Genomic mosaicism in colorectal cancer and polyposis syndromes: a systematic review and meta-analysis

Colorectal cancer (CRC) and polypoid syndromes are significant public health concerns, with somatic mosaicism playing a crucial role in their genetic diversity. This study aimed to investigate the prevalence and impact of somatic mosaicism in these conditions.

A search was conducted using PubMed, Scopus, and Web of Sciences to identify studies evaluating mosaicism in patients with CRC or polyposis syndromes. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated to determine prevalence rates. Statistical analyses were performed using R software 4.3.

A total of 27 studies, encompassing 2272 patients, were included in the analysis. Of these, 108 patients exhibited somatic mosaicism, resulting in an overall prevalence of 8.79% (95% CI 5.1 to 14.70%, I² = 85; p < 0.01). Subgroup analyses revealed a significantly higher prevalence of mosaicism in patients with APC mutations (OR 13.43%, 95% CI 6.36 to 26.18%, I² = 87; p < 0.01). Additionally, mosaicism in MLH1 and MSH2 genes was observed at rates of 2.75% (95% CI 1.20 to 6.18%) and 9.69% (95% CI 2.98 to 27.24%), respectively.

Our findings support the growing recognition of mosaicism as a critical factor in CRC susceptibility and underscore the importance of incorporating mosaicism screening into routine genetic testing for at-risk patients.