The evidence base for circulating tumour DNA blood-based biomarkers for the early detection of cancer: a systematic mapping review
Abstract Background The presence of circulating cell-free DNA from tumours in blood (ctDNA) is of major importance to those interested in early cancer detection, as well as to those wishing to monitor tumour progression or diagnose the presence of activating mutations to guide treatment. In 2014, th...
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doaj-7a35cf09cbe640bb9b47f4e69b40a6142020-11-24T21:48:04ZengBMCBMC Cancer1471-24072017-10-0117111710.1186/s12885-017-3693-7The evidence base for circulating tumour DNA blood-based biomarkers for the early detection of cancer: a systematic mapping reviewIan A. Cree0Lesley Uttley1Helen Buckley Woods2Hugh Kikuchi3Anne Reiman4Susan Harnan5Becky L. Whiteman6Sian Taylor Philips7Michael Messenger8Angela Cox9Dawn Teare10Orla Sheils11Jacqui Shaw12For the UK Early Cancer Detection ConsortiumWHO Classification of Tumours Group, International Agency for Research on Cancer (IARC), World Health OrganizationThe School of Health and Related Research, The University of SheffieldThe School of Health and Related Research, The University of SheffieldDepartment of Pathology, University Hospitals Coventry and WarwickshireFaculty of Health and Life Sciences, Coventry UniversityThe School of Health and Related Research, The University of SheffieldLondon North West Healthcare NHS Trust, Northwick Park HospitalWarwick Medical School, University of WarwickLeeds Centre for Personalised Medicine and Health, University of Leeds and NIHR Diagnostic Evidence Co-Operative Leeds, Leeds Teaching Hospitals NHS TrustSheffield Institute for Nucleic Acids, Department of Oncology and Metabolism, The University of Sheffield, Medical SchoolThe School of Health and Related Research, The University of SheffieldSir Patrick Dun Research Laboratory, Central Pathology Laboratory, St James’s Hospital & Trinity College DublinUniversity of Leicester, Robert Kilpatrick Clinical Sciences Building, Leicester Royal InfirmaryAbstract Background The presence of circulating cell-free DNA from tumours in blood (ctDNA) is of major importance to those interested in early cancer detection, as well as to those wishing to monitor tumour progression or diagnose the presence of activating mutations to guide treatment. In 2014, the UK Early Cancer Detection Consortium undertook a systematic mapping review of the literature to identify blood-based biomarkers with potential for the development of a non-invasive blood test for cancer screening, and which identified this as a major area of interest. This review builds on the mapping review to expand the ctDNA dataset to examine the best options for the detection of multiple cancer types. Methods The original mapping review was based on comprehensive searches of the electronic databases Medline, Embase, CINAHL, the Cochrane library, and Biosis to obtain relevant literature on blood-based biomarkers for cancer detection in humans (PROSPERO no. CRD42014010827). The abstracts for each paper were reviewed to determine whether validation data were reported, and then examined in full. Publications concentrating on monitoring of disease burden or mutations were excluded. Results The search identified 94 ctDNA studies meeting the criteria for review. All but 5 studies examined one cancer type, with breast, colorectal and lung cancers representing 60% of studies. The size and design of the studies varied widely. Controls were included in 77% of publications. The largest study included 640 patients, but the median study size was 65 cases and 35 controls, and the bulk of studies (71%) included less than 100 patients. Studies either estimated cfDNA levels non-specifically or tested for cancer-specific mutations or methylation changes (the majority using PCR-based methods). Conclusion We have systematically reviewed ctDNA blood biomarkers for the early detection of cancer. Pre-analytical, analytical, and post-analytical considerations were identified which need to be addressed before such biomarkers enter clinical practice. The value of small studies with no comparison between methods, or even the inclusion of controls is highly questionable, and larger validation studies will be required before such methods can be considered for early cancer detection.http://link.springer.com/article/10.1186/s12885-017-3693-7cfDNActDNACancerDetectionDiagnosisLiquid biopsy |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Ian A. Cree Lesley Uttley Helen Buckley Woods Hugh Kikuchi Anne Reiman Susan Harnan Becky L. Whiteman Sian Taylor Philips Michael Messenger Angela Cox Dawn Teare Orla Sheils Jacqui Shaw For the UK Early Cancer Detection Consortium |
