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

IF 2.3 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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结直肠癌和息肉病综合征中的基因组嵌合现象：系统综述和荟萃分析。

背景：结肠直肠癌（CRC）和多形性综合征是重大的公共卫生问题，体细胞嵌合在其遗传多样性中起着至关重要的作用。本研究旨在调查体细胞嵌合在这些疾病中的发生率和影响：方法：使用 PubMed、Scopus 和 Web of Sciences 进行检索，以确定评估 CRC 或息肉病综合征患者体细胞嵌合情况的研究。通过计算带有 95% 置信区间 (CI) 的比值比 (OR) 来确定患病率。统计分析使用 R 软件 4.3 进行：共有 27 项研究纳入分析，涉及 2272 名患者。其中，108 名患者表现出体细胞镶嵌，总患病率为 8.79%（95% CI 5.1% 至 14.70%，I2 = 85；P 2 = 87；P 结论：我们的研究结果支持了对镶嵌现象的日益认可：越来越多的人认识到嵌合体是导致 CRC 易感性的关键因素，我们的研究结果支持了这一认识，并强调了将嵌合体筛查纳入高危患者常规基因检测的重要性。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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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.