UCD School of Medicine and Medical Science, Conway Institute, University College Dublin, Dublin, Ireland; UCD Clinical Research Centre, St. Vincent's University Hospital, Dublin, Ireland.
UCD School of Medicine and Medical Science, Conway Institute, University College Dublin, Dublin, Ireland.
Adv Clin Chem. 2015;71:1-23. doi: 10.1016/bs.acc.2015.05.001. Epub 2015 Jun 23.
Biomarkers play an important role in the detection and management of patients with breast cancer. Thus, BRCA1/2 mutation testing is used for risk assessment in families with a high prevalence of breast and ovarian cancer. Following a diagnosis of breast cancer, measurement of multi-analyte profiles such as uPA/PAI-1 or Oncotype DX may be used for determining prognosis and identifying lymph node-negative patients who may be spared from having to receive adjuvant chemotherapy. Other -gene tests such as the PAM50 ROR, Breast Cancer Index, and EndoPredict have been reported to predict the development of late recurrences and thus may be of value in selecting patients for extended hormone therapy. Mandatory assays include estrogen receptors for identification of endocrine-sensitive cancers and HER2 in selecting patients for treatment with anti-HER2 therapy (e.g., trastuzumab, lapatinib, pertuzumab, and ado-trastuzumab emtansine). Finally, serum biomarkers such as CA 15-3 or CEA may be used in monitoring therapy in patients with advanced disease receiving systemic therapy. Promising new biomarkers undergoing evaluation include circulating tumor cells and circulating tumor-derived DNA.
生物标志物在乳腺癌患者的检测和管理中起着重要作用。因此，BRCA1/2 基因突变检测用于评估具有高乳腺癌和卵巢癌患病率的家族的风险。在诊断出乳腺癌后，可能会测量多分析物谱，如 uPA/PAI-1 或 Oncotype DX，以确定预后并识别可能免于接受辅助化疗的淋巴结阴性患者。其他基因测试，如 PAM50 ROR、乳腺癌指数和 EndoPredict，已被报道可预测晚期复发的发生，因此可能有助于选择接受延长激素治疗的患者。强制性检测包括雌激素受体以识别内分泌敏感型癌症，以及 HER2 以选择接受抗 HER2 治疗（例如曲妥珠单抗、拉帕替尼、帕妥珠单抗和 ado-曲妥珠单抗）的患者。最后，在接受系统治疗的晚期疾病患者中，血清生物标志物如 CA 15-3 或 CEA 可用于监测治疗。正在评估的有前途的新生物标志物包括循环肿瘤细胞和循环肿瘤衍生的 DNA。
