Only about 5% of colorectal cancers are hereditary, which is due to the low carrier rate of pathogenic gene mutations. The typical pattern of these cases is intergenerational aggregation within families and early onset. But public awareness of early diagnosis and intervention of HCRC is insufficient, resulting in most patients being diagnosed only after developing cancer, thereby missing the optimal window for treatment. This article reviews the latest developments in precision screening, treatment, evaluation and prevention strategies for HCRC, including innovative uses of artificial intelligence (AI) in molecular diagnostics, imaging technology advances, and potential application prospects. Regarding precision screening, tests of genomics, transcriptomics, microbiome, etc., combined with personalised risk stratification, can, respectively, effectively detect pathogenic mutations and “cancer-promoting” intestinal environments in the preclinical stage. AI combined with endoscopic and imaging tools has improved the accuracy of polyp detection and tumor profiling. Liquid biopsy and molecular marker detection provide new non-invasive monitoring solutions. In precision treatment, beyond traditional approaches like surgery and chemotherapy, immunotherapy with checkpoint inhibitors may be considered for HCRC patients with mismatch repair deficiency (dMMR). For patients harboring somatic mutations such as KRAS or BRAF V600E, targeted therapy can be guided by these specific mutations. Regarding precision assessment, AI incorporates microsatellite instability (MSI) detection and imaging diagnostic techniques, crucial for integrating genetic, environmental, and lifestyle data in follow-up. This helps assess the risk of recurrence and adjust the long-term medication regimens, as well as provide effective nutritional support and psychological counselling. In summary, the rapid development of precision medicine is driving the clinical management of HCRC into the era of tailored care, aiming to optimise patient outcomes.
仅有约5%的结直肠癌具有遗传性，这归因于致病基因突变的携带率较低。这类病例的典型特征表现为家族内跨代聚集和早发倾向。然而公众对遗传性结直肠癌早期诊断与干预的认知不足，导致多数患者仅在癌变后才被确诊，从而错失最佳治疗窗口。本文综述了遗传性结直肠癌精准筛查、治疗、评估及预防策略的最新进展，涵盖人工智能在分子诊断中的创新应用、影像技术进步及潜在应用前景。在精准筛查方面，基因组学、转录组学、微生物组学等检测技术结合个体化风险分层，可分别在临床前期有效识别致病突变与"促癌"肠道环境。人工智能联合内镜与影像工具提升了息肉检出与肿瘤特征分析的准确性。液体活检与分子标志物检测为无创监测提供了新方案。在精准治疗方面，除传统手术与化疗外，错配修复缺陷患者可考虑免疫检查点抑制剂治疗。针对携带KRAS或BRAF V600E等体细胞突变的患者，靶向治疗可依据特定突变进行指导。在精准评估方面，人工智能整合微卫星不稳定性检测与影像诊断技术，对融合遗传、环境及生活方式数据的随访至关重要。这有助于评估复发风险并调整长期用药方案，同时提供有效的营养支持与心理疏导。总之，精准医学的快速发展正推动遗传性结直肠癌临床管理迈入个体化诊疗时代，旨在优化患者预后。
Advances in Hereditary Colorectal Cancer: How Precision Medicine Is Changing the Game
肿瘤(癌症)患者之家