Department of Oral and Maxillofacial Diseases, Helsinki University Hospital and University of Helsinki, 00290 Helsinki, Finland.
Department of Animal Biology, Plant Biology, and Ecology, Faculty of Biosciences, Universitat Autònoma de Barcelona, 08193 Barcelona, Catalonia, Spain.
Biomolecules. 2022 Jul 23;12(8):1021. doi: 10.3390/biom12081021.
Molecular cancer biomarkers are any measurable molecular indicator of risk of cancer, occurrence of cancer, or patient outcome. They may include germline or somatic genetic variants, epigenetic signatures, transcriptional changes, and proteomic signatures. These indicators are based on biomolecules, such as nucleic acids and proteins, that can be detected in samples obtained from tissues through tumor biopsy or, more easily and non-invasively, from blood (or serum or plasma), saliva, buccal swabs, stool, urine, etc. Detection technologies have advanced tremendously over the last decades, including techniques such as next-generation sequencing, nanotechnology, or methods to study circulating tumor DNA/RNA or exosomes. Clinical applications of biomarkers are extensive. They can be used as tools for cancer risk assessment, screening and early detection of cancer, accurate diagnosis, patient prognosis, prediction of response to therapy, and cancer surveillance and monitoring response. Therefore, they can help to optimize making decisions in clinical practice. Moreover, precision oncology is needed for newly developed targeted therapies, as they are functional only in patients with specific cancer genetic mutations, and biomarkers are the tools used for the identification of these subsets of patients. Improvement in the field of cancer biomarkers is, however, needed to overcome the scientific challenge of developing new biomarkers with greater sensitivity, specificity, and positive predictive value.
分子癌症生物标志物是指任何可衡量的癌症风险、癌症发生或患者预后的分子指标。它们可能包括种系或体细胞遗传变异、表观遗传特征、转录变化和蛋白质组学特征。这些指标基于可在组织样本中检测到的生物分子，例如通过肿瘤活检获得的组织样本，或者更简单、无创地从血液（或血清或血浆）、唾液、口腔拭子、粪便、尿液等中获得的样本。在过去几十年中，检测技术取得了巨大进展，包括下一代测序、纳米技术或研究循环肿瘤 DNA/RNA 或外泌体的方法等技术。生物标志物的临床应用非常广泛。它们可用作癌症风险评估的工具、癌症的筛查和早期检测、准确的诊断、患者的预后、治疗反应的预测以及癌症的监测和治疗反应的监测。因此，它们有助于优化临床实践中的决策。此外，新开发的靶向治疗需要精准肿瘤学，因为它们仅对具有特定癌症基因突变的患者有效，而生物标志物是用于鉴定这些特定患者亚群的工具。然而，需要改进癌症生物标志物领域，以克服开发具有更高灵敏度、特异性和阳性预测值的新生物标志物的科学挑战。
