Clinical applications of circulating tumour DNA

BJMO - volume 15, issue 7, november 2021

G. Rossi MD, M. Ignatiadis MD, PhD


Circulating tumour DNA (ctDNA) analysis has the potential to advance precision medicine. The epidermal growth factor receptor (EGFR) and phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (PIK3CA) single gene assays in plasma cell free DNA are being used for selecting patients with metastatic lung and breast cancer for treatment with EGFR and PIK3CA inhibitors, respectively. More recently, multigene assays have been approved by the Food and Drug Administration as companion diagnostics for the selection of patients that may benefit from specific targeted therapies. Moreover, ctDNA may allow a noninvasive monitoring of tumour genotype and treatment response. Potential future applications include systemic treatment of patients with ctDNA relapse and early cancer detection.

(BELG J MED ONCOL 2021;15(7):345-50)

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Clinical management of first-line advanced triple-negative breast cancer patients

BJMO - volume 14, issue 7, november 2020

M. Rediti MD, K. Punie MD, E. de Azambuja MD, PhD, E. Naert MD, D. Taylor MD, FP. Duhoux MD, PhD, H. Denys MD, PhD, A. Awada MD, PhD, H. Wildiers MD, PhD, M. Ignatiadis MD, PhD


Chemotherapy has represented the main treatment option for patients with advanced triple-negative breast cancer for a long time. However, due to our better understanding of tumour biology, recent clinical trials led to a change in the treatment paradigm of this disease, identifying clinically relevant subgroups with different therapeutic options. Both clinical and biological factors have become relevant and need to be considered in the treatment decision algorithm of this heterogeneous disease.

(BELG J MED ONCOL 2020;14(7):333-38)

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Liquid biopsy in breast cancer: challenges and opportunities

BJMO - volume 11, issue 8, december 2017

C. Maggi MD, M. Lambertini , M. Ignatiadis MD, PhD


Despite the use of effective loco-regional and systemic treatment approaches, many women with early-stage breast cancer still relapse and die of their disease. The early detection of small micrometastatic lesions that are currently undetectable by imaging procedures may potentially increase the chances to prevent the development of incurable metastatic disease. In patients with advanced disease, biological features of the tumour can change between the primary lesion and the metastases. However, in routine clinical practice, due to the difficulty of performing a biopsy of the recurrent lesions, treatment choices are often based on the biological features of the primary tumour. Moreover, one sample from a single metastatic lesion at a specific time point cannot capture the spatial and temporal intra-tumour heterogeneity of metastatic disease. Circulating-based biomarkers (i.e. ‘liquid biopsy’) such as circulating tumour cells and circulating tumour DNA are non-invasive biomarkers that have been developed to overcome the limitations of currently available tools in both the early and metastatic settings. In this manuscript, we review the current state of the art on circulating tumour cells and circulating tumour DNA in breast cancer focusing on their potential clinical utility as prognostic biomarkers, as tools to detect minimal residual disease, and to guide and monitor response and resistance to administered anticancer therapies.

(BELG J MED ONCOL 2017;11(8):357–363)

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