Identifying Novel Biomarkers Ready for Evaluation in Low-Prevalence Populations for the Early Detection of Lower Gastrointestinal Cancers: A Systematic Review and Meta-Analysis

Lower gastrointestinal (GI) cancers are a major cause of cancer deaths worldwide. Prognosis improves with earlier diagnosis, and non-invasive biomarkers have the potential to aid with early detection. This systematic review aimed to identify novel biomarkers for the detection of lower GI cancers that have the potential to be evaluated for use in primary care. 142 studies reporting on biomarkers for lower GI cancers were identified with a total of 378 unique biomarkers. Heterogeneity of study design, population type and sample source meant meta-analysis was only possible for methylated septin 9 (mSEPT9) and pyruvate kinase type tumour M2 (TuM2-PK). The estimated sensitivity and specificity of mSEPT9 was 80.6% and 88.0% respectively; TuM2-PK had an estimated sensitivity of 81.6% and specificity of 80.1% . This highlights the need for further studies on mSEPT9 and TuM2-PK in low-prevalence populations; better reporting to facilitate translation of biomarkers into primary care; and more consistency in the use of biomarkers. 

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