Evidence map›Paper›PMID 41327405›Full record

ArticleHuman genomics2025

Germline variant spectrum of hereditary cancer susceptibility genes in a Chinese cohort.

Chanyu Xiong, Xiao Wang, Juanjuan Ji, Tianshu Yu, Yun Zhang, Zhilin Jiang, Jinbo Liu, Junyu Zhang, Yin Lin, Bo Gong and 1 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Human genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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0citing papers in PubMed
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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

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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

0 citing papers in PubMed.

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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

11 authors.

Chanyu Xiong *Genetic Diseases Key Laboratory of Sichuan Province, Medical Genetics and Rare Diseases Center, Department of Laboratory Medicine, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Xiao Wang *Genetic Diseases Key Laboratory of Sichuan Province, Medical Genetics and Rare Diseases Center, Department of Laboratory Medicine, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Juanjuan JiGenetic Diseases Key Laboratory of Sichuan Province, Medical Genetics and Rare Diseases Center, Department of Laboratory Medicine, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Tianshu YuGenetic Diseases Key Laboratory of Sichuan Province, Medical Genetics and Rare Diseases Center, Department of Laboratory Medicine, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Yun ZhangGenetic Diseases Key Laboratory of Sichuan Province, Medical Genetics and Rare Diseases Center, Department of Laboratory Medicine, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Zhilin JiangGenetic Diseases Key Laboratory of Sichuan Province, Medical Genetics and Rare Diseases Center, Department of Laboratory Medicine, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Jinbo LiuDepartment of Clinical Medicine, Southwest Medical University, Luzhou, China.
Junyu ZhangReproductive Medicine Center, Shanghai First Maternity and Infant Hospital, School of Medicine, Tongji University, Shanghai, China.
Yin LinGenetic Diseases Key Laboratory of Sichuan Province, Medical Genetics and Rare Diseases Center, Department of Laboratory Medicine, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Bo GongGenetic Diseases Key Laboratory of Sichuan Province, Medical Genetics and Rare Diseases Center, Department of Laboratory Medicine, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China.
Yu ZhouGenetic Diseases Key Laboratory of Sichuan Province, Medical Genetics and Rare Diseases Center, Department of Laboratory Medicine, Sichuan Provincial People's Hospital, School of Medicine, University of Electronic Science and Technology of China, Chengdu, China. zhouyu422@yahoo.com.

Funding

Chengdu Science and Technology Department 2018-YF05-01080SNNational Natural Science Foundation of China 81970825Science and Technology Department of Sichuan Province 2022JDJQ0062
6 · The paper itself

Abstract

backgroundHereditary cancers, caused by germline pathogenic variants in cancer susceptibility genes, account for 5%∼10% of malignancies globally. However, their prevalence and genetic spectrum in the Chinese population remain poorly characterized. This study aimed to investigate germline pathogenic variants in 21 cancer susceptibility genes within a Chinese cohort undergoing routine health examinations.

resultsTargeted sequencing of 21 cancer predisposition genes in 10,456 cancer-free Chinese adults (mean age 44.0 ± 10.1 years; male: 60.52%, n = 6328; female: 39.48%, n = 4128) identified pathogenic/likely pathogenic germline variants in 1.57% (164/10,456) of participants. BRCA2 (38 variants), MUTYH (29 variants), and ATM (28 variants) accounted for 58.5% of all pathogenic variants. Eight novel pathogenic variants were validated in ATM, BRCA1, BRCA2, CHEK2, MUTYH, and PALB2. Non-Han ethnic groups showed 4.56-fold higher carrier rates than Han Chinese (5.70% vs 1.25%; χ2 = 89.77, p < 0.001). Only 6.1% of variant carriers pursued genetic counseling despite 49.39% reporting family cancer history.

conclusionsThis study reveals clinically significant germline cancer predisposition in 1.57% of asymptomatic Chinese adults, with substantial ethnic disparities. Crucially, we identified eight novel pathogenic variants across six cancer susceptibility genes, all unreported in gnomAD/ClinVar and computationally predicted as deleterious. The 93.9% non-engagement in genetic counseling highlights the imperative for evidence-based interventions; including provider education initiatives to advance precision prevention.

Indexed as

Genetic Predisposition to DiseaseGerm-Line MutationNeoplasmsAdultAtaxia Telangiectasia Mutated ProteinsBRCA1 ProteinBRCA2 ProteinCheckpoint Kinase 2ChinaCohort StudiesDNA GlycosylasesEast Asian PeopleFanconi Anemia Complementation Group N ProteinFemaleHumansMaleAtaxia Telangiectasia Mutated ProteinsATM protein, humanBRCA1 ProteinBRCA1 protein, humanBRCA2 ProteinBRCA2 protein, humanCheckpoint Kinase 2CHEK2 protein, humanDNA GlycosylasesFanconi Anemia Complementation Group N ProteinmutY adenine glycosylasePALB2 protein, humanChinese populationGenetic screeningGermline variantHereditary cancer

Identifiers

PMID41327405
PMCPMC12777394

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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.