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Liquid biopsy in breast cancer: A comprehensive review

液体活检 乳腺癌 医学 循环肿瘤细胞 微小残留病 胎儿游离DNA 癌症 肿瘤科 血液取样 活检 疾病 内科学 病理 生物 转移 骨髓 胎儿 产前诊断 怀孕 遗传学
作者
Sarah Mirzaie,Maryam Bagherzadeh,Mohammad R. Akbari
出处
期刊:Clinical Genetics [Wiley]
卷期号:95 (6): 643-660 被引量:248
标识
DOI:10.1111/cge.13514
摘要

Breast cancer is the most common cancer among women worldwide. Due to its complexity in nature, effective breast cancer treatment can encounter many challenges. Traditional methods of cancer detection such as tissue biopsy are not comprehensive enough to capture the entire genomic landscape of breast tumors. However, with the introduction of novel techniques, the application of liquid biopsy has been enhanced, enabling the improvement of various aspects of breast cancer management including early diagnosis and screening, prediction of prognosis, early detection of relapse, serial sampling and efficient longitudinal monitoring of disease progress and response to treatment. Various components of tumor cells released into the blood circulation can be analyzed in liquid biopsy sampling, some of which include circulating tumor cells (CTCs), circulating tumor DNA (ctDNA), cell‐free RNA, tumor‐educated platelets and exosomes. These components can be utilized for different purposes. As an example, ctDNA can be sequenced for genetic profiling of the tumors to enhance individualized treatment and longitudinal screening. CTC plasma count analysis or ctDNA detection after curative tumor resection surgery could facilitate early detection of minimal residual disease, aiding in the initiation of adjuvant therapy to prevent recurrence. Furthermore, CTC plasma count can be assessed to determine the stage and prognosis of breast cancer. In this review, we discuss the advantages and limitations of the various components of liquid biopsy used in breast cancer diagnosis and will expand on aspects that require further focus in future research.
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