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Cost-effectiveness of population screening for BRCA mutations in Ashkenazi jewish women compared with family history-based testing.与基于家族史检测相比,对阿什肯纳兹犹太妇女进行BRCA突变群体筛查的成本效益。
J Natl Cancer Inst. 2014 Nov 30;107(1):380. doi: 10.1093/jnci/dju380. Print 2015 Jan.
2
Population testing for cancer predisposing BRCA1/BRCA2 mutations in the Ashkenazi-Jewish community: a randomized controlled trial.针对阿什肯纳兹犹太人群体进行癌症易感基因BRCA1/BRCA2突变的群体检测:一项随机对照试验。
J Natl Cancer Inst. 2014 Nov 30;107(1):379. doi: 10.1093/jnci/dju379. Print 2015 Jan.
3
Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer in women: U.S. Preventive Services Task Force recommendation statement.女性 BRCA 相关癌症的风险评估、遗传咨询和基因检测:美国预防服务工作组推荐声明。
Ann Intern Med. 2014 Feb 18;160(4):271-81. doi: 10.7326/M13-2747.
4
Prospective study of breast cancer incidence in women with a BRCA1 or BRCA2 mutation under surveillance with and without magnetic resonance imaging.BRCA1 或 BRCA2 突变携带者在接受和不接受磁共振成像监测下乳腺癌发病的前瞻性研究。
J Clin Oncol. 2011 May 1;29(13):1664-9. doi: 10.1200/JCO.2009.27.0835. Epub 2011 Mar 28.
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Association of risk-reducing surgery in BRCA1 or BRCA2 mutation carriers with cancer risk and mortality.BRCA1 或 BRCA2 基因突变携带者的降低风险手术与癌症风险和死亡率的关联。
JAMA. 2010 Sep 1;304(9):967-75. doi: 10.1001/jama.2010.1237.
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Meta-analysis of BRCA1 and BRCA2 penetrance.BRCA1和BRCA2基因外显率的荟萃分析。
J Clin Oncol. 2007 Apr 10;25(11):1329-33. doi: 10.1200/JCO.2006.09.1066.
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Racial differences in the use of BRCA1/2 testing among women with a family history of breast or ovarian cancer.有乳腺癌或卵巢癌家族史的女性在BRCA1/2检测使用方面的种族差异。
JAMA. 2005 Apr 13;293(14):1729-36. doi: 10.1001/jama.293.14.1729.
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Brief questions to identify patients with inadequate health literacy.用于识别健康素养不足患者的简短问题。
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Effect of a computer-based decision aid on knowledge, perceptions, and intentions about genetic testing for breast cancer susceptibility: a randomized controlled trial.基于计算机的决策辅助工具对乳腺癌易感性基因检测的知识、认知及意愿的影响:一项随机对照试验。
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Stat Med. 2004 Apr 15;23(7):1111-30. doi: 10.1002/sim.1668.

基于人群的正统犹太女性对BRCA基因检测态度的研究。

Population-Based Study of Attitudes toward BRCA Genetic Testing among Orthodox Jewish Women.

作者信息

Tang Eve Y, Trivedi Meghna S, Kukafka Rita, Chung Wendy K, David Raven, Respler Leah, Leifer Sarah, Schechter Isaac, Crew Katherine D

机构信息

Weill Cornell Medicine, Cornell University, New York, New York.

Columbia University Medical Center, New York, New York.

出版信息

Breast J. 2017 May;23(3):333-337. doi: 10.1111/tbj.12736. Epub 2016 Nov 30.

DOI:10.1111/tbj.12736
PMID:27900810
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC7278028/
Abstract

Given the high prevalence (1 in 40) of BRCA1 and BRCA2 mutations among Ashkenazi Jews, population-based BRCA genetic testing in this ethnic subgroup may detect more mutation carriers. We conducted a cross-sectional survey among Orthodox Jewish women in New York City to assess breast cancer risk, genetic testing knowledge, self-efficacy, perceived breast cancer risk and worry, religious and cultural factors affecting medical decision-making. We used descriptive statistics and multivariable logistic regression models to identify predictors of genetic testing intention/uptake. Among evaluable respondents (n = 243, 53% response rate), median age was 25 and nearly half (43%) had a family history of breast cancer. Only 49% of the women had adequate genetic testing knowledge and 46% had accurate breast cancer risk perceptions. Five percent had already undergone BRCA genetic testing, 20% stated that they probably/definitely will get tested, 28% stated that they probably/definitely will not get tested, and 46% had not thought about it. High decision self-efficacy, adequate genetic testing knowledge, higher breast cancer risk, and overestimation of risk were associated with genetic testing intention/uptake. Decision support tools that improve knowledge and self-efficacy about genetic testing may facilitate population-based BRCA testing among Orthodox Jews.

摘要

鉴于阿什肯纳兹犹太人中BRCA1和BRCA2基因突变的高患病率(1/40),在这一亚族群中开展基于人群的BRCA基因检测可能会发现更多的突变携带者。我们对纽约市的东正教犹太女性进行了一项横断面调查,以评估乳腺癌风险、基因检测知识、自我效能感、感知到的乳腺癌风险和担忧,以及影响医疗决策的宗教和文化因素。我们使用描述性统计和多变量逻辑回归模型来确定基因检测意愿/接受情况的预测因素。在可评估的受访者中(n = 243,回复率53%),中位年龄为25岁,近一半(43%)有乳腺癌家族史。只有49%的女性有足够的基因检测知识,46%对乳腺癌风险有准确的认知。5%的女性已经接受了BRCA基因检测,20%表示她们很可能/肯定会接受检测,28%表示她们很可能/肯定不会接受检测,46%则没有考虑过。较高的决策自我效能感、足够的基因检测知识、较高的乳腺癌风险以及对风险的高估与基因检测意愿/接受情况相关。提高基因检测知识和自我效能感的决策支持工具可能会促进东正教犹太人中基于人群的BRCA检测。