Role of ctDNA in Breast Cancer

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...

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Autores: Sant, Marta, Bernat-Peguera, Adrià|||0000-0002-3108-0571, Felip, Eudald|||0000-0002-3812-1313, Margelí, Mireia|||0000-0003-3594-4530
Tipo de recurso: artículo
Fecha de publicación:2022
País:España
Institución:Universitat Autònoma de Barcelona
Repositorio:Dipòsit Digital de Documents de la UAB
Idioma:inglés
OAI Identifier:oai:ddd.uab.cat:252212
Acceso en línea:https://ddd.uab.cat/record/252212
https://dx.doi.org/urn:doi:10.3390/cancers14020310
Access Level:acceso abierto
Palabra clave:CtDNA
Breast cancer
Personalized medicine
Liquid biopsy
Cancer diagnosis
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spelling Role of ctDNA in Breast CancerSant, MartaBernat-Peguera, Adrià|||0000-0002-3108-0571Felip, Eudald|||0000-0002-3812-1313Margelí, Mireia|||0000-0003-3594-4530CtDNABreast cancerPersonalized medicineLiquid biopsyCancer diagnosisCirculating 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.Universitat Autònoma de Barcelona 22022-01-0120222022-01-01Articlehttp://purl.org/coar/resource_type/c_6501VoRhttp://purl.org/coar/version/c_970fb48d4fbd8a85info:eu-repo/semantics/articleapplication/pdfhttps://ddd.uab.cat/record/252212https://dx.doi.org/urn:doi:10.3390/cancers14020310reponame:Dipòsit Digital de Documents de la UABinstname:Universitat Autònoma de BarcelonaInglésengInstituto de Salud Carlos III https://doi.org/10.13039/501100004587 CM20/00027open accesshttp://purl.org/coar/access_right/c_abf2Aquest 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.https://creativecommons.org/licenses/by/4.0/info:eu-repo/semantics/openAccessoai:ddd.uab.cat:2522122026-06-06T12:50:31Z
dc.title.none.fl_str_mv Role of ctDNA in Breast Cancer
title Role of ctDNA in Breast Cancer
spellingShingle Role of ctDNA in Breast Cancer
Sant, Marta
CtDNA
Breast cancer
Personalized medicine
Liquid biopsy
Cancer diagnosis
title_short Role of ctDNA in Breast Cancer
title_full Role of ctDNA in Breast Cancer
title_fullStr Role of ctDNA in Breast Cancer
title_full_unstemmed Role of ctDNA in Breast Cancer
title_sort Role of ctDNA in Breast Cancer
dc.creator.none.fl_str_mv Sant, Marta
Bernat-Peguera, Adrià|||0000-0002-3108-0571
Felip, Eudald|||0000-0002-3812-1313
Margelí, Mireia|||0000-0003-3594-4530
author Sant, Marta
author_facet Sant, Marta
Bernat-Peguera, Adrià|||0000-0002-3108-0571
Felip, Eudald|||0000-0002-3812-1313
Margelí, Mireia|||0000-0003-3594-4530
author_role author
author2 Bernat-Peguera, Adrià|||0000-0002-3108-0571
Felip, Eudald|||0000-0002-3812-1313
Margelí, Mireia|||0000-0003-3594-4530
author2_role author
author
author
dc.contributor.none.fl_str_mv Universitat Autònoma de Barcelona
dc.subject.none.fl_str_mv CtDNA
Breast cancer
Personalized medicine
Liquid biopsy
Cancer diagnosis
topic CtDNA
Breast cancer
Personalized medicine
Liquid biopsy
Cancer diagnosis
description 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.
publishDate 2022
dc.date.none.fl_str_mv 2
2022-01-01
2022
2022-01-01
dc.type.none.fl_str_mv Article
http://purl.org/coar/resource_type/c_6501
VoR
http://purl.org/coar/version/c_970fb48d4fbd8a85
dc.type.openaire.fl_str_mv info:eu-repo/semantics/article
format article
dc.identifier.none.fl_str_mv https://ddd.uab.cat/record/252212
https://dx.doi.org/urn:doi:10.3390/cancers14020310
url https://ddd.uab.cat/record/252212
https://dx.doi.org/urn:doi:10.3390/cancers14020310
dc.language.none.fl_str_mv Inglés
eng
language_invalid_str_mv Inglés
language eng
dc.relation.none.fl_str_mv Instituto de Salud Carlos III https://doi.org/10.13039/501100004587 CM20/00027
dc.rights.none.fl_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
dc.rights.openaire.fl_str_mv info:eu-repo/semantics/openAccess
rights_invalid_str_mv open access
http://purl.org/coar/access_right/c_abf2
https://creativecommons.org/licenses/by/4.0/
eu_rights_str_mv openAccess
dc.format.none.fl_str_mv application/pdf
dc.source.none.fl_str_mv reponame:Dipòsit Digital de Documents de la UAB
instname:Universitat Autònoma de Barcelona
instname_str Universitat Autònoma de Barcelona
reponame_str Dipòsit Digital de Documents de la UAB
collection Dipòsit Digital de Documents de la UAB
repository.name.fl_str_mv
repository.mail.fl_str_mv
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