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Article

Genetic alterations of triple negative breast cancer (TNBC) in women from Northeastern Mexico

  • Authors:
    • Grecia I. Uscanga‑Perales
    • Sandra K. Santuario‑Facio
    • Celia N. Sanchez‑Dominguez
    • Servando Cardona‑Huerta
    • Gerardo E. Muñoz‑Maldonado
    • Pablo Ruiz‑Flores
    • Jose R. Barcenas‑Walls
    • Luis E. Osuna‑Rosales
    • Augusto Rojas‑Martinez
    • Juan Francisco Gonzalez‑Guerrero
    • Javier Valero‑Gomez
    • Gabriela S. Gomez‑Macias
    • Alvaro Barbosa‑Quintana
    • Oralia Barboza‑Quintana
    • Raquel Garza‑Guajardo
    • Rocio Ortiz‑Lopez
  • View Affiliations / Copyright

    Affiliations: Centro de Investigación y Desarrollo en Ciencias de la Salud, Universidad Autonoma de Nuevo Leon, Monterrey, Nuevo Leon 66460, Mexico, Escuela de Medicina y Ciencias de la Salud, Tecnologico de Monterrey, Monterrey, Nuevo Leon 64710, Mexico, Departamento de Bioquimica y Medicina Molecular, Facultad de Medicina, Universidad Autonoma de Nuevo Leon, Monterrey, Nuevo Leon 66460, Mexico, Centro de Cancer de Mama, Hospital San Jose, Tecnologico de Monterrey, Monterrey, Nuevo Leon 64710, Mexico, Servicio de Cirugia General, Hospital Universitario Dr. Jose Eleuterio Gonzalez, Universidad Autonoma de Nuevo Leon, Monterrey, Nuevo Leon 66460, Mexico, Departamento de Medicina Molecular, Facultad de Medicina, Universidad Autonoma de Coahuila, Torreon, Coahuila 27000, Mexico, Servicio de Oncologia, Centro Universitario Contra el Cancer, Hospital Universitario Dr. Jose Eleuterio Gonzalez, Universidad Autonoma de Nuevo Leon, Monterrey, Nuevo Leon 66460, Mexico, Servicio de Patología, Hospital San Jose, Tecnologico de Monterrey, Hospital San Jose, Monterrey, Nuevo Leon 64710, Mexico, Servicio de Anatomia Patologica y Citopatologia, Hospital Universitario Dr. Jose Eleuterio Gonzalez, Universidad Autonoma de Nuevo Leon, Monterrey, Nuevo Leon 66450, Mexico
  • Pages: 3581-3588
    |
    Published online on: January 29, 2019
       https://doi.org/10.3892/ol.2019.9984
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Abstract

