BRCA1 testing in families with hereditary breast-ovarian cancer - A prospective study of patient decision making and outcomes
BRCA1 testing in families with hereditary breast-ovarian cancer - A prospective study of patient decision making and outcomes
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DOI：
10.1001/jama.275.24.1885
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发表时间：
1996-06-26
影响因子：
120.7
通讯作者：
Lynch, H
中科院分区：
文献类型：
--
作者：
Lerman, C;Narod, S;Lynch, H
目的：确定乳腺癌易感性（BRCA1 基因）检测的预测因素，并评估参与检测计划的结果。设计：前瞻性队列研究，对预测变量进行基线访谈评估（例如，社会人口统计学因素、有关遗传性癌症和基因检测的知识、对检测益处、局限性和风险的看法）。 BRCA1 测试结果是在研究环境中进行教育和咨询课程后提供的。结果变量（包括抑郁症、功能性健康状况和预防性手术计划[仅随访]）在基线和 1 个月随访访谈中进行评估。参与者。-BRCA1 相关遗传性乳腺癌卵巢癌 (HBOC) 家庭的成年男性和女性成员 (n=279)。结果。-在完成基线访谈的受试者 (n=192) 中，60% 要求获得 BRCA1 测试结果（占所有受试者的 43%）研究对象要求的结果）。有健康保险的人更频繁地要求结果（比值比 [OR]，3.74；95% 置信区间 [CI]，2.06-6.80）；更多一级亲属患有乳腺癌（OR，1.59；95% CI，1.16-2.16）；更多关于 BRCA1 检测的知识（OR，1.85；95% CI，1.36-2.50）；并表明测试益处很重要（OR，1.45；95% CI，1.13-1.86）。在随访中，与携带者和未测试个体相比，BRCA1 突变非携带者的抑郁症状和功能障碍显着减少，具有统计学意义。被确定为突变携带者的个体并没有表现出抑郁和功能障碍的增加。在未接受过预防性手术的未受影响女性中，17% (2/12) 的携带者打算进行乳房切除术，33% (4/12) 的携带者打算进行卵巢切除术。结论：只有一部分 HBOC 家庭成员可能会要求进行 BRCA1 检测（如果有）。社会经济地位较高的人和患有乳腺癌的亲属较多的人的测试使用率可能较高。对于一些在包括咨询在内的研究环境中收到测试结果的高风险个体来说，可能会有心理上的好处。需要更多的研究来评估这些结果的普遍性并评估 BRCA1 检测的长期后果。
Objectives.-To identify predictors of utilization of breast-ovarian cancer susceptibility (BRCA1 gene) testing and to evaluate outcomes of participation in a testing program.Design.-Prospective cohort study with baseline interview assessment of predictor variables (eg, sociodemographic factors, knowledge about hereditary cancer and genetic testing, perceptions of testing benefits, limitations, and risks). BRCA1 test results were offered after an education and counseling session in a research setting. Outcome variables (including depression, functional health status, and prophylactic surgery plans [follow-up only]) were assessed at baseline and 1-month follow-up interviews.Participants.-Adult male and female members (n=279) of families with BRCA1-linked hereditary breast-ovarian cancer (HBOC).Results.-Of subjects who completed a baseline interview (n=192), 60% requested BRCA1 test results (43% of all study subjects requested results). Requests for results were more frequent for persons with health insurance (odds ratio [OR], 3.74; 95% confidence interval [CI], 2.06-6.80); more first-degree relatives affected with breast cancer (OR, 1.59; 95% CI, 1.16-2.16); more knowledge about BRCA1 testing (OR, 1.85; 95% CI, 1.36-2.50); and indicating that test benefits are important (OR, 1.45; 95% CI, 1.13-1.86). At follow-up, noncarriers of BRCA1 mutations showed statistically significant reductions in depressive symptoms and functional impairment compared with carriers and nontested individuals. individuals identified as mutation carriers did not exhibit increases in depression and functional impairment. Among unaffected women with no prior prophylactic surgery, 17% of carriers (2/12) intended to have mastectomies and 33% (4/12) to have oophorectomies.Conclusions.-Only a subset of HBOC family members are likely to request BRCA1 testing when available. Rates of test use may be higher in persons of a higher socioeconomic status and those with more relatives affected with breast cancer. For some high-risk individuals who receive test results in a research setting that includes counseling, there may be psychological benefits. More research is needed to assess the generalizability of these results and evaluate the long-term consequences of BRCA1 testing.