期刊文献+
共找到14篇文章
< 1 >
每页显示 20 50 100
论“胃家实”本质 被引量:6
1
作者 郭任 《河南中医》 2010年第1期26-28,共3页
"胃家实"反映了阳明病"胃肠邪热亢盛"、"里实燥结、腑气不通"的病变特点。由于胃肠功能障碍,经络失调,升降紊乱,气血津液受损,使病邪深入机体,毒壅血络,燥热亢极,充斥全身内外,形成"胃家实"。... "胃家实"反映了阳明病"胃肠邪热亢盛"、"里实燥结、腑气不通"的病变特点。由于胃肠功能障碍,经络失调,升降紊乱,气血津液受损,使病邪深入机体,毒壅血络,燥热亢极,充斥全身内外,形成"胃家实"。此时,因肠粘膜屏障损害,机体免疫功能下降,引发多种炎性介质过量释放和炎症细胞过度激活,产生一系列连锁反应,致SIRS。SIRS伴有严重感染的则称为脓毒症(sepsis)。因而,"胃家实"本质即是指胃肠功能失调,是导致SIRS的根本原因。 展开更多
关键词 “胃实” 肠功能障碍 阳明经脉失调 肠道屏障损伤 细菌移位 大承气汤 全身炎症反应综合征 《伤寒论》
下载PDF
伤寒论评话 第30章 胃家实者有实邪日晡潮热病欲解——阳明病总论(一) 被引量:3
2
作者 梁华龙 《中医学报》 CAS 2014年第6期725-728,共4页
①"胃家",既包括了阳明经,也包括了阳明腑;既包含了足阳明胃,也包含了手阳明大肠,所以胃家实,是邪气实,邪气实不仅仅是热邪,也包括了寒邪、湿邪等等。②阳明病可自他经传来,尤其是太阳病、少阳病等皆可传变至阳明病。而阳明... ①"胃家",既包括了阳明经,也包括了阳明腑;既包含了足阳明胃,也包含了手阳明大肠,所以胃家实,是邪气实,邪气实不仅仅是热邪,也包括了寒邪、湿邪等等。②阳明病可自他经传来,尤其是太阳病、少阳病等皆可传变至阳明病。而阳明病本身存在着"经传"情况,即邪气自他经而至,可从阳明经传变至阳明腑而成阳明腑实证,原文称之为"过经",即过阳明之经而到阳明之腑。③"发潮热"是阳明病"欲解"的前提和条件,阳明病的欲解是发潮热的一种结果。但由于病情的千变万化,因人、因时等的不同,不是每一个阳明病病人,或者每一次阳明病欲解都要经过发潮热;同样也并不是发潮热就一定会出现欲解的结果。④"固瘕"病的形成是肠热胃寒所指,肠热耗尽,胃寒津不化,所以出现大便先硬后溏,其肠热为实热,胃寒为实寒,治疗应该清肠热祛胃寒。 展开更多
关键词 阳明病 “胃家” “发潮热” “欲解” “固瘕” 《伤寒论》 张仲景
下载PDF
非“胃家实”者不可以阳明病论治 被引量:2
3
作者 刘潇蔚 张欣 +1 位作者 蒋谦 王宁 《中医学报》 CAS 2022年第10期2092-2095,共4页
《伤寒论》论述的阳明病与《黄帝内经》中阳明经主凉、主燥的特点相符。阳明病的提纲证为“胃家实”,然而现代教材和部分医家将仅具有“身热,汗自出,不恶寒反恶热”的阳明病外证表现,但不具备“胃家实”表现的病证认为是阳明病,这是错... 《伤寒论》论述的阳明病与《黄帝内经》中阳明经主凉、主燥的特点相符。阳明病的提纲证为“胃家实”,然而现代教材和部分医家将仅具有“身热,汗自出,不恶寒反恶热”的阳明病外证表现,但不具备“胃家实”表现的病证认为是阳明病,这是错误的观点。诊断阳明病需要具备“胃家实”的症状表现,“胃家实”无论是“寒实”还是“热实”皆可。正确认识阳明病对现代外感热病的诊治具有重要的指导意义。 展开更多
关键词 “胃实” 阳明病 外感热病 《伤寒论》 《黄帝内经》
下载PDF
Loss of FHIT expression in gastric mucosa of patients with family histories of gastric cancer and Helicobacter pylori infection 被引量:17
4
作者 Krystyna Stec-Michalska Slawomir Antoszczyk +1 位作者 Grazyna Klupinska Barbara Nawrot 《World Journal of Gastroenterology》 SCIE CAS CSCD 2005年第1期17-21,共5页
AIM: To answer the question whether FHIT gene expression is affected by the family history of gastric carcinoma and the presence of Helicobacter pylori (Hpylori) in the gastric mucosa of patients with dyspepsia.METHOD... AIM: To answer the question whether FHIT gene expression is affected by the family history of gastric carcinoma and the presence of Helicobacter pylori (Hpylori) in the gastric mucosa of patients with dyspepsia.METHODS: FHIT gene expression in two different topographic sites of the gastric mucosa of twenty-one patients with dyspepsia and with or without familial gastric carcinoma, infected or not infected with H pylori, was evaluated by reverse transcription-PCR (RT-PCR) and IMAGE QUANT methods. A rapid urease test and histopathological examination were used to determine H pylori colonization.RESULTS: In the gastric mucosa of patients with family histories of gastric carcinoma, the amount of FHIT protein mRNA was reduced down to 32%, and for patients with H pylori colonization, to 24% in comparison to controls with dyspepsia and without cancer in the family. FHIT expression was independent of the topography of specimens (corpus vsantrum), and for the control patients it was less sensitive to infection with H pylori. A considerable statistical difference in FHIT levels was observed in the gastric mucosa from the corpus of patients with family histories of gastric carcinoma in respect to H pylori colonization (P = 0.06). Macroscopic evaluation of the gastric mucosa demonstrated that pathologic changes classified according to the Sydney system had no significant influence on FHIT expression within each tested group of patients.CONCLUSION: Loss of FHIT expression was observed in patients with dyspepsia and family histories of gastric carcinoma, especially those infected with H pylori. Such results may constitute an early indication of the development of gastric carcinoma, which is associated with family factors including heredity and H pylori infection. The loss of the FHIT gene may serve as a marker for early diagnosis and prevention of gastric carcinoma, especially in context of early monitoring of H pylori infection in individuals with a record of familial stomach cancer. 展开更多
关键词 Gastric cancer Helicobacter pylori infection FHIT protein
下载PDF
Gastroenterology in developing countries:Issues and advances 被引量:9
5
