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

初次诊断时，只有约20%的支气管癌患者可以手术治疗。可手术患者复发率为30%。因此，通过微创方法早期筛查转移和复发的风险是迫切的医疗需求。液滴数字PCR （ddPCR）是一种特异性、敏感性检测血浆循环肿瘤DNA并揭示可能转移迹象的有效方法。通过下一代测序（NGS）检测原发性肺癌的前瞻性生物库材料是否存在体细胞突变，并作为特异性PCR探针的基质。在第一步中，有必要绘制NGS相关突变图谱，确定可能的引物，在组织中评估引物对，最后在血浆中进行测试。患者血浆中循环肿瘤DNA的筛选，最终与转移和复发相关。

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.