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<p>Colorectal cancer (CRC) is the third most frequent cancer worldwide. It is the second leading cause of cancer-related death, affecting both men and women. It has been described that 20–25% of colorectal tumors have mutations in the <i>PIK3CA</i> gene, mainly in three hotspots: E542 and E545 and H1047. The aim of this study was to compare the prevalence of <i>PIK3CA</i> gene mutations in colorectal tumors based on a systematic review of a selection of studies. Nighty seven studies enrolling 48,446 patients were eligible for inclusion. Most studies were conducted in Asian (41.2%) and European countries (34.0%). The global prevalence ranged from 0 to 80%, with a mean prevalence of 13.7%. Fourteen studies reported a prevalence of less than 5%, 22 between 5 and 10%, 32 between 10 and 15% and 29 showed a prevalence of more than 15%. Mutations were more common in exon 9 than in exon 20 (9.5% vs. 4.7%). After discussing a number of possible reasons that could explain the differences in prevalence, it is very hard to deduce which is the main factor influencing the observed frequency.</p>

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Analysis of PIK3CA mutation prevalence variation among colorectal cancer populations: a comprehensive review

  • 期刊论文

  • 发表日期：

    2025年11月19日

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  • Vital M

摘要

Colorectal cancer (CRC) is the third most frequent cancer worldwide. It is the second leading cause of cancer-related death, affecting both men and women. It has been described that 20–25% of colorectal tumors have mutations in the PIK3CA gene, mainly in three hotspots: E542 and E545 and H1047. The aim of this study was to compare the prevalence of PIK3CA gene mutations in colorectal tumors based on a systematic review of a selection of studies. Nighty seven studies enrolling 48,446 patients were eligible for inclusion. Most studies were conducted in Asian (41.2%) and European countries (34.0%). The global prevalence ranged from 0 to 80%, with a mean prevalence of 13.7%. Fourteen studies reported a prevalence of less than 5%, 22 between 5 and 10%, 32 between 10 and 15% and 29 showed a prevalence of more than 15%. Mutations were more common in exon 9 than in exon 20 (9.5% vs. 4.7%). After discussing a number of possible reasons that could explain the differences in prevalence, it is very hard to deduce which is the main factor influencing the observed frequency.