作者 Kate L Mandeville Justus Krabshuis +3 位作者 Nimzing Gwamzhi Ladep Chris JJ Mulder Eamonn MM Quigley Shahid A Khan 《World Journal of Gastroenterology》 SCIE CAS CSCD 2009年第23期2839-2854,共16页
Developing countries shoulder a considerable burden of gastroenterological disease. Infectious diseases in particular cause enormous morbidity and mortality. Diseases which afflict both western and developing countrie... Developing countries shoulder a considerable burden of gastroenterological disease. Infectious diseases in particular cause enormous morbidity and mortality. Diseases which afflict both western and developing countries are often seen in more florid forms in poorer countries. Innovative techniques continuously improve and update gastroenterological practice. However, advances in diagnosis and treatment which are commonplace in the West, have yet to reach many developing countries. Clinical guidelines, based on these advances and collated in resource-rich environments, lose their relevance outside these settings. In this two-part review, we first highlight the global burden of gastroenterological disease in three major areas: diarrhoeal diseases, hepatitis B, and Helicobacter pylori. Recent progress in their management is explored, with consideration of future solutions. The second part of the review focuses on the delivery of clinical services in developing countries. Inadequate numbers of healthcare workers hamper efforts to combat gastroenterological disease. Reasons for this shortage are examined, along with possibilities for increased specialist training. Endoscopy services, the mainstay of gastroenterology in the West, are in their infancy in many developing countries. The challenges faced by those se^ing up a service are illustrated by the example of a Nigerian endoscopy unit. Finally, we highlight the limited scope of many clinical guidelines produced in western countries. Guidelines which take account of resource limitations in the form of "cascades" are advocated in order to make these guidelines truly global. Recognition of the different working conditions facing practitioners worldwide is an important step towards narrowing the gap between gastroenterology in rich and poor countries. 展开更多
关键词 Helicobacter pylori Developing countries Gastrointestinal diseases Health care delivery Practice guidelines
下载PDF
Comparison of patients by family history with gastric and non-gastric cancer 被引量:2
6
作者 Xue-Fu Zhou Yu-Long He Wu Song Jian-Jun Peng Chang-Hua Zhang Wen Li Hui Wu 《World Journal of Gastroenterology》 SCIE CAS CSCD 2009年第21期2644-2650,共7页
AIM:To compare the gastric cancer(GC) patients by their family history with gastric and non-GC.METHODS:Positive family histories within seconddegree relatives and clinicopathological features were obtained for 256 pat... AIM:To compare the gastric cancer(GC) patients by their family history with gastric and non-GC.METHODS:Positive family histories within seconddegree relatives and clinicopathological features were obtained for 256 patients.RESULTS:Of the 256 probands,112(76 male,36 female) were incorporated into familial GC(FGC) group:at least two GC members;144(98 male,46 female) were included in the non-FGC group(relatives only affected with non-GCs).Of 399 tumors in relatives(181 from FGC against 212 from non-FGC),GC was the most frequent,followed by esophageal,hepatocellular,and colorectal cancer.Nasopharyngeal cancer was next to lung cancer but prior to breast and urogenital cancers.Most affected members aggregated within first-degree relatives(FGC:66 siblings,48 fathers,31 mothers,four offspring;non-FGC:56 fathers,55 siblings,43 mothers,and 15 offspring).The ratio of males to females in affected first-degree relatives was usually higher in male probands.Paternal history of GC was a slight risk for GC in males(OR = 1.19,95% CI:0.53-2.69),while risk of GC by maternal history of non-GCs was increased in females(OR = 0.46,95% CI:0.22-0.97).Diffuse-GC was the major histological type in all subgroups.Difference in tumor sites between thetwo groups was derived from an excess of upper sites in non-FGC female probands.CONCLUSION:Distribution of associated non-GCs in a family history of GC may vary with geographic areas.GC may have different genetic and/or environmental etiology in different families,and a certain subtype may be inherited in a female-influenced fashion. 展开更多
