Aguilar Dione, Garza-Rodríguez María L, Pérez-Ibave Diana C, Muñiz-Garza Carolina E, Treviño Victor, Villarreal-Garza Cynthia M, Vidal-Gutiérrez Oscar, Burciaga-Flores Carlos H
Breast Cancer Center, Hospital Zambrano Hellion TecSalud, San Pedro Garza Garcia, México.
Servicio de Oncología, Centro Universitario Contra el Cáncer (CUCC), Hospital Universitario "Dr. José Eleuterio González," Universidad Autónoma de Nuevo León, Monterrey, México.
JCO Glob Oncol. 2025 Jan;11:e2400065. doi: 10.1200/GO.24.00065. Epub 2025 Jan 8.
Hereditary cancer syndromes (HCS) explain 5%-10% of all cancer cases. Patients with more than one germline pathogenic variant (GPV) result in a clinical syndrome known as multilocus inherited neoplasia allele syndrome (MINAS). In recent years, an increasing number of MINAS cases have been reported. This study aims to identify the prevalence of MINAS and determine the effect of two GPVs in HCS on patients from Northern Mexico.
Patients (N = 2,282) were recruited from four public oncology centers and two private institutions with hereditary cancer detection programs in Nuevo León, México. A medical geneticist collected all the patient's clinical data and gave genetic counseling. Patients with MINAS were detected using multigene panels to detect GPVs; findings were classified according to American College of Medical Genetics and Genomics guidelines. The genetic data of patients with MINAS were evaluated by their frequency and combination.
We found 386 (16.9%) patients with one or more variants and 23 (5.9%) MINAS patients (all females). The most frequent diagnosis was breast cancer (BC) in 20 (86.95%) cases, whereas 16 (69.56%) had triple-negative BC. We found 13 patients with GPVs (56.52%) as the most frequent, followed by with five cases (21.73%). The combinations of , , and were the most frequent. We found no atypical presentation in the cohort.
This is the first Mexican MINAS report and the largest Latin American cohort. We detected a higher prevalence of MINAS than other populations (5.9%). We found a tendency for additive phenotypical effect and, in some MINAS combinations, a modification in the age of diagnosis.
遗传性癌症综合征（HCS）可解释所有癌症病例的5%-10%。携带多个生殖系致病变异（GPV）的患者会导致一种称为多位点遗传性肿瘤等位基因综合征（MINAS）的临床综合征。近年来，报道的MINAS病例数量不断增加。本研究旨在确定墨西哥北部MINAS的患病率，并确定HCS中两个GPV对患者的影响。
从墨西哥新莱昂州的四个公共肿瘤中心和两个设有遗传性癌症检测项目的私立机构招募了2282名患者。一名医学遗传学家收集了所有患者的临床数据并提供遗传咨询。使用多基因检测板检测GPV来发现MINAS患者；检测结果根据美国医学遗传学与基因组学学会的指南进行分类。通过MINAS患者的基因数据频率和组合对其进行评估。
我们发现386名（16.9%）患者有一个或多个变异，23名（5.9%）MINAS患者（均为女性）。最常见的诊断是乳腺癌（BC），共20例（86.95%）；其中16例（69.56%）为三阴性乳腺癌。我们发现13名患者携带 GPV（56.52%）最为常见，其次是 有5例（21.73%）。 、 和 的组合最为常见。我们在该队列中未发现非典型表现。
这是首份墨西哥MINAS报告，也是拉丁美洲最大的队列研究。我们检测到MINAS的患病率高于其他人群（5.9%）。我们发现了累加表型效应的趋势，并且在一些MINAS组合中，诊断年龄有所改变。
