1.Effect of Shaoyao Gancaotang on Proliferation and Differentiation of Neural Stem Cells in Rats with Limb Spasticity of Cerebral Apoplexy
Runbo WU ; Chunxue MENG ; Fei WANG ; Qianxi NA ; Bin GUO
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(9):11-20
ObjectiveThis paper aims to analyze the damage degree of muscle tone in rats with spasticity of cerebral apoplexy (SCA) and the expression of Nestin and β-catenin in the M1 region of the cerebral cortex, thereby investigating the action mechanism of different doses of Shaoyao Gancaotang on rats with SCA. MethodsThe rats were randomly divided into a blank group, a model group, a positive control group (baclofen, 5.25 mg·kg-1), and low, medium, and high-dose groups of Shaoyao Gancaotang (2.1, 4.2, 8.4 g·kg-1), with nine rats in each group. A rat model with SCA was established by using a modified phrenic nerve block combined with intraventricular injection of anhydrous ethanol. Following behavioral scoring to confirm model validity, drug interventions were conducted. Neurological deficits and muscle tone were evaluated by behavioral assessments. The open field test was used to measure locomotor distance. Transmission electron microscopy was employed to examine the synaptic structures. Skeletal muscle adenosine triphosphate (ATP)ase staining was used to analyze myofibrillar changes. Hematoxylin and eosin (HE) staining was used to observe the histomorphological changes. Immunohistochemistry, Real-time polymerase chain reaction (Real-time PCR), and Western blot were employed to detect mRNA levels and protein expressions of Nestin and β-catenin in the M1 region of the cerebral cortex. ResultsCompared with the blank group, rats in the model group exhibited significantly increased neurological deficit scores (P<0.01), markedly elevated muscle tone scores (P<0.01), substantially reduced locomotor distance (P<0.01), prominent structural swelling and blurring, severe destruction of cerebral cortical cells, a significant increase in the proportion of skeletal muscle ATPase type Ⅰ fibers (P<0.01), a significant decrease in mRNA levels and protein expression of Nestin (P<0.01), and a significant increase in mRNA levels and protein expression of β-catenin (P<0.01). Compared with the model group, the Shaoyao Gancaotang group exhibited reduced neurological deficit scores and muscle tone scores in rats with SCA (P<0.01) and increased locomotor distance (P<0.01). Transmission electron microscopy revealed clearer and more intact synaptic structures in the rats from the Shaoyao Gancaotang group, with increased vesicle numbers and improved morphology. HE staining revealed intact neuronal cell structures with regular arrangement and reduced vacuolated cells in the rats from Shaoyao Gancaotang. ATPase staining result indicated a decreased proportion of type Ⅰ muscle fibers in the rats from the Shaoyao Gancaotang group (P<0.01). Real-time PCR results demonstrated increased mRNA expressions of Nestin and β-catenin in the rats from the Shaoyao Gancaotang group (P<0.01). Immunohistochemistry and western blot analyses indicated elevated protein expressions of Nestin and β-catenin in rats with SCA from the Shaoyao Gancaotang group (P<0.05, P<0.01). ConclusionShaoyao Gancaotang may improve neurological function impairment and limb spasticity in model rats with SCA by regulating the proliferation and differentiation of neural stem cells in the cerebral cortex M1 region.
