Publication Date:
2018-07-12
Description:
Genes, Vol. 9, Pages 349: Description of Genetic Variants in BRCA Genes in Mexican Patients with Ovarian Cancer: A First Step towards Implementing Personalized Medicine Genes doi: 10.3390/genes9070349 Authors: Jesus Rolando Delgado-Balderas Maria Lourdes Garza-Rodriguez Gabriela Sofia Gomez-Macias Alvaro Barboza-Quintana Oralia Barboza-Quintana Ricardo M. Cerda-Flores Ivett Miranda-Maldonado Hugo Mauricio Vazquez-Garcia Lezmes Dionicio Valdez-Chapa Mauro Antonio-Macedo Michael Dean Hugo A. Barrera-Saldaña 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 BRCA1 and BRCA2 genes. The aim of this study was to describe BRCA1 and BRCA2 gene variants in Mexican patients with ovarian cancer. Sequencing of BRCA1 and BRCA2 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 BRCA1, of which 50 (66%) had not been previously reported. Furthermore, 104 polymorphic variants were found in BRCA2, 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 BRCA1 and BRCA2, respectively. We have described the genetic variants in BRCA1 and BRCA2 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.
Electronic ISSN:
2073-4425
Topics:
Biology
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