Distinct Germline Mutation Landscape and Clinical Implications in Chinese Colorectal Cancer Patients

Multi-gene sequencing in unselected Chinese CRC population, PGV prevalence and clinical implications, population-specific testing strategy

1,094 consecutive Chinese CRC patients from two centers undergo germline multi-gene sequencing. A significant PGV prevalence is identified, with a distinctive genetic landscape compared to Western cohorts: predominance of Lynch syndrome gene variants (MLH1, MSH2, MSH6) and APC variants, with Chinese population-specific allele frequencies and founder mutations. These results inform a genetic testing strategy adapted to East Asian populations, differing from Western panels.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Germline mutational landscape of CRC varies by ethnic origin, with different founder variants and frequencies in Asian populations. These data are essential for adapting multi-gene panels and screening thresholds to non-European populations, heavily underrepresented in major databases (ClinVar, gnomAD).

Clinical impact: 3/3 · Evidence strength: 3/3 · Novelty: 1/2 · Sample size: 1/1 · Publication status: 1/1 → Total: 9/10