2.Network meta-analysis of the efficacy and safety of dual amoxicillin-based regimens for Helicobacter pylori eradication
Ziwen SONG ; Xinmiao YUAN ; Liyuan LUO ; Yufang HE ; Lingshu YANG ; Yixu HUANG ; Jianpeng SHE ; Peihan WEI ; Sihan GUO ; Fei DUAN
China Pharmacy 2026;37(8):1074-1079
OBJECTIVE To evaluate the efficacy and safety of amoxicillin combined with proton pump inhibitor (PPI) or potassium-competitive acid blocker (P-CAB) for Helicobacter pylori (Hp) eradication. METHODS Randomized controlled trial (RCTs) on amoxicillin combined with PPI or P-CAB for Hp eradication were retrieved from PubMed, Embase, the Cochrane Library, Web of Science, CNKI, Wanfang, and VIP data. The search time frame was from database inception to September 5, 2025. After literature screening, data extraction, and quality assessment, a network meta-analysis was performed using Stata 17.0 software. RESULTS A total of 12 RCTs involving 5 515 patients were included, encompassing 8 therapeutic regimens: PPI combined with high-dose amoxicillin for 14 days (TR1), PPI combined with low-dose amoxicillin for 14 days (TR2), P-CAB combined with high-dose amoxicillin for 7 days (TR3), P-CAB combined with high-dose amoxicillin for 14 days (TR4), P-CAB combined with high-dose amoxicillin for 10 days (TR5), P-CAB combined with low-dose amoxicillin for 7 days (TR6), P-CAB combined with low-dose amoxicillin for 14 days (TR7), and P-CAB combined with low-dose amoxicillin for 10 days (TR8). The network meta-analysis results showed that, in terms of intention-to-treat Hp eradication rates, the eradication rates of TR5 and TR4 were significantly higher than those of TR3, TR8, TR6 and TR1 ( P <0.05). The surface under the cumulative ranking curve (SUCRA) values from highest to lowest were: TR4 (89.7%)>TR5 (82.3%)>TR7 (71.5%)> TR2 (48.6%)>TR1 (43.9%)>TR8 (28.7%)>TR3 (22.7%)>TR6 (12.6%). Regarding safety, the incidence of adverse reactions in TR3 and TR5 was significantly lower than that in TR1 ( P <0.05). The SUCRA values from highest to lowest were: TR1 (91.3%)>TR4 (79.8%)>TR5 (55.0%)>TR7 (50.9%)>TR8 (41.3%)>TR2 (36.4%)>TR3 (27.6%) >TR6 (17.7%). CONCLUSIONS Although the regimen of P-CAB combined with high-dose amoxicillin for 14 days demonstrates the best efficacy, the combination of P-CAB with high-dose amoxicillin for 10 days exhibits a better balanced profile in terms of both efficacy and safety.
3.Exploring CRISPR/Cas9 Technology for The Modernization of Traditional Chinese Medicine
Shu-Xian WANG ; Fei-Fei GUO ; Guang-Qiang MA
Progress in Biochemistry and Biophysics 2026;53(4):1000-1014
The clustered regularly interspaced short palindromic repeats (CRISPR)/associated protein 9 (CRISPR /Cas9) immune system is an adaptive immune system widely distributed in bacteria and archaea. It precisely defends against invasion by exogenous phages, viruses, and plasmids through sequence-specific endogenous immune response mechanisms. As the most prominent member of this family, the CRISPR/Cas9 system has evolved into the most widely applied, flexible, and efficient technical platform in the field of genome engineering due to its exceptional genome modification capabilities. Within the CRISPR/Cas9 system, the Cas9 protein, precisely guided by a single-stranded guide RNA (gRNA), can specifically recognize target DNA sequences and induce double-strand breaks. This activates the cell’s DNA repair mechanisms, enabling gene knockout, knock-in, or modification. Demonstrating significant advantages in specificity, flexibility, and operability, CRISPR/Cas9 technology has shown immense potential in the medical field, opening new avenues for modernizing traditional Chinese medicine (TCM) research. On one hand, this technology can be used to construct precise disease models and tailor personalized treatment plans. It enables in-depth elucidation of the molecular mechanisms underlying the action targets and signaling pathways of TCM formulas and active components, thereby unraveling the scientific secrets of their complex mechanisms of action. On the other hand, it demonstrates powerful tool value in improving TCM germplasm resources, identifying and screening superior varieties, evaluating the controllability of TCM quality, and producing innovative drugs, providing technical support for the standardization and precision of TCM. Simultaneously, the high-throughput omics data generated by CRISPR technology is driving artificial intelligence (AI) to construct virtual disease models and drug prediction systems. This empowers the intelligent screening of effective TCM components, the precise prediction of potential targets, and the exploration of “reducing toxicity while enhancing efficacy” through formula combinations. This synergistic innovation between CRISPR and AI aligns perfectly with precision medicine’s urgent demand for personalized, efficient drug development, injecting new momentum into the modernization and transformation of TCM. This paper first systematically reviews and explains the developmental trajectory, structural basis, and action mechanisms of the CRISPR/Cas9 system, tracing its scientific evolution from a bacterial immune system to a gene-editing tool. It then comprehensively outlines the current state of convergence between precision medicine concepts and modernization research in TCM, analyzing the synergistic points and potential spaces for their integration. Against the backdrop of rapid precision medicine advancement, this paper emphasizes how CRISPR/Cas9 gene editing technology empowers in-depth analysis of TCM mechanisms—including specific applications in disease model construction, therapeutic target validation, and multi-target network regulation studies. It further elaborates on its multidimensional practical contributions to modernizing TCM, spanning key domains such as germplasm resource innovation, bioactive compound biosynthesis, quality standardization control, and novel TCM drug development. Finally, this paper envisions the future landscape of deep integration between CRISPR technology and AI: from data-driven intelligent drug screening to high-throughput precision discovery of effective TCM components, and further to intelligent model construction based on “reducing toxicity while enhancing efficacy” mechanisms. The synergistic convergence of these multidimensional technologies will pioneer new scientific paradigms and translational pathways for TCM modernization, propelling TCM toward leapfrogging development in the era of precision medicine.