关键词 Gastric cancer Family history Familialgastric cancer Familial predisposition Female-influencedfashion
下载PDF
Diagnosis of gastric epithelial neoplasia:Dilemma for Korean pathologists 被引量:2
7
作者 Joon Mee Kim Mee-Yon Cho +22 位作者 Jin Hee Sohn Dae Young Kang Cheol Keun Park Woo Ho Kim So-Young Jin Kyoung Mee Kim Hee Kyung Chang Eunsil Yu Eun Sun Jung Mee Soo Chang Jong Eun Joo Mee Joo Youn Wha Kim Do Youn Park Yun Kyung Kang Sun Hoo Park Hye Seung Han Young Bae Kim Ho Sung Park Yang Seok Chae Kye Won Kwon Hee Jin Chang The Gastrointestinal Pathology Study Group of Korean Society of Pathologists 《World Journal of Gastroenterology》 SCIE CAS CSCD 2011年第21期2602-2610,共9页
The histopathological diagnosis of gastric mucosal biopsy and endoscopic mucosal resection/endoscopic submucosal dissection specimens is important,but the diagnostic criteria,terminology,and grading system are not the... The histopathological diagnosis of gastric mucosal biopsy and endoscopic mucosal resection/endoscopic submucosal dissection specimens is important,but the diagnostic criteria,terminology,and grading system are not the same in the East and West.A structurally invasive focus is necessary to diagnose carcinoma for most Western pathologists,but Japanese pathologists make a diagnosis of cancer based on severe dysplastic cytologic atypia irrespective of the presence of invasion.Although the Vienna classification was introduced to reduce diagnostic discrepancies,it has been difficult to adopt due to different concepts for gastric epithelial neoplastic lesions.Korean pathologists experience much difficulty making a diagnosis because we are influenced by Japanese pathologists as well as Western medicine.Japan is geographically close to Korea,and academic exchanges are active.Additionally,Korean doctors are familiar with Western style medical terminology.As a result,the terminology,definitions,and diagnostic criteria for gastric intraepithelial neoplasia are very heterogeneous in Korea.To solve this problem,the Gastrointestinal Pathology Study Group of the Korean Society of Pathologists has made an effort and has suggested guidelines for differential diagnosis:(1) a diagnosis of carcinoma is based on invasion;(2) the most important characteristic of low grade dysplasia is the architectural pattern such as regular distribution of crypts without severe branching,budding,or marked glandular crowding;(3) if nuclear pseudostratification occupies more than the basal half of the cryptal cells in three or more adjacent crypts,the lesion is considered high grade dysplasia;(4) if severe cytologic atypia is present,careful inspection for invasive foci is necessary,because the risk for invasion is very high;and(5) other structural or nuclear atypia should be evaluated to make a final decision such as cribriform pattern,papillae,ridges,vesicular nuclei,high nuclear/cytoplasmic ratio,loss of nuclear polarity,thick and irregular nuclear membrane,and nucleoli. 展开更多
关键词 Intraepithelial neoplasia Stomach DYSPLASIA ADENOMA Carcinoma Japanese Western Consensus VIENNA
下载PDF
Family history of cancer in Chinese gastric cancer patients 被引量:2
8
作者 Binbin Wang Zhijuan Li +3 位作者 Caigang Liu Huimian Xu Feng Jin Ping Lu 《The Chinese-German Journal of Clinical Oncology》 CAS 2010年第6期321-326,共6页
Objective:The aim of the study was to investigate the influence of gastric cancer family history in the gastric cancer (GC) patients. Methods: Gastric cancer family histories within second degree relatives and clinico... Objective:The aim of the study was to investigate the influence of gastric cancer family history in the gastric cancer (GC) patients. Methods: Gastric cancer family histories within second degree relatives and clinicopathological features were obtained for 497 patients. Results:Of the 497 probands,235 probands were incorporated into familial gastric cancer (FGC) group (there were at least two GC members in the family); 262 probands were included in the non-FGC group (relatives only affected with non-GCs). Of 614 tumors in relatives,GC was the most frequent,followed by lung cancer,esophageal cancer,hepatocellular