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. 2020 b ). Moreover, a recent study comparing primary tumor biopsies and cfDNA samples acquired later at the time of mCRPC also confirmed that BRCA2, ATM and CDK12 defects are already present in the primary tumors of these patients ( Warner et al
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Department of Pathology and laboratory medicine, Memorial Sloan Kettering Cancer Center, New York, New York, USA
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Weill Medical College of Cornell University, New York, New York, USA
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Weill Medical College of Cornell University, New York, New York, USA
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well-differentiated tumors, while RB1 loss is exclusive to poorly differentiated tumors, and altered TP53 is seen across the spectrum of NENs. Tumor-derived cell free DNA (cfDNA) detection in plasma provides the opportunity to potentially conduct
Graduate Program in Microbiology, Immunology, and Cancer Biology, University of Minnesota, Minneapolis, Minnesota, USA
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Carbone Cancer Center, University of Wisconsin-Madison, Madison, Wisconsin, USA
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Carbone Cancer Center, University of Wisconsin-Madison, Madison, Wisconsin, USA
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Carbone Cancer Center, University of Wisconsin-Madison, Madison, Wisconsin, USA
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Department of Laboratory Medicine and Pathology, University of Minnesota, Minneapolis, Minnesota, USA
Department of Urology, University of Minnesota, Minneapolis, Minnesota, USA
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tumors by identifying tumor-associated copy number alterations, mutations, and structural variants in plasma cell-free DNA (cfDNA). Targeted DNA-seq profiling of cfDNA and paired tissue biopsies in CRPC patients have shown that genomic alterations in
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-invasive biomarkers have an additional advantage in more accurately reflecting composite tumor burden and molecular intra-patient heterogeneity. Especially in the setting of heterogeneous diseases such as metastatic prostate cancer, plasma cell-free DNA (cfDNA
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Department of Clinical Medicine, Faculty of Health and Clinical Sciences, University of Copenhagen, Copenhagen, Denmark
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Department of Clinical Medicine, Faculty of Health and Clinical Sciences, University of Copenhagen, Copenhagen, Denmark
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released from the primary tumors such as circulating tumor cells (CTCs) or cell-free DNA (cfDNA) ( Fig. 1 ). Several techniques have been developed to detect liquid biopsies ( Palmirotta et al. 2018 , Lone et al. 2022 ). The increased release of cfDNA
Gastroenterology and Technologies for Health, Centre de Cancérologie de Lyon, INSERM U1052-CNRS UMR5286, Centre Léon Bérard, Lyon, France
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Service Central d’Anatomie et Cytologie Pathologiques, Hospices Civils de Lyon, Hôpital Edouard Herriot, Lyon, France
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Gastroenterology and Technologies for Health, Centre de Cancérologie de Lyon, INSERM U1052-CNRS UMR5286, Centre Léon Bérard, Lyon, France
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. 2021 ). In patients with cancer, the circulating tumour DNA (ctDNA) originates from tumour cells and represents a small fraction of circulating cell-free DNA (cfDNA). It can reflect the tumour mutational burden and is correlated with disease course in
University College Cork, Medicine, Cork, Ireland
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Joan and Sanford I Weill Medical College of Cornell University, Medicine, New York, New York, USA
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in BOLERO-2 was independent of PIK3CA mutational status as well as alterations of other closely related genes ( PTEN ) and pathways ( Hortobagyi et al. 2015 ). Subsequent analysis of cell-free DNA (cfDNA) extracted from archival plasma samples
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The Institute of Cancer Research, Royal Marsden Hospital, Breakthrough Breast Cancer Research Centre, 237 Fulham Road, London SW3 6JB, UK
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to meet the expectations is the identification of specific biomarkers on the CTCs, e.g. HER2 ( Fehm et al . 2005 ). Another possible approach to improve simplifying breast cancer management is the study of circulating cell-free DNA (cfDNA). This may
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UCL Cancer Institute, UCL, London, UK
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-specific multi-gene transcripts (NET-test) ( Modlin et al. 2014 ), cfDNA and CTCs ( Khan et al. 2016 ), but further work is required to prospectively validate these markers before they can be used to select patients for chemotherapy ( Modlin et al. 2014
CNRS UMR7275, Valbonne, France
NEOGENEX CNRS International Associated Laboratory, Valbonne, France
Institut de Pharmacologie Moléculaire et Cellulaire, Valbonne, France
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exosome miR-483-5p importance in metastatic ACC. Circulating cell-free DNA (cfDNA) and cell-free tumor DNA (ctDNA) Finally, the liquid biopsy can also provide circulating cfDNA, derived from non-tumoral and tumoral cells (ctDNA). The exact