ArticleCancer medicine2026
Distinct Germline Mutation Landscape and Clinical Implications in Chinese Colorectal Cancer: A Large-Scale Genomic Analysis of 1094 Patients.
Article in Cancer medicine, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
objectiveTo investigate the prevalence, characteristics, and clinical implications of germline mutations in a consecutive cohort of Chinese colorectal cancer (CRC) patients, providing insights that may inform population-specific genetic testing strategies.
methodsA total of 1094 CRC patients from two centers were retrospectively analyzed using a 53-gene hereditary cancer panel. Germline variants were classified according to ACMG/AMP guidelines. Clinical characteristics, molecular features, and survival outcomes were examined, and mutation frequencies were compared with published data.
resultsGermline pathogenic/likely pathogenic (P/LP) mutations were identified in 9.3% of patients, with mismatch repair (MMR) genes most frequently affected (4.2%). Higher mutation rates were associated with early-onset CRC, nonmetastatic disease, and a family history of cancer. Compared to Western populations, Chinese patients showed significantly lower frequencies of MUTYH and APC mutations (both 0.4% vs. 2.0%, p < 0.01) but higher rates of MMR mutations. Among the 106 germline variants detected, 63.2% were in NCCN-recommended genes, while 36.8% were found in non-NCCN genes, primarily within homologous recombination repair and Fanconi anemia pathways. Patients harboring germline P/LP mutations had significantly better progression-free survival (HR = 0.52, p < 0.001). Notably, 50.0% of mutation carriers had no family history, and 29.4% were diagnosed after age 65, highlighting the limitations of current criteria-based testing strategies.
conclusionsThis study reveals distinct germline mutation patterns and clinical features in Chinese CRC patients, underscoring the need for population-specific genetic testing and tailored screening to improve prevention, early detection, and personalized treatment in Asian populations.
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