Millan Catalan Oliver, Campos-Parra Alma D, Vázquez-Romo Rafael, Cantú de León David, Jacobo-Herrera Nadia, Morales-González Fermín, López-Camarillo César, Rodríguez-Dorantes Mauricio, López-Urrutia Eduardo, Pérez-Plasencia Carlos
Laboratorio de Genómica, Instituto Nacional de Cancerología (INCan). Av. San Fernando 22, Col. Sección XVI, C.P. Tlalpan, Ciudad de México 14080, Mexico.
Departamento de Cirugía de Tumores Mamarios, Instituto Nacional de Cancerología (INCan), Av. San Fernando 22, Col. Sección XVI, C.P. Tlalpan, Ciudad de México 14080, Mexico.
Cancers (Basel). 2019 Aug 26;11(9):1246. doi: 10.3390/cancers11091246.
The presence of germline and somatic deleterious mutations in the and genes has important clinical consequences for breast cancer (BC) patients. Analysis of the mutational status in genes is not yet common in public Latin American institutions; thus, our objective was to implement high-performance technology with highly reliable results with the possibility of analyzing several patients simultaneously, therefore reducing cost and work time. A prospective cohort of 252 unrelated sporadic breast cancer patients from the Mexican-mestizo population were analyzed using next generation sequencing (NGS) based on ion semiconductor sequencing. We found 28 pathogenic mutations (25 in and 13 in ), 11 of which had not been reported previously in Hispanic or Latin American populations. A total of 38 patients were positive for a pathogenic mutation representing 15% of our Mexican women cohort with breast cancer; 25 for ; and 13 for . Our results revealed that there are mutations not analyzed by mutations panels, and our findings support the suitability of massive sequencing approaches in the public institutions of developing countries. Hence, screening should be offered to patients with breast cancer regardless of their family history of cancer in order to identify unaffected family carriers.
种系和体细胞中BRCA1和BRCA2基因有害突变的存在对乳腺癌（BC）患者具有重要的临床意义。在拉丁美洲的公共机构中，对BRCA1和BRCA2基因的突变状态进行分析尚不常见；因此，我们的目标是采用高性能技术，获得高度可靠的结果，并能够同时分析多名患者，从而降低成本和缩短工作时间。我们使用基于离子半导体测序的新一代测序（NGS）技术，对来自墨西哥混血人群的252名无亲缘关系的散发性乳腺癌患者的前瞻性队列进行了分析。我们发现了28个致病突变（BRCA1中有25个，BRCA2中有13个），其中11个此前在西班牙裔或拉丁美洲人群中未曾报道过。共有38名患者的致病突变检测呈阳性，占我们墨西哥乳腺癌女性队列的15%；BRCA1阳性的有25名；BRCA2阳性的有13名。我们的结果表明，存在一些未被突变检测板分析到的突变，并且我们的研究结果支持在发展中国家的公共机构中采用大规模测序方法的适用性。因此，无论乳腺癌患者有无癌症家族史，都应进行BRCA1和BRCA2基因检测，以识别未受影响的家族携带者。
