Early detection of breast cancer would help alleviate the burden of treatment for early-stage breast cancer and help patient prognosis. There is currently no established gene panel that utilizes the potential of DNA methylation as a molecular signature for the early detection of breast cancer. This systematic review aims to identify the optimal methylation biomarkers for a non-invasive liquid biopsy assay and the gaps in knowledge regarding biomarkers for early detection of breast cancer. Following the PRISMA-ScR method, Pubmed and Google Scholar was searched for publications related to methylation biomarkers in breast cancer over a five-year period. Eligible publications were mined for key data fields such as study aims, cohort demographics, types of breast cancer studied, technologies used, and outcomes. Data was analyzed to address the objectives of the review. Literature search identified 112 studies of which based on eligibility criteria, 13 studies were included. 28 potential methylation gene targets were identified, of which 23 were methylated at the promoter region, 1 was methylated in the body of the gene and 4 were methylated at yet to be identified locations. Our evaluation shows that at minimum APC, RASSFI, and FOXA1 genes would be a promising set of genes to start with for the early detection of breast cancer, based on the sensitivity and specificity outlined in the studies. Prospective studies are needed to optimize biomarkers for broader impact in early detection of breast cancer.

中文翻译：

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甲基化特征作为乳腺癌非侵入性早期检测的生物标志物：文献的系统回顾

乳腺癌的早期发现有助于减轻早期乳腺癌的治疗负担，有利于患者的预后。目前还没有成熟的基因组可以利用 DNA 甲基化的潜力作为早期检测乳腺癌的分子特征。本系统综述旨在确定非侵入性液体活检的最佳甲基化生物标志物，以及有关乳腺癌早期检测生物标志物的知识差距。按照 PRISMA-ScR 方法，Pubmed 和 Google Scholar 搜索了五年内与乳腺癌甲基化生物标志物相关的出版物。挖掘了符合条件的出版物的关键数据领域，例如研究目标、队列人口统计、研究的乳腺癌类型、使用的技术和结果。分析数据以实现审查的目标。文献检索确定了 112 项研究，根据纳入标准，纳入了 13 项研究。鉴定出28个潜在的甲基化基因靶标，其中23个在启动子区域甲基化，1个在基因体内甲基化，4个在尚未确定的位置甲基化。我们的评估表明，根据研究中概述的敏感性和特异性，APC、RASSFI 和 FOXA1 基因至少是一组有前途的乳腺癌早期检测基因。需要进行前瞻性研究来优化生物标志物，以对乳腺癌的早期检测产生更广泛的影响。