Role of ctDNA in Breast Cancer

Sant, Marta; Bernat-Peguera, Adrià; Felip, E.; Vila, Mireia Margelí

doi:10.3390/cancers14020310

Cited by 56 publications

(32 citation statements)

References 88 publications

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“…Several components of the tumor can be analyzed with liquid biopsy samples, such as circulating tumor DNA (ctDNA), circulating tumor cells (CTCs) and tumor-educated platelets (TEPs) and exosomes. While TEPs and exosomes are currently studied primarily as diagnostic tools, ctDNA and CTCs show promising results in assessing response to treatment and predicting resistance in early breast cancer [ 137 , 138 , 139 , 140 , 141 , 142 ].…”

Section: Predictive Biomarkers Under Investigationmentioning

confidence: 99%

Predictive Biomarkers of Response to Neoadjuvant Chemotherapy in Breast Cancer: Current and Future Perspectives for Precision Medicine

Derouane

Marcke

Berlière

et al. 2022

Cancers

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Pathological complete response (pCR) after neoadjuvant chemotherapy in patients with early breast cancer is correlated with better survival. Meanwhile, an expanding arsenal of post-neoadjuvant treatment strategies have proven beneficial in the absence of pCR, leading to an increased use of neoadjuvant systemic therapy in patients with early breast cancer and the search for predictive biomarkers of response. The better prediction of response to neoadjuvant chemotherapy could enable the escalation or de-escalation of neoadjuvant treatment strategies, with the ultimate goal of improving the clinical management of early breast cancer. Clinico-pathological prognostic factors are currently used to estimate the potential benefit of neoadjuvant systemic treatment but are not accurate enough to allow for personalized response prediction. Other factors have recently been proposed but are not yet implementable in daily clinical practice or remain of limited utility due to the intertumoral heterogeneity of breast cancer. In this review, we describe the current knowledge about predictive factors for response to neoadjuvant chemotherapy in breast cancer patients and highlight the future perspectives that could lead to the better prediction of response, focusing on the current biomarkers used for clinical decision making and the different gene signatures that have recently been proposed for patient stratification and the prediction of response to therapies. We also discuss the intratumoral phenotypic heterogeneity in breast cancers as well as the emerging techniques and relevant pre-clinical models that could integrate this biological factor currently limiting the reliable prediction of response to neoadjuvant systemic therapy.

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Section: Predictive Biomarkers Under Investigationmentioning

confidence: 99%

Predictive Biomarkers of Response to Neoadjuvant Chemotherapy in Breast Cancer: Current and Future Perspectives for Precision Medicine

Derouane

Marcke

Berlière

et al. 2022

Cancers

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“…As demonstrated by these studies, ctDNA profiling offers a broad spectrum of applications in BCa. In addition to high detection rate in metastatic patients, ctDNA represents an attractive, non-invasive tool to monitor tumor evolution and treatment response, and assess prognosis [ 37 ]. Serial monitoring of ctDNA could help to predict relapse in previously treated patients and to select the best therapy in individualized treatment which will help to improve the management of cancer patients.…”

Section: The Clinical Value Of Circulating Tumor Dna In Breast Cancermentioning

confidence: 99%

The Clinical Utility of Droplet Digital PCR for Profiling Circulating Tumor DNA in Breast Cancer Patients

2022

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Breast cancer is the most common cancer affecting women worldwide. It is a malignant and heterogeneous disease with distinct molecular subtypes, which has prognostic and predictive implications. Circulating tumor DNA (ctDNA), cell-free fragmented tumor-derived DNA in blood plasma, is an invaluable source of specific cancer-associated mutations and holds great promise for the development of minimally invasive diagnostic tests. Furthermore, serial monitoring of ctDNA over the course of systemic and targeted therapies not only allows unparalleled efficacy assessments but also enables the identification of patients who are at risk of progression or recurrence. Droplet digital PCR (ddPCR) is a powerful technique for the detection and monitoring of ctDNA. Due to its relatively high accuracy, sensitivity, reproducibility, and capacity for absolute quantification, it is increasingly used as a tool for managing cancer patients through liquid biopsies. In this review paper, we gauge the clinical utility of ddPCR as a technique for mutational profiling in breast cancer patients and focus on HER2, PIK3CA, ESR1, and TP53, which represent the most frequently mutated genes in breast cancers.

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“…The major tumor component that is usually extracted for the identification of tumor characteristics is circulating tumor cells (CTCs) ( 71 ). Except for the CTCs, cell-free DNA (cfDNA), ctDNA ( 72 , 73 ), and c-miRNAs among other circulating non-coding RNAs ( 74 ) can be used as LB markers ( 13 ). The advancement of NGS and digital genomic approaches made biomarkers such as c-RNAs, circulating extracellular vesicles, tumor-educated platelets, proteins, etc.…”

Section: Liquid Biopsy In Breast Cancermentioning

confidence: 99%

Potential utility of miRNAs for liquid biopsy in breast cancer

et al. 2022

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Breast cancer (BC) remains the most prevalent malignancy due to its incidence rate, recurrence, and metastasis in women. Conventional strategies of cancer detection– mammography and tissue biopsy lack the capacity to detect the complete cancer genomic landscape. Besides, they often give false- positive or negative results. The presence of this and other disadvantages such as invasiveness, high-cost, and side effects necessitates developing new strategies to overcome the BC burden. Liquid biopsy (LB) has been brought to the fore owing to its early detection, screening, prognosis, simplicity of the technique, and efficient monitoring. Remarkably, microRNAs (miRNAs)– gene expression regulators seem to play a major role as biomarkers detected in the samples of LB. Particularly, miR-21 and miR-155 among other possible candidates seem to serve as favorable biomarkers in the diagnosis and prognosis of BC. Hence, this review will assess the potential utility of miRNAs as biomarkers and will highlight certain promising candidates for the LB approach in the diagnosis and management of BC that may optimize the patient outcome.

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Role of ctDNA in Breast Cancer

Cited by 56 publications

References 88 publications

Predictive Biomarkers of Response to Neoadjuvant Chemotherapy in Breast Cancer: Current and Future Perspectives for Precision Medicine

Predictive Biomarkers of Response to Neoadjuvant Chemotherapy in Breast Cancer: Current and Future Perspectives for Precision Medicine

The Clinical Utility of Droplet Digital PCR for Profiling Circulating Tumor DNA in Breast Cancer Patients

Potential utility of miRNAs for liquid biopsy in breast cancer

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