Liquid Biopsies for Monitoring Temporal Genomic Heterogeneity in Breast and Colon Cancers

Venesio, Tiziana; Siravegna, Giulia; Bardelli, Alberto; Sapino, Anna

doi:10.1159/000473882

Cited by 34 publications

(23 citation statements)

References 105 publications

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“…They have proved to be highly sensitive and specific, with a high degree of concordance with tissue biopsy, they can identify both clonal and subclonal mutations, and they can detect resistance substantially earlier than radiographic imaging, which could permit earlier intervention. 10,11 The first liquid biopsy-based companion diagnostic test was approved by the US Food and Drug Administration in 2016, for the detection of EGFR mutations associated with NSCLC.…”

Section: Fueling Resistancementioning

confidence: 99%

Tumor heterogeneity: a central foe in the war on cancer

Lartigue¹

2016

JCSO

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Section: Fueling Resistancementioning

confidence: 99%

Tumor heterogeneity: a central foe in the war on cancer

Lartigue¹

2016

JCSO

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“…Cancer is a spatial and temporal dynamic disease where differently evolving genetic clones are responsible for progression. In this landscape, the recognition of mechanisms responsible for tumor evolution remains a challenging task [1]. However, in recent years, there has been a notable increase in knowledge of cancer, accompanied by a very important technological development of highly sensitive molecular biology techniques which introduces us to the beginning of the application of precision medicine and particularly of precision oncology [2].…”

Section: Introductionmentioning

confidence: 99%

Liquid Biopsy as Novel Tool in Precision Medicine: Origins, Properties, Identification and Clinical Perspective of Cancer’s Biomarkers

et al. 2020

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In recent years, there has been an increase in knowledge of cancer, accompanied by a technological development that gives rise to medical oncology. An instrument that allows the implementation of individualized therapeutic strategies is the liquid biopsy. Currently, it is the most innovative methodology in medical oncology. Its high potential as a tool for screening and early detection, the possibility of assessing the patient’s condition after diagnosis and relapse, as well as the effectiveness of real-time treatments in different types of cancer. Liquid biopsy is capable of overcoming the limitations of tissue biopsies. The elements that compose the liquid biopsy are circulating tumor cells, circulating tumor nucleic acids, free of cells or contained in exosomes, microvesicle and platelets. Liquid biopsy studies are performed on various biofluids extracted in a non-invasive way, and they can be performed both from the blood and in urine, saliva or cerebrospinal fluid. The development of genotyping techniques, using the elements that make up liquid biopsy, make it possible to detect mutations, intertumoral and intratumoral heterogeneity, and provide molecular information on cancer for application in medical oncology in an individualized way in different types of tumors. Therefore, liquid biopsy has the potential to change the way medical oncology could predict the course of the disease.

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“…In addition, cancer is a heterogeneous disease that can include different subclones within the same primary tumor and between the primary tumor and metastatic lesions. This heterogeneity in tumors can lead to variations in tumor tissue sampling through biopsy [ 4 ].…”

Section: Introductionmentioning

confidence: 99%

TNER: a novel background error suppression method for mutation detection in circulating tumor DNA

et al. 2018

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BackgroundUltra-deep next-generation sequencing of circulating tumor DNA (ctDNA) holds great promise as a tool for the early detection of cancer and for monitoring disease progression and therapeutic responses. However, the low abundance of ctDNA in the bloodstream coupled with technical errors introduced during library construction and sequencing complicates mutation detection.ResultsTo achieve high accuracy of variant calling via better distinguishing low-frequency ctDNA mutations from background errors, we introduce TNER (Tri-Nucleotide Error Reducer), a novel background error suppression method that provides a robust estimation of background noise to reduce sequencing errors. The results on both simulated data and real data from healthy subjects demonstrate that the proposed algorithm consistently outperforms a current, state-of-the-art, position-specific error polishing model, particularly when the sample size of healthy subjects is small.ConclusionsTNER significantly enhances the specificity of downstream ctDNA mutation detection without sacrificing sensitivity. The tool is publicly available at https://github.com/ctDNA/TNER.Electronic supplementary materialThe online version of this article (10.1186/s12859-018-2428-3) contains supplementary material, which is available to authorized users.

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Liquid Biopsies for Monitoring Temporal Genomic Heterogeneity in Breast and Colon Cancers

Cited by 34 publications

References 105 publications

Tumor heterogeneity: a central foe in the war on cancer

Tumor heterogeneity: a central foe in the war on cancer

Liquid Biopsy as Novel Tool in Precision Medicine: Origins, Properties, Identification and Clinical Perspective of Cancer’s Biomarkers

TNER: a novel background error suppression method for mutation detection in circulating tumor DNA

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