cancer,colorectal cancer,urogenital cancer,breast cancer,and pancreatic cancer. Most affected members aggregated within first-degree relatives. The ratio of males to females in affected first-degree relatives was usually higher in male probands. Paternal history of GC was a strong risk for GC in males,while risk of GC by maternal history of GCs was increased in females. Difference in tumor histological types between the two groups was derived from an excess of diffuse GC in non-FGC male probands. The lower site was the most frequent tumor location in all subgroups. Conclusion:Distribution of associated non-GCs in a family history of GC may vary with geographic areas. GC may have different genetic and/or environmental etiology in different families,and a certain subtype may be inherited in a male-influenced fashion. 展开更多
关键词 gastric cancer (GC) family history familial gastric cancer (FGC) familiar predisposition male-influenced fashion
下载PDF
What is the quantitative risk of gastric cancer in the first-degree relatives of patients? A meta-analysis 被引量:15
9
作者 Mohammad Yaghoobi Julia McNabb-Baltar +1 位作者 Raheleh Bijarchi Richard H Hunt 《World Journal of Gastroenterology》 SCIE CAS 2017年第13期2435-2442,共8页
AIMTo quantify the risk of gastric cancer in first-degree relatives of patients with the cancer.METHODSA comprehensive literature search was performed. Case-control trials comparing the frequency of a positive family ... AIMTo quantify the risk of gastric cancer in first-degree relatives of patients with the cancer.METHODSA comprehensive literature search was performed. Case-control trials comparing the frequency of a positive family history of gastric cancer in patients with gastric cancer, vs non-gastric cancer controls were retrieved. Studies with missed or non-extractable data, studies in children, abstracts, and duplicate publications were excluded. A meta-analysis of pooled odd ratios was performed using Review Manager 5.0.25. We performed subgroup analysis on Asian studies and a sensitivity analysis based on the quality of the studies, type of the outcome, sample size, and whether studies considered only first-degree relatives.RESULTSThirty-two relevant studies out of 612 potential abstracts (n = 80690 individuals) were included. 19.0% of the patients and 10.9% of the controls had at least one relative with gastric cancer (P < 0.00001). The pooled relative risk for the development of gastric cancer in association with a positive family history was 2.35 (95%CI: 1.96-2.81). The Cochran Q test for heterogeneity was positive (P < 0.00001, I² = 92%). After excluding the three outlier studies with the highest relative risks, heterogeneity remained significant (P < 0.00001, I² = 90%). The result was not different among Asian studies as compared to others and remained robust in several sensitivity analyses. In the 26 studies which exclusively analysed the history of gastric cancer in first-degree relatives, the relative risk was 2.71 (95%CI: 2.08-3.53; P < 0.00001).CONCLUSIONIndividuals with a first-degree relative affected with gastric cancer have a risk of about 2.5-fold for the development of gastric cancer. This could be due to genetic or environmental factors. Screening and preventive strategies should be developed for this high-risk population. 展开更多
关键词 Gastric cancer RISK RELATIVES Family history META-ANALYSIS
下载PDF
Comparison of Cancer Incidence between China and the USA 被引量:10
10
作者 Yong-chuan Wang Li-juan Wei +2 位作者 Jun-tian Liu Shi-xia Li Qing-sheng Wang 《Clinical oncology and cancer researeh》 CAS CSCD 2012年第2期128-132,共5页
Objective The incidence of cancer varies around the globe,especially between less-developed and developed regions.The aim of this study is to explore differences in cancer incidence between China and the USA. Methods ... Objective The incidence of cancer varies around the globe,especially between less-developed and developed regions.The aim of this study is to explore differences in cancer incidence between China and the USA. Methods Data were obtained from the GLOBOCAN 2008 database.Estimated numbers of new cancer cases in the USA were obtained from the American Cancer Society,while the numbers of cases in China,including those