Triple negative breast cancer (TNBC) is a subtype of breast cancer of heterogeneous nature that is negative for estrogen receptor (ER), progesterone receptor (PR) and growth factor human epidermal 2 (HER2) following immunohistochemical analysis. TNBC is frequently characterized by relapse and reduced survival. To date, there is no targeted therapy for this type of cancer. Chemotherapy, radiotherapy, and surgery remain as the standard treatments options. The lack of a target therapy and the heterogeneity of TNBC highlight the need to seek new therapeutic options. In this study, fresh tissue samples of TNBC were analyzed with a panel of 48 driver genes (212 amplicons) that are likely to be therapeutic targets. We found intron variants, missense, stop gained and splicing variants in TP53, PIK3CA and FLT3 genes. Interestingly, all the analyzed samples had at least two variants in the TP53 gene, one being a drug response variant, rs1042522, found in 94% of our samples. We also found seven additional variants not previously reported in the TP53 gene, to the best of our knowledge, with probable deleterious characteristics of the tumor suppressor gene. We found four genetic variants in the PIK3CA gene, including two missense variants. The rs2491231 variant in the FLT3 gene was identified in 84% (16/19) of the samples, which not yet reported for TNBC, to the best of our knowledge. In conclusion, genetic variants in TP53 were found in all TNBC tumors, with rs1042522 being the most frequent (94% of TNBC biopsies), which had not been previously reported in TNBC. Also, we found two missense variants in the PIK3CA gene. These results justify the validation of these genetic variants in a large cohort, as well as the extensive study of their impact on the prognosis and therapy management of TBNC.
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Copy and paste a formatted citation
Spandidos Publications style
Uscanga‑Perales GI, Santuario‑Facio SK, Sanchez‑Dominguez CN, Cardona‑Huerta S, Muñoz‑Maldonado GE, Ruiz‑Flores P, Barcenas‑Walls JR, Osuna‑Rosales LE, Rojas‑Martinez A, Gonzalez‑Guerrero JF, Gonzalez‑Guerrero JF, et al: Genetic alterations of triple negative breast cancer (TNBC) in women from Northeastern Mexico. Oncol Lett 17: 3581-3588, 2019.
APA
Uscanga‑Perales, G.I., Santuario‑Facio, S.K., Sanchez‑Dominguez, C.N., Cardona‑Huerta, S., Muñoz‑Maldonado, G.E., Ruiz‑Flores, P. ... Ortiz‑Lopez, R. (2019). Genetic alterations of triple negative breast cancer (TNBC) in women from Northeastern Mexico. Oncology Letters, 17, 3581-3588. https://doi.org/10.3892/ol.2019.9984
MLA
Uscanga‑Perales, G. I., Santuario‑Facio, S. K., Sanchez‑Dominguez, C. N., Cardona‑Huerta, S., Muñoz‑Maldonado, G. E., Ruiz‑Flores, P., Barcenas‑Walls, J. R., Osuna‑Rosales, L. E., Rojas‑Martinez, A., Gonzalez‑Guerrero, J. F., Valero‑Gomez, J., Gomez‑Macias, G. S., Barbosa‑Quintana, A., Barboza‑Quintana, O., Garza‑Guajardo, R., Ortiz‑Lopez, R."Genetic alterations of triple negative breast cancer (TNBC) in women from Northeastern Mexico". Oncology Letters 17.3 (2019): 3581-3588.
Chicago
Uscanga‑Perales, G. I., Santuario‑Facio, S. K., Sanchez‑Dominguez, C. N., Cardona‑Huerta, S., Muñoz‑Maldonado, G. E., Ruiz‑Flores, P., Barcenas‑Walls, J. R., Osuna‑Rosales, L. E., Rojas‑Martinez, A., Gonzalez‑Guerrero, J. F., Valero‑Gomez, J., Gomez‑Macias, G. S., Barbosa‑Quintana, A., Barboza‑Quintana, O., Garza‑Guajardo, R., Ortiz‑Lopez, R."Genetic alterations of triple negative breast cancer (TNBC) in women from Northeastern Mexico". Oncology Letters 17, no. 3 (2019): 3581-3588. https://doi.org/10.3892/ol.2019.9984
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x
Spandidos Publications style
Uscanga‑Perales GI, Santuario‑Facio SK, Sanchez‑Dominguez CN, Cardona‑Huerta S, Muñoz‑Maldonado GE, Ruiz‑Flores P, Barcenas‑Walls JR, Osuna‑Rosales LE, Rojas‑Martinez A, Gonzalez‑Guerrero JF, Gonzalez‑Guerrero JF, et al: Genetic alterations of triple negative breast cancer (TNBC) in women from Northeastern Mexico. Oncol Lett 17: 3581-3588, 2019.
APA
Uscanga‑Perales, G.I., Santuario‑Facio, S.K., Sanchez‑Dominguez, C.N., Cardona‑Huerta, S., Muñoz‑Maldonado, G.E., Ruiz‑Flores, P. ... Ortiz‑Lopez, R. (2019). Genetic alterations of triple negative breast cancer (TNBC) in women from Northeastern Mexico. Oncology Letters, 17, 3581-3588. https://doi.org/10.3892/ol.2019.9984
MLA
Uscanga‑Perales, G. I., Santuario‑Facio, S. K., Sanchez‑Dominguez, C. N., Cardona‑Huerta, S., Muñoz‑Maldonado, G. E., Ruiz‑Flores, P., Barcenas‑Walls, J. R., Osuna‑Rosales, L. E., Rojas‑Martinez, A., Gonzalez‑Guerrero, J. F., Valero‑Gomez, J., Gomez‑Macias, G. S., Barbosa‑Quintana, A., Barboza‑Quintana, O., Garza‑Guajardo, R., Ortiz‑Lopez, R."Genetic alterations of triple negative breast cancer (TNBC) in women from Northeastern Mexico". Oncology Letters 17.3 (2019): 3581-3588.
Chicago
Uscanga‑Perales, G. I., Santuario‑Facio, S. K., Sanchez‑Dominguez, C. N., Cardona‑Huerta, S., Muñoz‑Maldonado, G. E., Ruiz‑Flores, P., Barcenas‑Walls, J. R., Osuna‑Rosales, L. E., Rojas‑Martinez, A., Gonzalez‑Guerrero, J. F., Valero‑Gomez, J., Gomez‑Macias, G. S., Barbosa‑Quintana, A., Barboza‑Quintana, O., Garza‑Guajardo, R., Ortiz‑Lopez, R."Genetic alterations of triple negative breast cancer (TNBC) in women from Northeastern Mexico". Oncology Letters 17, no. 3 (2019): 3581-3588. https://doi.org/10.3892/ol.2019.9984
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