@article{3078069,
    title = "The potential of ctDNA analysis in breast cancer",
    author = "Tzanikou, E. and Lianidou, E.",
    journal = "Critical Reviews in Clinical Laboratory Sciences",
    year = "2020",
    volume = "57",
    number = "1",
    pages = "54-72",
    publisher = "Taylor and Francis Ltd.",
    issn = "1040-8363, 1549-781X",
    doi = "10.1080/10408363.2019.1670615",
    keywords = "aromatase inhibitor;  biological marker;  circulating tumor DNA;  exemestane;  fulvestrant;  letrozole;  neratinib;  olaparib;  palbociclib;  ribociclib;  tamoxifen, advanced cancer;  amplicon;  amplification refractory mutation system polymerase chain reaction;  analytical parameters;  bisulfite sequencing;  breast cancer;  breast carcinogenesis;  breast surgery;  cancer hormone therapy;  cancer recurrence;  cancer staging;  cancer survival;  cancer tissue;  circulating tumor cell;  comparative study;  DNA methylation;  droplet digital polymerase chain reaction;  early cancer;  estrogen receptor positive breast cancer;  gene amplification;  gene frequency;  gene mutation;  high resolution melting analysis;  high throughput sequencing;  human;  human epidermal growth factor receptor 2 positive breast cancer;  metastatic breast cancer;  methodology;  minimal residual disease;  neoadjuvant chemotherapy;  next generation sequencing;  overall survival;  point mutation;  polymerase chain reaction;  prediction;  primary tumor;  priority journal;  progression free survival;  pyrosequencing;  quantitative methylation specific polymerase chain reaction;  recurrence risk;  Review;  treatment response;  triple negative breast cancer;  tumor-related gene;  whole genome sequencing",
    abstract = "Breast cancer is a highly heterogeneous and dynamic disease, exhibiting unique somatic alterations that lead to disease recurrence and resistance. Tumor biopsy and conventional imaging approaches are not able to provide sufficient information regarding the early detection of recurrence and real time monitoring through tracking sensitive or resistance mechanisms to treatment. Circulating tumor DNA (ctDNA) analysis has emerged as an attractive noninvasive methodology to detect cancer-specific genetic aberrations in plasma including DNA mutations and DNA methylation patterns. Numerous studies have reported on the potential of ctDNA analysis in the management of early and advanced stages of breast cancer. Advances in high-throughput technologies, especially next generation sequencing and PCR-based assays, were highly important for the successful application of ctDNA analysis. However, before being integrated into clinical practice, ctDNA analysis needs to be standardized and validated through the performance of multicenter prospective and well-designed clinical studies. This review is focused on the clinical utility of ctDNA analysis, especially at the DNA mutation and methylation level, in breast cancer patients, incorporating the latest advances in technological approaches and involving key studies in the early and metastatic setting. © 2019, © 2019 Informa UK Limited, trading as Taylor & Francis Group."
}