Delgado-Balderas Jesus Rolando, Garza-Rodriguez Maria Lourdes, Gomez-Macias Gabriela Sofia, Barboza-Quintana Alvaro, Barboza-Quintana Oralia, Cerda-Flores Ricardo M, Miranda-Maldonado Ivett, Vazquez-Garcia Hugo Mauricio, Valdez-Chapa Lezmes Dionicio, Antonio-Macedo Mauro, Dean Michael, Barrera-Saldaña Hugo A
Biochemistry and Molecular Medicine Department, School of Medicine, Universidad Autonoma de Nuevo Leon, Monterrey 64460, Mexico.
Pathology Department, Hospital Universitario "Dr. Jose Eleuterio-Gonzalez", Universidad Autonoma de Nuevo Leon, Monterrey 64460, Mexico.
Genes (Basel). 2018 Jul 11;9(7):349. doi: 10.3390/genes9070349.
Gynecologic cancers are among the leading causes of death worldwide, ovarian cancer being the one with the highest mortality rate. Olaparib is a targeted therapy used in patients presenting mutations in and genes. The aim of this study was to describe and gene variants in Mexican patients with ovarian cancer. Sequencing of and genes from tumors of 50 Mexican patients with ovarian cancer was made in a retrospective, non-randomized, and exploratory study. We found genetic variants in 48 of 50 cases. A total of 76 polymorphic variants were found in , of which 50 (66%) had not been previously reported. Furthermore, 104 polymorphic variants were found in , of which 63 (60%) had not been reported previously. Of these polymorphisms, 5/76 (6.6%) and 4/104 (3.8%) were classified as pathogenic in and , respectively. We have described the genetic variants in and of tumors from Northeast Mexican patients with sporadic ovarian cancers. Our results showed that the use of genetic testing helps recognize patients that carry pathogenic variants which could be beneficial for personalized medicine treatments.
妇科癌症是全球主要死因之一，卵巢癌是死亡率最高的一种。奥拉帕尼是一种用于携带BRCA1和BRCA2基因突变患者的靶向治疗药物。本研究的目的是描述墨西哥卵巢癌患者的BRCA1和BRCA2基因变异情况。在一项回顾性、非随机的探索性研究中，对50名墨西哥卵巢癌患者肿瘤的BRCA1和BRCA2基因进行了测序。我们在50例病例中的48例发现了基因变异。在BRCA1中总共发现了76个多态性变异，其中50个（66%）此前未被报道。此外，在BRCA2中发现了104个多态性变异，其中63个（60%）此前未被报道。在这些多态性中，BRCA1和BRCA2中分别有5/76（6.6%）和4/104（3.8%）被分类为致病性变异。我们描述了墨西哥东北部散发性卵巢癌患者肿瘤中BRCA1和BRCA2的基因变异情况。我们的结果表明，基因检测有助于识别携带致病性变异的患者，这可能对个性化药物治疗有益。