4.Pharmacodynamic Substance Basis and Mechanisms of Shangkeling Spray on Knee Osteoarthritis
Pengbo GUO ; Changhao XIAO ; Fei XIA ; Chong QIU ; Jigang WANG
Chinese Journal of Experimental Traditional Medical Formulae 2026;32(6):206-216
ObjectiveTo analyze the pharmacodynamic substance basis of Shangkeling Spray and its potential mechanisms in intervening knee osteoarthritis (KOA) using ultra-performance liquid chromatography-tandem mass spectrometry (UPLC-MS), network pharmacology, and molecular docking technology. MethodsUPLC-MS was used to identify the chemical components of Shangkeling Spray. Pharmacokinetic properties were employed to screen potential active ingredients. Network pharmacology methods were utilized to collect potential targets of these ingredients and the pathological gene set of KOA. An "active ingredient-disease" target network was constructed using databases such as STRING. Gene Ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) functional enrichment analyses were performed using clusterProfiler. Libraries including NumPy were employed to calculate shortest path lengths to identify dominant pharmacodynamic links. Core gene clusters were identified using MCODE, validated through the Gene Expression Omnibus (GEO) database, and molecular docking was performed between key active ingredients and core targets. ResultsA total of 322 and 314 chemical components were identified under positive and negative ion modes, respectively, with 410 components in total after de-duplication, mainly including flavonoids, coumarins, terpenoids, organic acids, and alkaloids. Analysis of the "active ingredient-disease" network identified "development and regeneration", "cell growth and death", "immune system", and "nervous system" as the dominant pharmacodynamic links of Shangkeling Spray in the treatment of KOA. Molecular docking showed that key active ingredients, such as bletillin A, formononetin, morin, oxymatrine, aconitine, gallic acid, curdione, apigenin, naringenin, and oleanolic acid, tightly bound to functional domains of 10 key targets including Jun proteins(JUN), interleukin-6 (IL-6), protein kinase B1 (Akt1), Caspase-3, nuclear transcription factor-κB subunit p65(RELA), nuclear factor-kappaB1(NF-κB1), Cyclin D1, mammalian target of rapamycin(mTOR), tumor necrosis factor (TNF), and Fos proto-oncogene protein (FOS). These interactions synergistically regulated the phosphatidylinositol 3-kinase (PI3K)/Akt/mTOR-related signaling axis and nervous system-related pathways, mediating cartilage repair, reducing inflammation and pain, and improving KOA. ConclusionThis study preliminarily clarifies the pharmacodynamic substance basis of Shangkeling Spray and suggests that its main active ingredients may improve KOA by synergistically regulating the PI3K/Akt/mTOR-related pathways, providing a reference for subsequent exploration of its substance benchmark and mechanism of action.
