关键词: 结直肠癌, 靶向治疗, 基因突变, 基因重排, 基因扩增

Abstract: With the development of precision medicine, an increasing number of rare genetic variations (including gene mutations, amplifications, rearrangements/fusions) have been found to be associated with the progression of colorectal cancer. In the field of metastatic colorectal cancer (mCRC), the research and development of targeted drugs for rare mutations in genes, such as BRAF, ERBB2 (HER2), KRAS, and NTRK, in recent years have provided new treatment options for patients with these specific genetic types, significantly improving their survival conditions. Understanding the status and clinical research results of these rare genetic variations is crucial for selecting the optimal treatment plan. However, this field still faces many challenges and problems. With the further development of precision medicine and the continuous progress of drug discovery, more targeted drugs targeting specific molecular types will be applied to the treatment of colorectal cancer in the future. At the same time, more mCRC patients with rare gene mutations will have the opportunity to receive molecular targeted therapy with better specificity and efficacy.

Key words: colorectal cancer, targeted therapy, gene mutation, gene rearrangement, gene amplification