Home > Publications database > Whole-blood DNA methylation markers in early detection of breast cancer: a systematic literature review. |
Journal Article (Review Article) | DKFZ-2018-02080 |
; ; ; ;
2019
AACR
Philadelphia, Pa.
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Please use a persistent id in citations: doi:10.1158/1055-9965.EPI-18-0378
Abstract: Whole-blood DNA methylation markers have been suggested as potential biomarkers for early detection of breast cancer (BC). We conducted a systematic review of literature on whole-blood DNA methylation markers for BC detection. PubMed and ISI Web of Knowledge were searched up to 29th May 2018. Overall, 33 studies evaluating 355 markers were included. The diagnostic value of most individual markers was relatively modest, with only 6 markers showing sensitivity >40% at specificity >75% (only 2 (HYAL2 and S100P) were independently validated). Although relatively strong associations (OR<=0.5 or OR>=2) with BC were reported for 14 markers, most of them were not independently validated. Two prospective studies performed epigenome-wide association analysis and identified 276 CpG sites related to BC risk, but no overlap was observed between CpGs reported from these 2 studies. Five studies incorporated individual markers as panels but only 2 of them used a test-validation approach. In conclusion, so far detected methylation markers are insufficient for BC early detection, but markers or marker-combinations may be useful for BC risk stratification. Utilizing high-throughput methods of methylation quantification, future studies should focus on further mining informative methylation markers and derivation of enhanced multi-maker panels with thorough external validation ideally in prospective settings.
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