5.Efficacy of modified Wendan Decoction combined with antipsychotic drugs in the treatment of schizophrenia and its impact on patients' cognitive function: a Meta-analysis
Jiaxuan YUAN ; Fei GUO ; Chen ZHAO ; Ailing DU ; Yongxin CHEN ; Shichang YANG
Sichuan Mental Health 2026;39(2):183-192
BackgroundSchizophrenia, as a common chronic mental disorder, although second-generation antipsychotic drugs have shown significant efficacy in alleviating positive symptoms, the widespread cognitive dysfunction among patients remains a challenge in clinical treatment. Traditional Chinese medicine has unique advantages in the treatment of mental disorders. However, the current clinical research on the combination of Wendan Decoction and antipsychotic drugs for schizophrenia varies in quality, and there is a lack of systematic reviews evaluating its effects on cognitive improvement and safety. ObjectiveTo systematically evaluate the effects of modified Wendan Decoction combined with antipsychotic drugs on schizophrenia symptoms and cognitive improvement, providing evidence-based support for the clinical application of Wendan Decoction. MethodsLiterature searches were conducted in China National Knowledge Infrastructure (CNKI), Wanfang Data, VIP Information, China Biomedical Literature Service System, China Clinical Trial Registry, PubMed, Web of Science, the Cochrane Library, and Embase to collect randomized controlled trials (RCTs) of modified Wendan Decoction combined with antipsychotic drugs for the treatment of schizophrenia. The search period was from the establishment of the databases to March 19, 2026. The quality of the included literature was evaluated using the Cochrane 6.3. Meta-analysis was performed using RevMan 5.3 software. ResultsA total of 11 studies were included, involving 1 130 patients with schizophrenia. Among them, 566 cases were in the study group (receiving modified Wendan Decoction combined with antipsychotic drugs), and 564 cases were in the control group (receiving antipsychotic drugs only). Meta-analysis showed that the effective rate of improvement in psychotic symptoms in the study group was higher than that in the control group (RR=1.21,95% CI: 1.15–1.27, P<0.01). In terms of psychotic symptoms, the Positive and Negative Symptom Scale (PANSS) positive symptom score (MD=-3.69, 95% CI: -5.87–-1.51, P<0.01) and PANSS total score (MD=-9.20, 95% CI: -11.80–-6.59, P<0.01) of the study group were lower than those of the control group. In cognitive function assessments, the Mini-Mental State Examination (MMSE) score (MD=2.51, 95% CI: 1.33–3.68, P<0.01) and the Loewenstein Occupational Therapy Cognitive Assessment (LOTCA) score (MD=11.85, 95% CI: 2.55–21.15, P=0.010) of the study group were higher than those of the control group, and the Wisconsin Card Sorting Test (WCST) score was lower than that of the control group (MD=-9.34, 95% CI: -12.57–-6.11, P<0.01). The levels of brain-derived neurotrophic factor (BDNF) (SMD=1.34, 95% CI: 0.63–2.05, P<0.01) and nerve growth factor (NGF) (MD=6.94, 95% CI: 4.00–9.89, P<0.01) of the study group were higher than those of the control group. In terms of safety, there was no statistically significant difference in the incidence of adverse reactions between the two groups (RR=0.60, 95% CI: 0.31–1.18, P=0.14). ConclusionThe modified Wendan Decoction combined with antipsychotic drugs may be more effective than antipsychotic drugs alone in improving positive symptoms and cognitive function in patients with schizophrenia, and it also exerts a favorable neurotrophic regulatory effect. [Funded by Postgraduate Education Reform and Quality Improvement Project of Henan Province (number, YJS2023AL060); Key Scientific Research Projects of Higher Education Institutions in Henan Province (number, 24B320018, 25B310004)]
6.Research Progress on Animal Models for Hernia Diseases and New Hernia Repair Materials
Bin FEI ; Wenke GUO ; Jianping GUO
Laboratory Animal and Comparative Medicine 2025;45(1):55-66
Hernia is a common and frequently occurring condition in general surgery, referring to the displacement of an organ or part of an organ from its normal anatomical position through a congenital or acquired weak point, defect, or space into another area. Its pathogenesis is complex, involving multiple factors such as abdominal wall weakness or increased intra-abdominal pressure. The clinical manifestations of hernia vary depending on its type, location, and severity. As the aging of the population continues to advance, the incidence of hernia has been increasing annually. Animal models serve as an important tool in hernia research. They enable the evaluation of the safety and efficacy of new repair materials and techniques, as well as assisting clinicians in developing new surgical methods and investigating the mechanisms and novel therapies for certain hernia diseases and their complications. Given the significant differences in the pathophysiological mechanisms of different types of hernia diseases, the methods and evaluation criteria for establishing animal models are highly diverse. Furthermore, the methods for establishing animal models are closely related to experimental objectives, and different experimental goals require different animal models. Therefore, selecting appropriate animal models based on experimental objectives is crucial for ensuring the smooth progress of research and obtaining reliable results. To this end, this review summarizes effective methods for establishing animal models for external abdominal hernias (including incisional hernia, inguinal hernia, umbilical hernia, parastomal hernia, incarcerated hernia, and pelvic floor hernia), congenital diaphragmatic hernia, hiatal hernia, and cerebral hernia. It provides a detailed analysis of the advantages, disadvantages, and evaluation criteria of these models. Additionally, this review summarizes recent preclinical applications of new hernia repair materials, aiming to provide references for animal experimental research in the field of hernia studies.
