Evidence map›Paper›PMID 40089605›Full record

ArticleNPJ precision oncology2025

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

Mengyuan Yang, Ding Zhang, Zhijun Yuan, Daici Chen, Haixing Ju, Bin Wu, Jie Pan, Guoli Gu, Yuehong Cui, Yanhong Gu and 2 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in NPJ precision oncology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Pooled it
  2. Review
  3. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

12 authors.

Mengyuan Yang *Department of Medical Oncology, Key Laboratory of Cancer Prevention and Intervention, Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310009, China.
Ding Zhang *Department of Medical Oncology, Key Laboratory of Cancer Prevention and Intervention, Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310009, China.
Zhijun Yuan *Department of Pathology and Pathophysiology, School of Medicine, Zhejiang University, Hangzhou, 310058, China.
Daici ChenGuangdong Provincial Key Laboratory of Colorectal and Pelvic Floor Diseases, Guangdong Institute of Gastroenterology, Department of Clinical Laboratory, the Sixth Affiliated Hospital, Sun Yat-sen University, Guangzhou, Guangdong, 510655, China.
Haixing JuDepartment of Colorectal Surgery, Cancer Hospital of the University of Chinese Academy of Sciences (Zhejiang Cancer Hospital), Hangzhou, Zhejiang, 310022, China.
Bin WuDepartment of General Surgery, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100005, China.
Jie PanDepartment of Gastroenterology, Wenzhou Central Hospital, Wenzhou, Zhejiang, 325000, China.
Guoli GuDepartment of General Surgery, Air Force Medical Center, Chinese People's Liberation Army, Beijing, 100142, China.
Yuehong CuiDepartment of Medical Oncology, Zhongshan Hospital, Fudan University, Shanghai, 200032, China.
Yanhong GuDepartment of Oncology, Jiangsu Province Hospital, Nanjing, Jiangsu, 210000, China.
Dong XuCancer Institute, Key Laboratory of Cancer Prevention and Intervention, Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310009, China.
Ying YuanDepartment of Medical Oncology, Key Laboratory of Cancer Prevention and Intervention, Ministry of Education, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, 310009, China. yuanying1999@zju.edu.cn.

Funding

Beijing Xisike Clinical Oncology Research Foundation Y-tongshu2021/ms-0003National Natural Science Foundation of China 82373415Provincial Key R&D Program of Zhejiang Province 2021C03125Zhejiang Provincial Clinical Research Center for CANCER 2022E50008, 2024ZY01056
6 · The paper itself

Abstract

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.

Identifiers

PMID40089605
PMCPMC11910526

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.