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首页> 外文期刊>BJOG: an international journal of obstetrics and gynaecology >Randomised trial of population‐based BRCA BRCA BRCA testing in Ashkenazi Jews: long‐term outcomes
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Randomised trial of population‐based BRCA BRCA BRCA testing in Ashkenazi Jews: long‐term outcomes

机译：基于人口的BRCA BRCA BRCA测试的随机试验犹太人：长期成果

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摘要

Objective Unselected population‐based BRCA testing provides the opportunity to apply genomics on a population‐scale to maximise primary prevention for breast‐and‐ovarian cancer. We compare long‐term outcomes of population‐based and family‐history ( FH )/clinical‐criteria‐based BRCA testing on psychological health and quality of life. Design Randomised controlled trial ( RCT ) ( ISRCTN 73338115) GC a PPS , with two‐arms: (i) population‐screening ( PS ); (ii) FH /clinical‐criteria‐based testing. Setting North London Ashkenazi‐Jewish ( AJ ) population. Population/Sample AJ women/men. Methods Population‐based RCT (1:1). Participants were recruited through self‐referral, following pre‐test genetic counselling from the North London AJ population. Inclusion criteria : AJ women/men 18?years old; exclusion‐criteria: prior BRCA testing or first‐degree relatives of BRCA ‐carriers. Interventions : Genetic testing for three Jewish BRCA founder‐mutations: 185del AG (c.68_69del AG ), 5382insC (c.5266dupC) and 6174delT (c.5946delT), for (i) all participants in PS arm; (ii) those fulfilling FH /clinical criteria in FH arm. Linear mixed models and appropriate contrast tests were used to analyse the impact of BRCA testing on psychological and quality‐of‐life outcomes over 3?years. Main outcome measures Validated questionnaires ( HADS / MICRA / HAI / SF 12) used to analyse psychological wellbeing/quality‐of‐life outcomes at baseline/1‐year/2‐year/3‐year follow up. Results In all, 1034 individuals (691 women, 343 men) were randomised to PS ( n ?=?530) or FH ( n ?=?504) arms. There was a statistically significant decrease in anxiety ( P ?=?0.046) and total anxiety‐&‐depression scores ( P ?=?0.0.012) in the PS arm compared with the FH arm over 3?years. No significant difference was observed between the FH and PS arms for depression, health‐anxiety, distress, uncertainty, quality‐of‐life or experience scores associated with BRCA testing. Contrast tests showed a decrease in anxiety ( P ?=?0.018), health‐anxiety ( P ??0.0005) and quality‐of‐life ( P ?=?0.004) scores in both PS and FH groups over time. Eighteen of 30 (60%) BRCA carriers identified did not fulfil clinical criteria for BRCA testing. Total BRCA prevalence was 2.9% (95% CI 1.97–4.12%), BRCA 1 prevalence was 1.55% (95% CI 0.89–2.5%) and BRCA 2 prevalence was 1.35% (95% CI 0.74–2.26%). Conclusion Population‐based AJ BRCA testing does not adversely affect long‐term psychological wellbeing or quality‐of‐life, decreases anxiety and could identify up to 150% additional BRCA carriers. Tweetable abstract Population BRCA testing in Ashkenazi Jews reduces anxiety and does not adversely affect psychological health or quality of life.
机译：客观未参考的基于人口的BRCA测试提供了在人口规模上施加基因组学的机会，以最大限度地预防乳腺癌癌症。我们比较基于人口和家族历史（FH）/临床标准的BRCA测试的长期结果对心理健康和生活质量。设计随机控制试验（RCT）（ISRCTN 73338115）GC A PPS，双臂：（i）人口筛查（PS）; （ii）基于FH /临床标准的测试。设定北伦敦阿什纳齐 - 犹太人（AJ）人口。人口/样本AJ妇女/男子。方法基于人群的RCT（1：1）。在伦敦北部AJ人口的预先测试基因咨询之后，通过自我推荐招聘参与者。纳入标准：AJ女/男性＆GT; 18？岁;排除标准：先前的BRCA测试或BRCA的一级亲属 - 载体。干预措施：三个犹太BRCA的遗传检测创始人 - 突变：185del（C.68_69del Ag），5382毫升（C.5266Dupc）和6174Delt（C.5946Delt），适用于（i）PS ARM中的所有参与者; （ii）那些在FH手臂中满足FH /临床标准的人。线性混合模型和适当的对比试验用于分析BRCA测试对3年超过3年的生命和生活质量结果的影响。主要结果措施验证了调查问卷（HAIS / MICA / HAI / SF 12）用于分析基线/ 1年/ 2年/ 3年的心理健康/生活质量结果。结果全部，1034个个体（691名女性，343名男性）被随机分配给PS（n？= 530）或fh（n？= 504）臂。焦虑的显着显着降低（p？= 0.046）和总焦虑 - 与3岁以下的FH手臂相比，PS臂中的分数（P？= 0.0.012）。在FH和PS武器之间没有观察到抑郁，健康焦虑，痛苦，不确定性，与BRCA测试相关的生活质量或经验评分之间没有显着差异。对比度试验显示焦虑（p？= 0.018），健康焦虑（p≤0.0005），并且随着时间的推移，在PS和FH组中的寿命和寿命质量（P？= 0.004）。鉴定的18个（60％）BRCA载体没有满足BRCA测试的临床标准。 BRCA患病率为2.9％（95％CI 1.97-4.12％），BRCA 1患病率为1.55％（95％CI 0.89-2.5％），BRCA 2患病率为1.35％（95％CI 0.74-2.26％）。结论基于人口的AJ BRCA测试不会对长期心理健康或生活质量产生不利影响，降低焦虑，可以识别高达150％的BRCA载体。 Ashkenazi犹太人的Twelable摘要人口BRCA测试减少了焦虑，不会对心理健康或生活质量产生不利影响。