spellingShingle |
Ian A. Cree Lesley Uttley Helen Buckley Woods Hugh Kikuchi Anne Reiman Susan Harnan Becky L. Whiteman Sian Taylor Philips Michael Messenger Angela Cox Dawn Teare Orla Sheils Jacqui Shaw For the UK Early Cancer Detection Consortium The evidence base for circulating tumour DNA blood-based biomarkers for the early detection of cancer: a systematic mapping review BMC Cancer cfDNA ctDNA Cancer Detection Diagnosis Liquid biopsy |
author_facet |
Ian A. Cree Lesley Uttley Helen Buckley Woods Hugh Kikuchi Anne Reiman Susan Harnan Becky L. Whiteman Sian Taylor Philips Michael Messenger Angela Cox Dawn Teare Orla Sheils Jacqui Shaw For the UK Early Cancer Detection Consortium |
author_sort |
Ian A. Cree |
title |
The evidence base for circulating tumour DNA blood-based biomarkers for the early detection of cancer: a systematic mapping review |
title_short |
The evidence base for circulating tumour DNA blood-based biomarkers for the early detection of cancer: a systematic mapping review |
title_full |
The evidence base for circulating tumour DNA blood-based biomarkers for the early detection of cancer: a systematic mapping review |
title_fullStr |
The evidence base for circulating tumour DNA blood-based biomarkers for the early detection of cancer: a systematic mapping review |
title_full_unstemmed |
The evidence base for circulating tumour DNA blood-based biomarkers for the early detection of cancer: a systematic mapping review |
title_sort |
evidence base for circulating tumour dna blood-based biomarkers for the early detection of cancer: a systematic mapping review |
publisher |
BMC |
series |
BMC Cancer |
issn |
1471-2407 |
publishDate |
2017-10-01 |
description |
Abstract Background The presence of circulating cell-free DNA from tumours in blood (ctDNA) is of major importance to those interested in early cancer detection, as well as to those wishing to monitor tumour progression or diagnose the presence of activating mutations to guide treatment. In 2014, the UK Early Cancer Detection Consortium undertook a systematic mapping review of the literature to identify blood-based biomarkers with potential for the development of a non-invasive blood test for cancer screening, and which identified this as a major area of interest. This review builds on the mapping review to expand the ctDNA dataset to examine the best options for the detection of multiple cancer types. Methods The original mapping review was based on comprehensive searches of the electronic databases Medline, Embase, CINAHL, the Cochrane library, and Biosis to obtain relevant literature on blood-based biomarkers for cancer detection in humans (PROSPERO no. CRD42014010827). The abstracts for each paper were reviewed to determine whether validation data were reported, and then examined in full. Publications concentrating on monitoring of disease burden or mutations were excluded. Results The search identified 94 ctDNA studies meeting the criteria for review. All but 5 studies examined one cancer type, with breast, colorectal and lung cancers representing 60% of studies. The size and design of the studies varied widely. Controls were included in 77% of publications. The largest study included 640 patients, but the median study size was 65 cases and 35 controls, and the bulk of studies (71%) included less than 100 patients. Studies either estimated cfDNA levels non-specifically or tested for cancer-specific mutations or methylation changes (the majority using PCR-based methods). Conclusion We have systematically reviewed ctDNA blood biomarkers for the early detection of cancer. Pre-analytical, analytical, and post-analytical considerations were identified which need to be addressed before such biomarkers enter clinical practice. The value of small studies with no comparison between methods, or even the inclusion of controls is highly questionable, and larger validation studies will be required before such methods can be considered for early cancer detection. |
topic |
cfDNA ctDNA Cancer Detection Diagnosis Liquid biopsy |
url |
http://link.springer.com/article/10.1186/s12885-017-3693-7 |
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