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

  • Published online on: January 29, 2019     https://doi.org/10.3892/ol.2019.9984
  • Pages: 3581-3588
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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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March-2019
Volume 17 Issue 3

Print ISSN: 1792-1074
Online ISSN:1792-1082

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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