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  • 作者

    Manchanda R; Burnell M; Gaba F; Desai R; Wardle J; Gessler S; Side L; Sanderson S; Loggenberg K; Brady AF; Dorkins H; Wallis Y; Chapman C; Jacobs C; Legood R; Beller U; Tomlinson I; Menon U; Jacobs I;

  • 作者单位

    Wolfson Institute of Preventive MedicineLondon UK;

    MRC Clinical Trials UnitUniversity College LondonLondon UK;

    Wolfson Institute of Preventive MedicineLondon UK;

    MRC Clinical Trials UnitUniversity College LondonLondon UK;

    Behavioural Sciences UnitUniversity College LondonLondon UK;

    MRC Clinical Trials UnitUniversity College LondonLondon UK;

    University Hospital Southampton NHS Foundation TrustSouthampton UK;

    Behavioural Sciences UnitUniversity College LondonLondon UK;

    North East Thames Regional Genetics UnitGreat Ormond Street HospitalLondon UK;

    North West Thames Regional Genetics ServiceHarrow UK;

    St Peter's CollegeUniversity of OxfordOxford UK;

    West Midlands Regional Genetics LaboratoryBirmingham Women's NHS Foundation TrustBirmingham UK;

    West Midlands Regional Genetics ServiceBirmingham Women's NHS Foundation TrustBirmingham UK;

    Department of Clinical GeneticsGuy's HospitalLondon UK;

    Department of Health Services Research and PolicyLondon School of Hygiene and Tropical;

    Department of GynaecologyShaare Zedek Medical CentreJerusalem Israel;

    Institute of Cancer and Genomic SciencesUniversity of BirminghamBirmingham UK;

    MRC Clinical Trials UnitUniversity College LondonLondon UK;

    University of New South WalesSydney NSW Australia;

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  • 原文格式 PDF
  • 正文语种 eng
  • 中图分类 妇产科学;
  • 关键词

    Ashkenazi Jews; BRCA 1; BRCA 2; genetic testing; population testing; psychological; quality‐of‐life;

    机译：Ashkenazi犹太人;BRCA 1;BRCA 2;遗传测试;人口测试;心理学;生活质量;

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