Departamento de Hematología-Oncología, Facultad de Medicina, Pontificia Universidad Católica de Chile, Diagonal Paraguay 362, 8330077, Santiago, Chile.
Fundación Chile Sin Cáncer, Santiago, Chile.
Breast Cancer Res Treat. 2023 Jun;199(2):363-370. doi: 10.1007/s10549-023-06909-z. Epub 2023 Mar 29.
Latin American reports on genetic cancer risk assessments are scarce. In Chile, current breast cancer (BC) guidelines do not define strategies for germline genetic testing. Our study sought to quantify the disparities in access to genetic testing in Chilean BC patients, according to international standards and their clinical characteristics to explore improvement strategies.
Retrospective analysis of invasive BC databases including patients treated in a Public Hospital (PH) and in an Academic Private Center (AC) in Santiago, Chile between 2012 and 2021.
Of 5438 BC patients, 3955 had enough data for National Comprehensive Cancer Network (NCCN) categorization. From these, 1911 (48.3%) fulfilled NCCN criteria for germline testing, of whom, 300 were tested for germline mutations and 268 with multigene panels. A total of 65 pathogenic variants were found in this subset. As expected, BRCA1/2 mutations were the most frequent (17.7%). Access to genetic testing was higher in AC versus PH (19.6% vs. 10.3%, p = 0.0001). Other variables associated with germline genetic testing were BC diagnosis after 2018, being 45 years old or younger at diagnosis, BC family history (FH), FH of ovarian cancer, non-metastatic disease, and triple-negative subtype.
In our cohort, 15% of BC patients who met NCCN criteria for germline testing were effectively tested. This percentage was even lower at the PH. Current recommendations encourage universal genetic testing for BC patients; however, our findings suggest that Chile is far from reaching such a goal and national guidelines in this regard are urgently needed. To our knowledge, this is the first study of its kind in Chile and Latin America.
拉丁美洲关于遗传癌症风险评估的报告很少。在智利，目前的乳腺癌（BC）指南并未定义种系基因检测的策略。我们的研究旨在根据国际标准及其临床特征，量化智利 BC 患者接受基因检测的差异，以探索改善策略。
回顾性分析了 2012 年至 2021 年期间在智利圣地亚哥的一家公立医院（PH）和一家学术私立中心（AC）治疗的浸润性 BC 数据库中的患者。
在 5438 名 BC 患者中，有 3955 名患者有足够的数据进行国家综合癌症网络（NCCN）分类。在这些患者中，有 1911 名（48.3%）符合 NCCN 种系检测标准，其中 300 名进行了种系突变检测，268 名进行了多基因panel 检测。在这一小部分患者中发现了 65 个致病性变异。不出所料，BRCA1/2 突变最为常见（17.7%）。AC 比 PH 更容易获得基因检测（19.6%比 10.3%，p=0.0001）。与种系基因检测相关的其他变量包括 2018 年后诊断的 BC、诊断时年龄在 45 岁或以下、BC 家族史（FH）、卵巢癌 FH、非转移性疾病和三阴性亚型。
在我们的队列中，符合 NCCN 种系检测标准的 15%的 BC 患者实际上接受了检测。PH 中的这一比例甚至更低。目前的建议鼓励对 BC 患者进行普遍的基因检测；然而，我们的研究结果表明，智利远未达到这一目标，迫切需要制定这方面的国家指南。据我们所知，这是智利和拉丁美洲的首例此类研究。