7.Analysis of syncopal DRVR in blood donors: multicenter hemovigilance data (2020—2023)
Junhong YANG ; Qing XU ; Wenqin ZHU ; Fei TANG ; Ruru HE ; Zhenping LU ; Zhujiang YE ; Fade ZHONG ; Gang WU ; Guoqiang FENG ; Xiaojie GUO ; Jia ZENG ; Xia HUANG
Chinese Journal of Blood Transfusion 2025;38(8):1071-1076
Objective: Data on syncopal donation-related vasovagal reaction (DRVR) collected from 74 blood centers between 2020 and 2023 was statistically analyzed to provide a reference for developing preventive strategies against syncopal DRVR. Methods: Data on blood donation adverse reactions and basic information of donors from 2020 to 2023 were collected through the information management system at monitoring sentinel sites. Statistical analysis was performed on the following aspects of syncopal DRVR: characteristics of donors who experienced syncope, reported incidence, triggers, duration, presence and occurrence time of syncope-related trauma, clinical management including outpatient and inpatient treatment, and severity grading. Results: From 2020 to 2023, 45 966 donation-related adverse reactions were recorded. Of these, 1 665 (3.72%) cases were syncopal DRVR. The incidence of syncopal DRVR decreased with age, being the highest in the 18-22 age group. Incidence was significantly higher in female donors than male donors, in first-time donors than repeat donors, and in university and individual donors than group donors (all P<0.05). There was no statistically significant difference among different blood donation locations (P>0.05). The top three triggers were tension, fatigue, and needle phobia or fear of blood. Among syncopal DRVR cases, 60.36% occurred during blood collection, 87.63% lasted for less than 60 seconds, and 5.05% were accompanied by trauma. Notably, 57.14% of these traumas occurred after donor had left the blood collection site. Syncope severity was graded based on required treatment: grade 1 (fully recovered without treatment, 95.50%); grade 2 (recovered after outpatient treatment, 4.02%); and grade 3 (recovered after inpatient treatment, 0.48%). Conclusion: By analyzing the data of syncopal DRVR cases, it is possible to provide a reference for formulating blood donor safety policies.
8.Study on the epidemiological characteristics and influencing factors of long COVID among previously infected individuals in two communities in Shanghai
Junhong YUE ; Chen CHEN ; Qingqing JIA ; Xiaoxia LIU ; Huiting WANG ; Fei WU ; Yanlu YIN ; Jiajie ZANG ; Yanfei GUO ; Fan WU
Shanghai Journal of Preventive Medicine 2025;37(7):597-605
ObjectiveTo analyze the epidemiological characteristics of long COVID and to investigate its main influencing factors by examining individuals infected with SARS-CoV-2 between March and June 2022 in two communities in Shanghai, to lay the foundation for further research on the mechanism and clinical treatment of long COVID, and to provide the basis for the development of inexpensive, convenient, and feasible prevention and intervention strategies. MethodsA cross-sectional study was conducted, enrolling 6 410 individuals infected with SARS-CoV-2. Data were collected through a questionnaire survey. The incidence and common symptoms of long COVID were analyzed, along with their associations with demographic characteristics, medical history, and behavioral factors. A logistic regression model was used to identify the major factors associated with the development of long COVID symptoms. ResultsThe overall incidence rate of long COVID among the study population was 13.9%. The most commonly reported symptoms included fatigue (65.1%), attention disorders (23.1%), and cough (16.9%). The analysis showed that having underlying chronic diseases (OR=2.580, 95%CI: 2.165‒3.074), a history of allergies (OR=1.418, 95%CI: 1.003‒1.971), current smoking (OR=1.461, 95%CI: 1.013‒2.079), ever smoking (OR=2.462, 95%CI: 1.687‒3.551), a greater number of symptoms during the acute phase [1 symptom (OR=1.778, 95%CI: 1.459‒2.162), 2 symptoms (OR=2.749, 95%CI: 2.209‒3.409), ≥3 symptoms (OR=7.792, 95%CI: 6.333‒9.593)] and aggravated symptoms during the acute phase (OR=1.082, 95%CI: 1.070‒1.094) were factors associated with a higher risk of developing long COVID symptoms. Additionally, individuals who had consumed alcohol in the past year (OR=1.914, 95%CI: 1.344‒2.684) were more prone to objective long COVID symptoms. Among individuals under 50 years of age, females (OR=1.427, 95%CI: 1.052‒1.943) were more likely to develop objective long COVID symptoms. ConclusionThis study has identified the diversity of long COVID symptoms, which involve multiple organs and systems, including fatigue, attention disorders, cough, and joint pain. It has also revealed associations between long COVID and various demographic factors (e.g., age, gender), personal medical history (e.g., underlying chronic diseases, history of allergies), acute-phase characteristics (e.g., number and severity of symptoms), and behavioral factors (e.g., smoking, alcohol consumption). These findings highlight the need for further research and ongoing surveillance of long COVID and may inform the development of more targeted health management strategies for specific populations.
