| Autor: |
Delgado-Balderas JR; Biochemistry and Molecular Medicine Department, School of Medicine, Universidad Autonoma de Nuevo Leon, Monterrey 64460, Mexico. jesus.delgadobl@uanl.edu.mx., Garza-Rodriguez ML; Biochemistry and Molecular Medicine Department, School of Medicine, Universidad Autonoma de Nuevo Leon, Monterrey 64460, Mexico. maria.garzarg@uanl.edu.mx., Gomez-Macias GS; Pathology Department, Hospital Universitario 'Dr. Jose Eleuterio-Gonzalez', Universidad Autonoma de Nuevo Leon, Monterrey 64460, Mexico. bpositivo66@hotmail.com., Barboza-Quintana A; Pathology Department, San Jose Tec Hospital, Monterrey 64718, Mexico. alvaro.barbosa@medicos.tecsalud.mx., Barboza-Quintana O; Pathology Department, Hospital Universitario 'Dr. Jose Eleuterio-Gonzalez', Universidad Autonoma de Nuevo Leon, Monterrey 64460, Mexico. oralia.barbozaqnt@uanl.edu.mx., Cerda-Flores RM; School of Nursing, Universidad Autonoma de Nuevo Leon, Monterrey 64460, Mexico. ricardocerda_mx@yahoo.com.mx., Miranda-Maldonado I; Pathology Department, Hospital Universitario 'Dr. Jose Eleuterio-Gonzalez', Universidad Autonoma de Nuevo Leon, Monterrey 64460, Mexico. imiranda77@hotmail.com., Vazquez-Garcia HM; Obstetrics and Gynecology Department, Christus Muguerza Hospital, Monterrey 64060, Mexico. drhugovazquezgarcia@gmail.com., Valdez-Chapa LD; Gynecology and Obstetrics Department, Hospital Universitario 'Dr. Jose Eleuterio Gonzalez', Monterrey 64460, Mexico. lezmez@prodigy.net.mx., Antonio-Macedo M; Gynecology and Obstetrics Department, Hospital Universitario 'Dr. Jose Eleuterio Gonzalez', Monterrey 64460, Mexico. mauro8207@hotmail.com., Dean M; Laboratory of Translational Genomics, DCEG, National Cancer Institute, Bethesda, MD 20892, USA. deanm@mail.nih.gov., Barrera-Saldaña HA; Biochemistry and Molecular Medicine Department, School of Medicine, Universidad Autonoma de Nuevo Leon, Monterrey 64460, Mexico. habarrera@gmail.com.; Vitagenesis SA de CV, Monterrey 64630, Mexico. habarrera@gmail.com. |
| Abstrakt: |
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. |
