Background: Hereditary breast and ovarian cancers (HBOCs) pose significant health risks worldwide and are mitigated by prophylactic interventions. However, a meta-analysis of their efficacy and the impact of different genetic variants on their effectiveness is lacking. Methods: A systematic review and meta-analysis were conducted, adhering to Cochrane guidelines. The review encompassed studies that involved prophylactic interventions for healthy women with BRCA variants, focusing on cancer incidence and mortality outcomes. The Newcastle–Ottawa Scale was used for risk of bias assessment. We pooled the extracted outcomes using random effects models and conducted subgroup analyses stratified by intervention, variant, and cancer types. Results: A total of 21 studies met the inclusion criteria. The meta-analysis revealed that prophylactic interventions significantly reduced cancer risk and mortality. The subgroup analysis showed a greater protective effect for BRCA2 than BRCA1 variant carriers. Risk-reducing surgeries (RRS) were more effective than chemoprevention, with RRS notably reducing cancer risk by 56% compared to 39% for chemoprevention. Prophylactic oophorectomy significantly reduced HBOC risks, while the effect of prophylactic mastectomy and chemoprevention on mortality was less conclusive. Conclusions: Prophylactic interventions significantly reduce the risk of HBOC and associated mortality. This comprehensive analysis provides insights for future economic evaluations and clinical decision-making in HBOC interventions.
背景：遗传性乳腺癌与卵巢癌（HBOCs）在全球范围内构成显著健康风险，可通过预防性干预措施降低风险。然而，目前尚缺乏关于这些干预措施效果及不同基因变异对其有效性影响的荟萃分析。方法：本研究遵循Cochrane指南进行系统综述与荟萃分析，纳入针对携带BRCA基因变异健康女性实施预防性干预的研究，重点关注癌症发病率与死亡率结局。采用纽卡斯尔-渥太华量表进行偏倚风险评估，通过随机效应模型合并提取的结局指标，并按干预措施类型、基因变异及癌症类型进行亚组分析。结果：共21项研究符合纳入标准。荟萃分析显示预防性干预措施能显著降低癌症风险与死亡率。亚组分析表明BRCA2变异携带者的保护效果优于BRCA1携带者。风险降低手术（RRS）较化学预防更为有效，其中RRS可使癌症风险降低56%，而化学预防仅降低39%。预防性卵巢切除术显著降低HBOC风险，而预防性乳房切除术与化学预防对死亡率的影响尚不明确。结论：预防性干预措施可显著降低HBOC及其相关死亡率风险。本综合分析为未来HBOC干预措施的经济评估与临床决策提供了重要依据。
肿瘤(癌症)患者之家