Evaluation of role of bioinformatics in breast cancer management and early detection : a systematic review

Abstract

Introduction: Breast cancer is one of the leading causes of death and early detection of breast cancer has been one of possible effective ways to reduce mortality rate and burden of disease. New approaches of breast cancer detection have been developed with the development of bioinformatics, which has provided a more sensitive and specific blood-based way for early diagnosis. However, the validity and reliability of using microRNAs as biomarkers in breast cancer early diagnosis still lack of systematically analysis to evaluate its effectiveness in clinical practice of early diagnosing breast cancer.

Methods: A literature research has been conducted through multiple electronic sources, including PubMed, BioMed Central, Medline, Cochrane Liabary, and Google Scholar, with all combinations of keywords. A critical review is proposed among the selected case-control studies with the purpose of investigating the validity and utility of potential miRNAs as biomarker for breast cancer early diagnostics since 1993, when the first miRNAs was discovered. STROBE checklist was used to assess the effectiveness of the observational studies that were identified with the proposed inclusion and exclusion criteria.

Results: Comparing the expressed levels of detected microRNAs in blood samples and conventional tumor biomarkers, relatively higher sensitivity and specificity of microRNAs than the tumor markers, CA15-3, CEA as biomarkers were found. Also, clinicopathological features were not significantly associated with expressed levels of microRNAs.

Limitations: Common limitation of previous published studies includes small size of study population and inconsistency of expressed level across different studies implicated risk of bias in published studies. However, there is significant variability with evidence-based in experimental design, sample size, data extraction, bioinoformatics technology and clinicopathological features of patients.

Conclusions: Using MicroRNAs in blood can achieve a higher sensitivity and specificity to diagnose early stage breast cancer than conventional tumor markers. However, association with clinicopathological features was not investigated in the detection and validation phases of biomarkers. Moreover, the inconsistency of microRNAs regulation and not large enough of sample size were several weaknesses of these studies. It is necessary to expand the study population and depth before this kind of individualized medical service could be made available in hospitals.