Uncovering the genetic variation spectrum of colorectal polyposis from a multicentre cohort in China
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.
Authors
- Guo-Li Gu
- Daici Chen (ORCID: https://orcid.org/0000-0002-8872-0592)
- Yanhong Gu
- Yuehong Cui (ORCID: https://orcid.org/0000-0002-2551-7239)
- Ying Yuan (ORCID: https://orcid.org/0000-0002-3922-9553)
- Zhijun Yuan
- Dong Xu (ORCID: https://orcid.org/0000-0002-6828-9328)
- Bin Wu (ORCID: https://orcid.org/0000-0002-4904-5686)
- Ding Zhang (ORCID: https://orcid.org/0000-0002-8334-8349)
- Haixing Ju (ORCID: https://orcid.org/0000-0003-1478-8743)
- Mengyuan Yang (ORCID: https://orcid.org/0009-0005-2342-0993)
- Jie Pan
Institutions
- Sun Yat-sen University (CN)
- Chinese Academy of Medical Sciences & Peking Union Medical College (CN)
- Fudan University (CN)
- Peking Union Medical College Hospital (CN)
- Sixth Affiliated Hospital of Sun Yat-sen University (CN)
- Zhejiang Cancer Hospital (CN)
- Wenzhou Central Hospital (CN)
- Zhongshan Hospital (CN)
- The First Affiliated Hospital, Sun Yat-sen University (CN)
- Air Force General Hospital PLA (CN)
- Jiangsu Province Hospital (CN)
- Chinese People's Liberation Army (CN)
- University of Chinese Academy of Sciences (CN)
- Zhejiang University (CN)
Publication Details
- Journal
- npj Precision Oncology
- Published
- 2025-03-15
- DOI
- https://doi.org/10.1038/s41698-025-00864-2
- Citations
- 2
- Primary Topic
- Genetic factors in colorectal cancer
- Type
- article
- Field-Weighted Citation Impact
- 2.94
Funders
- Beijing Xisike Clinical Oncology Research Foundation
- National Natural Science Foundation of China