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

IF 2.5 3区医学 Q2 GASTROENTEROLOGY & HEPATOLOGY International Journal of Colorectal Disease Pub Date : 2024-12-15 DOI:10.1007/s00384-024-04776-8

Francisco Cezar Aquino de Moraes, Nayara Rozalem Moretti, Vitor Kendi Tsuchiya Sano, Cristiane Wen Tsing Ngan, Rommel Mario Rodríguez Burbano

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Abstract

Background: 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.

Methods: 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.

Results: 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.

Conclusions: 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.

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来源期刊

International Journal of Colorectal Disease 医学-外科

CiteScore

4.90

自引率

3.60%

发文量

206

审稿时长

3-8 weeks

期刊介绍： The International Journal of Colorectal Disease, Clinical and Molecular Gastroenterology and Surgery aims to publish novel and state-of-the-art papers which deal with the physiology and pathophysiology of diseases involving the entire gastrointestinal tract. In addition to original research articles, the following categories will be included: reviews (usually commissioned but may also be submitted), case reports, letters to the editor, and protocols on clinical studies. The journal offers its readers an interdisciplinary forum for clinical science and molecular research related to gastrointestinal disease.