Scholarlink

<p>This multicentre study addresses the genetic spectrum of colorectal polyposis in China. We analyzed 120 patients with over 10 adenomas using a 139-gene next-generation sequencing panel and multiplex ligation-dependent probe amplification. Findings revealed that 89 patients carried pathogenic germline variants, primarily in the <i>APC</i> gene. Notably, one patient had both <i>APC</i> and <i>BRCA2</i> variants from different parental lines. Our results indicate a higher <i>APC</i> mutation rate compared to prior studies, primarily consisting of nonsense mutations. This research represents the first multicentre clinical investigation in China, highlighting significant differences in mutation profiles compared to the study conducted by the research team from Germany. Since patients were categorized by adenoma count, with none in the 10–19 range diagnosed with hereditary tumors, we recommend delaying genetic testing for those with fewer than 20 adenomas, while emphasizing the need for prompt testing for higher counts.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年3月15日

查看全文
  • Mengyuan Yang,
  • Ding Zhang,
  • Zhijun Yuan,
  • Daici Chen,
  • Haixing Ju,
  • Bin Wu,
  • Jie Pan,
  • Guoli Gu,
  • Yuehong Cui,
  • Yanhong Gu,
  • Dong Xu,
  • Ying Yuan

摘要

This multicentre study addresses the genetic spectrum of colorectal polyposis in China. We analyzed 120 patients with over 10 adenomas using a 139-gene next-generation sequencing panel and multiplex ligation-dependent probe amplification. Findings revealed that 89 patients carried pathogenic germline variants, primarily in the APC gene. Notably, one patient had both APC and BRCA2 variants from different parental lines. Our results indicate a higher APC mutation rate compared to prior studies, primarily consisting of nonsense mutations. This research represents the first multicentre clinical investigation in China, highlighting significant differences in mutation profiles compared to the study conducted by the research team from Germany. Since patients were categorized by adenoma count, with none in the 10–19 range diagnosed with hereditary tumors, we recommend delaying genetic testing for those with fewer than 20 adenomas, while emphasizing the need for prompt testing for higher counts.