9.Comparative analysis of characteristics and functions of exosomes from human induced pluripotent stem cell-derived platelets and apheresis platelets
Weihua HUANG ; Yan ZANG ; Aihua QIN ; Ziyang FENG ; Heshan TANG ; Fei GUO ; Chuyan WU ; Qiu SHEN ; Baohua QIAN ; Haihui GU ; Zhanshan CHA
Chinese Journal of Blood Transfusion 2025;38(9):1154-1161
Objective: To compare the biological characteristics of human induced pluripotent stem cell-derived platelet exosomes (hiPSC-Plt-Exos) with those of conventional apheresis platelet exosomes (Plt-Exos), specifically focusing on their differential abilities to enhance the proliferation and migration of human umbilical cord mesenchymal stem cells (hUC-MSCs). Methods: Exosomes were isolated from hiPSC-derived Plt and apheresis Plt concentrate using size exclusion chromatography. These exosomes were then characterized through nanoparticle tracking analysis (NTA), transmission electron microscopy (TEM), and Western blotting. Co-culture experiments into hUC-MSCs were conducted with hiPSC-Plt-Exos and apheresis Plt-Exos, respectively. Their effects on the proliferation and migration of hUC-MSCs were assessed via cell proliferation assays and scratch tests. Results: hiPSC-Plt-Exos and apheresis Plt-Exos exhibited comparable particle sizes, morphological features (such as the characteristic cup-shaped structure), and surface markers (including CD9 and HSP70). Notably, hiPSC-Plt-Exos demonstrated a significantly greater ability to enhance the proliferation and migration of hUC-MSCs compared to apheresis Plt-Exos (P<0.05). These differences provide critical comparative data for their application in various clinical contexts. Conclusion: This study establishes a theoretical foundation for developing precise therapeutic strategies based on hiPSC-Plt-Exos. Furthermore, it underscores the necessity of selecting the appropriate type of exosomes according to the specific disease microenvironment to achieve optimal therapeutic outcomes.
10.Genetic detection for hereditary cancer syndrome among general population
Xinning CHEN ; Li ZHANG ; Li YU ; Huiqin JIANG ; Fei HUANG ; Chunyan ZHANG ; Baishen PAN ; Beili WANG ; Wei GUO
Chinese Journal of Clinical Medicine 2025;32(4):627-633
Objective To examine the significance of susceptible gene detection for hereditary cancer syndrome (HCS) among general population. Methods A total of 2 928 individuals undergoing routine health examinations in Healthcare Center of Zhongshan Hospital, Fudan University, from September 2021 to April 2024 were enrolled retrospectively. Next generation sequencing was employed to identify susceptible genes for HCS. American College of Medical Genetics and Genomics (ACMG) guideline was used to analyze the pathogenicity of variants. Clinical data, imagings, follow-up data were also collected. Results The overall mutation rate of HCS panel was 3.59% (105/2 928), with 0.61% (18/2 928) for MutY DNA glycosylase (MUTYH), 0.27% (8/2 928) for breast cancer susceptibility gene 1/2 (BRCA1/2) and 0.23% (7/2 928) for mismatch repair (MMR) genes. Conclusions Healthy individuals carrying tumor susceptible genes usually lack the relevant clinical phenotypes. Whether comprehensive testing needs to be carried out among healthy people remains to be further explored.

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