阿什肯纳兹犹太人（AJ）比未经筛选的人群更容易患上BRCA1/2致病变异（PVs）。三种BRCA-Jewish基因突变（B-JFMs）构成AJ人群BRCA1/2 PVs的90%以上。基于个人/家族癌症史的测试错过了50%以上患有B-JFM的人。我们比较了澳大利亚两个基于人群的B-JFM筛查方案——使用在线工具（悉尼）和面对面的小组讨论（墨尔本）。在测试了2167名犹太人（悉尼n=594；墨尔本n=1573）中，只有1.3%（n=28）的人携带B-JFM，其中只有2人具有明显的癌症家族史（曼彻斯特评分≥12）。测试前焦虑评分正常（平均值为9.9±3.5（6-24）），测试后没有明显变化（平均值为9.5±3.3）。决策后悔（平均值为7.4±13.0（0-100））、与测试相关的压力（平均值为0.8+/2.2（0-30））以及积极体验（反向评分）（平均值为3.4±4.5（1-20））得分都很低，在悉尼和墨尔本参与者之间没有显著差异。测试后知识总体上表现良好（平均为11.8/15（±2.9）），在墨尔本高于悉尼。测试后知识相同（平均为11.7（±2.4）与11.2（±2.4））。携带B-JFM的参与者其测试后焦虑和与测试相关的压力得分更高，积极体验得分更低，但得分都在正常范围内。家族癌症史不会显著影响知识或焦虑，也不会影响B-JFM或癌症风险的测试前感知。大多数参与者（93%）对该方案表示满意/非常满意。两个B-JFM筛查方案对澳大利亚犹太社区都非常可接受。该方案能够识别多个之前不知道自己携带B-JFM的个体，其中许多人在目前的澳大利亚基于标准的测试标准下不适合接受测试。©作者（或其雇主）2023年。未经商业再利用。参见权利和许可。出版BMJ。

Ashkenazi Jewish (AJ) people have a higher incidence of BRCA1/2 pathogenic variants (PVs) than unselected populations. Three BRCA-Jewish founder mutations (B-JFMs) comprise >90% of BRCA1/2 PVs in AJ people. Personal/family cancer history-based testing misses ≥50% of people with B-JFM.We compared two population-based B-JFM screening programmes in Australia-using (1) an online tool (Sydney) and (2) in-person group sessions (Melbourne).Of 2167 Jewish people tested (Sydney n=594; Melbourne n=1573), 1.3% (n=28) have a B-JFM, only 2 of whom had a significant cancer family history (Manchester score ≥12). Pretest anxiety scores were normal (mean 9.9±3.5 (6-24)), with no significant post-result change (9.5±3.3). Decisional regret (mean 7.4±13.0 (0-100)), test-related distress (mean 0.8+/2.2 (0-30)) and positive experiences (reverse-scored) (mean 3.4±4.5 (1-20)) scores were low, with no significant differences between Sydney and Melbourne participants. Post-education knowledge was good overall (mean 11.8/15 (±2.9)) and significantly higher in Melbourne than Sydney. Post-result knowledge was the same (mean 11.7 (±2.4) vs 11.2 (±2.4)). Participants with a B-JFM had higher post-result anxiety and test-related distress and lower positive experiences, than those without a B-JFM, but scores were within the normal range. Family cancer history did not significantly affect knowledge or anxiety, or pretest perception of B-JFM or cancer risks. Most participants (93%) were satisfied/very satisfied with the programme.Both B-JFM screening programmes are highly acceptable to Australian Jewish communities. The programme enabled identification of several individuals who were previously unaware they have a B-JFM, many of whom would have been ineligible for current criteria-based testing in Australia.© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.