La Revolución de la Secuenciación de Nueva Generación en el Cáncer de Mama: Hacia una Oncología de Precisión Real
DOI:
https://doi.org/10.26871/ceus.v8i2.328Keywords:
Breast Cancers, High-Throughput Nucleotide Sequencing, Precision MedicineAbstract
La secuenciación de nueva generación (NGS) ha transformado el abordaje del cáncer de mama al permitir la caracterización molecular detallada de los tumores y la personalización de los tratamientos. Esta tecnología identifica alteraciones genéticas accionables, facilita la selección de terapias dirigidas y mejora los resultados clínicos, especialmente en enfermedad metastásica. Además, el análisis de ADN tumoral circulante ofrece oportunidades para el monitoreo de la enfermedad y la detección temprana de recaídas. No obstante, persisten desafíos relacionados con la interpretación de variantes de significado incierto, los costos, el acceso y la necesidad de equipos multidisciplinarios para una adecuada aplicación clínica.
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1. Siddig et al., “Next-generation sequencing in breast cancer: current clinical applications and future directions,” Annals of Medicine, vol. 57, no. 1, pp. 2569989–2569989, Oct. 2025, doi: 10.1080/07853890.2025.2569989.
2. R. J. Walsh et al., “Molecular profiling of metastatic breast cancer and target-based therapeutic matching in an Asian tertiary phase I oncology unit,” Frontiers in Oncology, May 2024, doi: 10.3389/fonc.2024.1342346.
3. Zuhdi NFM, Siddig A, Nafi SNM, Salleh MSM, Yahya MM, Zain WZW, et al. Next-generation sequencing in breast cancer: current clinical applications and future directions. Annals Of Medicine [Internet]. 6 de octubre de 2025;57(1):2569989. Disponible en: https://doi.org/10.1080/07853890.2025.2569989
4. R. Falcone et al., “Molecular Profile and Matched Targeted Therapy for Advanced Breast Cancer Patients,” Current Oncology, vol. 30, no. 2, pp. 2501–2509, Feb. 2023, doi: 10.3390/curroncol30020191.
5. Irelli et al., “Role of the Molecular Tumor Board for the Personalized Treatment of Patients with Metastatic Breast Cancer: A Focus on the State of the Art in Italy,” Cancers, vol. 15, no. 6, pp. 1727–1727, Mar. 2023, doi: 10.3390/cancers15061727.
6. N. Dandamudi, “The Role of Next Generation Sequencing in the Breast Cancer Prognosis,” vol. 7, no. 2, Jan. 2022, doi: 10.47275/2332-4864-125.
7. R. A. Lourenco et al., “BRCA1 VUS: A functional analysis to differentiate pathogenic from benign variants identified in clinical diagnostic panels for breast cancer,” Molecular Medicine Reports, vol. 28, no. 1, May 2023, doi: 10.3892/mmr.2023.13023.
8. D. Kumar, N. Choudhary, and S. B. Kondaveeti, “Breast cancer frontiers: mapping molecular signals, intelligent diagnostics, and adaptive therapies,” Discover Oncology, Jan. 2026, doi: 10.1007/s12672-026-04453-y.
9. H. Kawaji et al., “Comprehensive molecular profiling broadens treatment options for breast cancer patients.,” Cancer Medicine, vol. 10, no. 2, pp. 529–539, Jan. 2021, doi: 10.1002/CAM4.3619.
10. Saura et al., “Early-Stage Breast Cancer Detection in Breast Milk.,” Cancer discovery, 2023, doi: 10.1158/2159-8290.CD-22-1340.
11. Lee, Ni, Beretov, Wasinger, Graham, and Li, “Recent advances of small extracellular vesicle biomarkers in breast cancer diagnosis and prognosis.,” Molecular cancer, 2023, doi: 10.1186/s12943-023-01741-x.
12. Shatsky R, Parker BA, Bui NQ, Helsten T, Schwab RB, Boles SG, et al. Next-Generation Sequencing of Tissue and Circulating Tumor DNA: The UC San Diego Moores Center for Personalized Cancer Therapy Experience with Breast Malignancies. Molecular Cancer Therapeutics [Internet]. 29 de marzo de 2019;18(5):1001-11. Disponible en: https://doi.org/10.1158/1535-7163.mct-17-103
13. F. R. Rodepeter et al., “[Clinically relevant molecular pathological diagnostics in breast cancer].,” Die Pathologie, vol. 44, no. 1, pp. 39–49, Jan. 2023, doi: 10.1007/s00292-022-01175-0.
14. B. Walter et al., “Sequencing for an interdisciplinary molecular tumor board in patients with advanced breast cancer: experiences from a case series,” Oncotarget, vol. 11, no. 35, pp. 3279–3285, Sept. 2020, doi: 10.18632/ONCOTARGET.27704.
15. J. S. Lee et al., “Genomic Markers of CDK 4/6 Inhibitor Resistance in Hormone Receptor Positive Metastatic Breast Cancer,” Cancers, vol. 14, no. 13, pp. 3159–3159, June 2022, doi: 10.3390/cancers14133159.
16. E. Papadopoulou et al., “Abstract P5-13-01: Comprehensive tumor analysis by NGS in metastatic breast cancer patients,” Cancer Research, vol. 82, no. 4_Supplement, pp. P5-01, Feb. 2022, doi: 10.1158/1538-7445.sabcs21-p5-13-01.
17. Horgan et al., “Identifying the Steps Required to Effectively Implement Next-Generation Sequencing in Oncology at a National Level in Europe,” Journal of Personalized Medicine, vol. 12, no. 1, pp. 72–72, Jan. 2022, doi: 10.3390/jpm12010072.
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