Distinct Germline Mutation Landscape and Clinical Implications in Chinese Colorectal Cancer: A Large-Scale Genomic Analysis of 1094 Patients.
Summary
This study investigated the prevalence and characteristics of germline mutations in 1094 Chinese colorectal cancer (CRC) patients using a 53-gene hereditary cancer panel. Pathogenic/likely pathogenic (P/LP) germline mutations were identified in 9.3% of patients, with mismatch repair (MMR) genes being the most frequently affected. Chinese patients showed lower frequencies of MUTYH and APC mutations but higher rates of MMR mutations compared to Western populations. Patients harboring germline P/LP mutations had significantly better progression-free survival, and a notable proportion of carriers lacked family history or were diagnosed after age 65. These findings highlight the need for population-specific genetic testing and screening strategies tailored for Asian populations.
Analysis
This study is of paramount importance for precision medicine in oncology, particularly for Asian populations. It reveals distinct germline mutation patterns in Chinese colorectal cancer patients, challenging the universal applicability of genetic testing criteria based on Western populations. The finding that many mutation carriers would not have been identified by current criteria underscores the need to develop population-specific screening and prevention strategies, potentially through broader genetic testing, to improve early detection and personalized management of CRC.