Detection of somatic mutations in circulating tumor DNA of patients with operable lung cancer

可手术肺癌患者循环肿瘤DNA体细胞突变的检测

• 批准号: 421973058
• 负责人: Dr. Asmae Gassa
• 金额: --
• 依托单位: Klinik und Poliklinik für Herz- und Thoraxchirurgie
• 依托单位国家: 德国
• 项目类别: Research Grants
• 财政年份: 2019
• 资助国家: 德国
• 起止时间: 2018-12-31 至 2022-12-31
• 项目状态: 已结题
• 来源: https://gepris.dfg.de/gepris/projekt/421973058?language=en
• 关键词: Detection; somatic; mutations; circulating; tumor

At first diagnosis, only about 20% of patients with bronchial carcinoma are operable. Operable patients relapse in 30% of the cases. Therefore, early screening by minimally invasive methods for risk of metastases and recurrence is an urgent medical need. Droplet digital PCR (ddPCR) is an effective method of specifically and sensitively detecting circulating tumor DNA in plasma and revealing possible indications of metastases. Prospective collected biobank material of primary lung cancer is examined for somatic mutations by next-generation sequencing (NGS) and serves as a matrix for specific PCR probes. In the first steps it is necessary to map the NGS associated mutations, identify possible primers, evaluate the primer pairs in the tissue and finally test them on plasma. Plasma of patients will be screened for circulating tumor DNA and ultimately correlated with metastasis and recurrence.

最初诊断时，只有大约20%的支气管癌患者是可以手术的。可手术的患者中有30%复发。因此，通过微创方法早期筛查肿瘤转移和复发的风险是医学上的迫切需要。滴状数字聚合酶链式反应(DdPCR)是一种特异、灵敏地检测血浆中循环肿瘤DNA并揭示可能的转移指征的有效方法。预期收集的原发肺癌生物库材料通过下一代测序(NGS)检查体细胞突变，并作为特定PCR探针的基质。在第一步中，有必要绘制与NGS相关的突变图谱，确定可能的引物，评估组织中的引物对，最后在血浆中测试它们。患者的血浆将被筛查循环中的肿瘤DNA，最终与转移和复发相关。