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Role of ctDNA in Breast Cancer
Sant, Marta (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Bernat-Peguera, Adrià (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Felip, Eudald (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Margelí, Mireia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol)
Universitat Autònoma de Barcelona

Fecha: 2022
Resumen: Circulating tumor DNA is DNA released by the tumor into the bloodstream. In breast cancer, it is used mainly in research or in clinical trials, but it will likely be used in routine clinical practice once certain issues have been worked out and methods of analysis have been improved and standardized. Breast cancer classification and treatment selection are now based on analysis of the tumor but circulating tumor DNA carries many features of the original tumor and can be analyzed from a simple, non-invasive blood extraction. Here, we review its potential role in early breast cancer (for screening, diagnosis, detection of minimal residual disease after surgery, follow up, and treatment) and in metastatic breast cancer (for the detection of mutations, prognosis and treatment). Breast cancer is currently classified by immunohistochemistry. However, technological advances in the detection of circulating tumor DNA (ctDNA) have made new options available for diagnosis, classification, biological knowledge, and treatment selection. Breast cancer is a heterogeneous disease and ctDNA can accurately reflect this heterogeneity, allowing us to detect, monitor, and understand the evolution of the disease. Breast cancer patients have higher levels of circulating DNA than healthy subjects, and ctDNA can be used for different objectives at different timepoints of the disease, ranging from screening and early detection to monitoring for resistance mutations in advanced disease. In early breast cancer, ctDNA clearance has been associated with higher rates of complete pathological response after neoadjuvant treatment and with fewer recurrences after radical treatments. In metastatic disease, ctDNA can help select the optimal sequencing of treatments. In the future, thanks to new bioinformatics tools, the use of ctDNA in breast cancer will become more frequent, enhancing our knowledge of the biology of tumors. Moreover, deep learning algorithms may also be able to predict breast cancer evolution or treatment sensitivity. In the coming years, continued research and the improvement of liquid biopsy techniques will be key to the implementation of ctDNA analysis in routine clinical practice.
Ayudas: Instituto de Salud Carlos III CM20/00027
Derechos: Aquest document està subjecte a una llicència d'ús Creative Commons. Es permet la reproducció total o parcial, la distribució, la comunicació pública de l'obra i la creació d'obres derivades, fins i tot amb finalitats comercials, sempre i quan es reconegui l'autoria de l'obra original. Creative Commons
Lengua: Anglès
Documento: Article ; recerca ; Versió publicada
Materia: CtDNA ; Breast cancer ; Personalized medicine ; Liquid biopsy ; Cancer diagnosis
Publicado en: Cancers, Vol. 14 (january 2022) , ISSN 2072-6694

DOI: 10.3390/cancers14020310
PMID: 35053474


14 p, 563.7 KB

El registro aparece en las colecciones:
Documentos de investigación > Documentos de los grupos de investigación de la UAB > Centros y grupos de investigación (producción científica) > Ciencias de la salud y biociencias > Institut d'Investigació en Ciencies de la Salut Germans Trias i Pujol (IGTP)
Artículos > Artículos de investigación
Artículos > Artículos publicados

 Registro creado el 2022-02-07, última modificación el 2025-08-08



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