Description of Genetic Variants in BRCA Genes in Mexican Patients with Ovarian Cancer: A First Step towards Implementing Personalized Medicine

Delgado Balderas, Jesús Rolando y Garza Rodríguez, María Lourdes y Gómez Macías, Gabriela Sofía y Barboza Quintana, Álvaro y Barboza Quintana, Oralia y Cerda Flores, Ricardo Martín y Miranda Maldonado, Ivett y Vazquez Garcia, Hugo Mauricio y Valdez Chapa, Lezmes Dionicio y Antonio Macedo, Mauro y Dean, Michael y Barrera Saldaña, Hugo Alberto (2018) Description of Genetic Variants in BRCA Genes in Mexican Patients with Ovarian Cancer: A First Step towards Implementing Personalized Medicine. Genes, 9 (7). pp. 1-10. ISSN 2073-4425

[img]
Vista previa
Texto
94.pdf - Versión Publicada
Available under License Creative Commons Attribution Non-commercial No Derivatives.

Download (1MB) | Vista previa
URL o página oficial: http://doi.org/10.3390/genes9070349

Resumen

Abstract 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. Keywords: BRCA; ovarian cancer; personalized therapy; sequencing

Tipo de elemento: Article
Materias: Q Ciencia > QH Historia Natural, Biología
Divisiones: Medicina
Usuario depositante: Lic. Josimar Pulido
Creadores:
CreadorEmailORCID
Delgado Balderas, Jesús RolandoNO ESPECIFICADONO ESPECIFICADO
Garza Rodríguez, María LourdesNO ESPECIFICADONO ESPECIFICADO
Gómez Macías, Gabriela SofíaNO ESPECIFICADONO ESPECIFICADO
Barboza Quintana, ÁlvaroNO ESPECIFICADONO ESPECIFICADO
Barboza Quintana, OraliaNO ESPECIFICADONO ESPECIFICADO
Cerda Flores, Ricardo MartínNO ESPECIFICADONO ESPECIFICADO
Miranda Maldonado, IvettNO ESPECIFICADONO ESPECIFICADO
Vazquez Garcia, Hugo MauricioNO ESPECIFICADONO ESPECIFICADO
Valdez Chapa, Lezmes DionicioNO ESPECIFICADONO ESPECIFICADO
Antonio Macedo, MauroNO ESPECIFICADONO ESPECIFICADO
Dean, MichaelNO ESPECIFICADONO ESPECIFICADO
Barrera Saldaña, Hugo AlbertoNO ESPECIFICADONO ESPECIFICADO
Fecha del depósito: 25 Jun 2020 11:18
Última modificación: 23 Mar 2021 16:35
URI: http://eprints.uanl.mx/id/eprint/16179

Actions (login required)

Ver elemento Ver elemento

Downloads

Downloads per month over past year