Malheiro Mariana, Silva Bruno, Rosa João, Costa Tomás
Medical Oncology, Hospital CUF Tejo, Lisbon, PRT.
Oncology, Hospital de São Francisco Xavier, Lisbon, PRT.
Cureus. 2025 Jun 25;17(6):e86732. doi: 10.7759/cureus.86732. eCollection 2025 Jun.
BRCA1 and BRCA2 are key tumor suppressor genes involved in DNA repair, and their mutations significantly increase the risk of breast, ovarian, prostate, and pancreatic cancers. Despite international guidelines recommending genetic testing in patients meeting specific criteria, BRCA testing remains underutilized in Portugal, limiting early diagnosis and personalized treatment opportunities. This multicenter quality-improvement study aimed to characterize baseline BRCA testing practices and assess the impact of implementing a standardized testing protocol across three oncology centers: Unidade Local de Saúde (ULS) Lisboa Ocidental, ULS Amadora Sintra, and ULS Loures Odivelas. The intervention included baseline data collection, development of a protocol based on international best practices, dissemination to clinical teams, and post-implementation evaluation. At baseline, the three institutions requested an average of 14.16 BRCA tests per month. Following protocol implementation, the average rose to 29.66 monthly tests, representing a 109.4% increase. All centers showed improved testing rates, with the most significant relative rise at ULS Amadora Sintra (388.8%). Although differences between centers likely reflect institutional variation in awareness and resources, these findings support the effectiveness of a protocol-driven approach to improving adherence to genetic testing guidelines. This study presents the first multicenter real-world data on BRCA testing practices in Portugal and underscores the value of local engagement and standardization in advancing precision oncology.
BRCA1和BRCA2是参与DNA修复的关键肿瘤抑制基因，它们的突变会显著增加患乳腺癌、卵巢癌、前列腺癌和胰腺癌的风险。尽管国际指南建议对符合特定标准的患者进行基因检测，但在葡萄牙，BRCA检测的利用率仍然很低，限制了早期诊断和个性化治疗的机会。这项多中心质量改进研究旨在描述BRCA检测的基线实践情况，并评估在三个肿瘤中心实施标准化检测方案的影响，这三个中心分别是：西里斯本地方卫生单位（ULS Lisboa Ocidental）、阿马多拉-辛特拉地方卫生单位（ULS Amadora Sintra）和卢雷斯-奥迪韦拉斯地方卫生单位（ULS Loures Odivelas）。干预措施包括收集基线数据、根据国际最佳实践制定方案、向临床团队进行推广以及实施后的评估。在基线阶段，这三个机构每月平均进行14.16次BRCA检测。实施方案后，每月平均检测次数增至29.66次，增长了109.4%。所有中心的检测率都有所提高，其中阿马多拉-辛特拉地方卫生单位的相对增幅最大（388.8%）。尽管各中心之间的差异可能反映了机构在认识和资源方面的差异，但这些发现支持了以方案驱动的方法来提高对基因检测指南的依从性的有效性。这项研究提供了葡萄牙BRCA检测实践的首个多中心真实世界数据，并强调了地方参与和标准化在推进精准肿瘤学方面的价值。
