mean breast cancer risk was estimated to be 37.2% at time of testing, compared to 20.9% at 2 years post-testing. The mean ovarian cancer risk was estimated to be 24.5% at time of testing, compared to 7.5% at 2 years following testing. Distress decreased between 1 and 2 years for women with prophylactic mastectomy and oophorectomy (P = 0.02), and for women with prophylactic oophorectomy only (P = 0.04) but not for those with neither surgery. The majority of Jewish women with a BRCA mutation identified through a population screening elected prophylactic oophorectomy, but a few had a prophylactic mastectomy. Uptake of either surgery resulted in decreased distress. Provision of population BRCA testing resulted in reduced risks of breast and ovarian cancers in women with a mutation.
BRCA1 中有两个突变，BRCA2 中有一个突变，这些突变在多达 2.5%的犹太女性中存在。已经有人提议对犹太女性进行群体遗传检测；然而，目前尚不清楚这将如何影响阳性结果女性对癌症预防选择和心理社会功能的接受程度。对 2080 名未经选择的犹太女性进行了犹太 BRCA 突变检测，其中 1.1%呈阳性。在检测前、检测后 1 年和 2 年测量了癌症相关的困扰程度。在 2 年内收集了关于减少癌症风险选择的接受情况的信息。使用 BRCAPRO 估算了乳腺癌和卵巢癌的风险。在收到阳性结果后的 2 年内，有 11.1%的女性进行了预防性乳房切除术，89.5%的女性进行了预防性卵巢切除术。在检测时，估计平均乳腺癌风险为 37.2%，而在检测后 2 年时为 20.9%。在检测时，估计平均卵巢癌风险为 24.5%，而在检测后 2 年时为 7.5%。对于进行预防性乳房切除术和卵巢切除术的女性（P = 0.02）以及仅进行预防性卵巢切除术的女性（P = 0.04），其在 1 年和 2 年时的困扰程度均下降，但对于未进行任何手术的女性则不然。通过群体筛查发现的 BRCA 突变的大多数犹太女性选择了预防性卵巢切除术，但少数女性进行了预防性乳房切除术。这两种手术的接受率都降低了困扰程度。提供群体 BRCA 检测导致携带突变的女性的乳腺癌和卵巢癌风险降低。
