Liquid biopsy: Monitoring cancer-genetics in the blood

Emily Crowley, Federica Di Nicolantonio, Fotios Loupakis, Alberto Bardelli

Research output: Contribution to journalArticle

703 Citations (Scopus)

Abstract

Cancer is associated with mutated genes, and analysis of tumour-linked genetic alterations is increasingly used for diagnostic, prognostic and treatment purposes. The genetic profile of solid tumours is currently obtained from surgical or biopsy specimens; however, the latter procedure cannot always be performed routinely owing to its invasive nature. Information acquired from a single biopsy provides a spatially and temporally limited snap-shot of a tumour and might fail to reflect its heterogeneity. Tumour cells release circulating free DNA (cfDNA) into the blood, but the majority of circulating DNA is often not of cancerous origin, and detection of cancer-associated alleles in the blood has long been impossible to achieve. Technological advances have overcome these restrictions, making it possible to identify both genetic and epigenetic aberrations. A liquid biopsy, or blood sample, can provide the genetic landscape of all cancerous lesions (primary and metastases) as well as offering the opportunity to systematically track genomic evolution. This Review will explore how tumour-associated mutations detectable in the blood can be used in the clinic after diagnosis, including the assessment of prognosis, early detection of disease recurrence, and as surrogates for traditional biopsies with the purpose of predicting response to treatments and the development of acquired resistance.

Original languageEnglish
Pages (from-to)472-484
Number of pages13
JournalNature Reviews Clinical Oncology
Volume10
Issue number8
DOIs
Publication statusPublished - Aug 2013

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Biopsy
Neoplasms
Circulating Neoplastic Cells
DNA
Epigenomics
Early Diagnosis
Alleles
Neoplasm Metastasis
Recurrence
Mutation
Genes

ASJC Scopus subject areas

  • Oncology

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Liquid biopsy : Monitoring cancer-genetics in the blood. / Crowley, Emily; Di Nicolantonio, Federica; Loupakis, Fotios; Bardelli, Alberto.

In: Nature Reviews Clinical Oncology, Vol. 10, No. 8, 08.2013, p. 472-484.

Research output: Contribution to journalArticle

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