in urban and rural areas,were obtained from 36 cancer registries(2003-2005).Cancer incidence for major sites between China and the USA were analyzed. Results In China,lung cancer was the predominant type of cancer detected in males;in females,breast cancer was the main type of cancer.Gastrointestinal cancers,such as those of the liver,stomach,and esophagus,were more commonly seen in China than in the USA.A significant difference in the incidence of melanoma of the skin was observed between China and the USA.During comparison of differences in the age-standardized rates by world population(ASRWs) of major cancer sites between the two countries,4 sites in males(i.e.,nasopharynx,esophagus,stomach,and liver) and 6 sites in females(i.e.,nasopharynx,esophagus,stomach,liver, gallbladder,and cervix uteri) showed higher cancer incidence rates in China than in the USA. Conclusions Significant differences in cancer incidence sites were found between the two countries.Cancer may be prevented through public education and awareness.Programs to promote cancer prevention in China,especially those of the lung,breast,and gastrointestinal region,must also be implemented. 展开更多
关键词 NEOPLASMS EPIDEMIOLOGY China USA
下载PDF
Diagnosis and treatment of Gardner syndrome with gastric polyposis: A case report and review of the literature 被引量:10
11
作者 Guo-Li Gu Shi-Lin Wang +1 位作者 Xue-Ming Wei Li Bai 《World Journal of Gastroenterology》 SCIE CAS CSCD 2008年第13期2121-2123,共3页
Gardner syndrome (GS) is an autosomal dominant disease characterized by the presence of colonic polyposis, osteoma and soft tissue tumors. It is regarded as a clinical subgroup of familial adenomatous polyposis (FAP) ... Gardner syndrome (GS) is an autosomal dominant disease characterized by the presence of colonic polyposis, osteoma and soft tissue tumors. It is regarded as a clinical subgroup of familial adenomatous polyposis (FAP) and may present at any age from 2 mo to 70 years with a variety of symptoms, either colonic or extracolonic. We present a case of a 23-year-old female patient with GS who presented with gastric polyposis and was successively treated with restorative proctocolectomy in combination with ileal pouch anal anastomosis (RPC/ IPAA), ileostomy, ileostomy closure operation, snare polypectomy during 8 mo. After operation, the patient took oral traditional Chinese medicine pills made of Fructus mume and Bombyx batryticatu for about 6 mo. The innutrition and anaemia of this patient were gradually improved. Gastroscopy showed that the remnant gastric polypi gradually decreased and finally disappeared 19 mo after the first operation. The patient had 2-3 times of solid stool per day at the time we wrote this paper. 展开更多
关键词 Gardner syndrome Familial adenomatous polyposis COLECTOMY Ileal pouch anal anastomosis Stomach polyposis Hereditary nonpolyposis colorectalcancer
下载PDF
Optimization of GERD Therapeutic Regimen Based on ANN and Realization of MATLAB
12
作者 Wei-Wu WANG Rui-Qing NI +2 位作者 Fang-Yan YU Guo-Feng LOU Cai-Dan ZHAO 《Digital Chinese Medicine》 2018年第1期47-55,共9页
Objective To optimize therapeutic regimens for gastro-esophageal reflux disease(GERD),artificial neural networks(ANNs)are used to simulate and set up an intelligent traditional Chinese medicine(TCM)treatment system.Me... Objective To optimize therapeutic regimens for gastro-esophageal reflux disease(GERD),artificial neural networks(ANNs)are used to simulate and set up an intelligent traditional Chinese medicine(TCM)treatment system.Methods ANNs were employed for machine learning;the clinical syndrome differentiation and treatment determination were simulated through systematic learning of therapeutic regimens for GERD symptoms in the ancient literature;and case simulation was conducted to achieve objective verification.Results The conformity of machinery prescription with the ancient literature exceeded95%.Conclusion The application of machine learning to TCM intelligent prescription is feasible and worthy of further study. 展开更多
关键词 Artificial intelligence TCM expert system Gastro-esophageal reflux disease Artificial neural network MATLAB
下载PDF
Gastric angiodysplasia in a hereditary hemorrhagic telangiectasia type 2 patient 被引量:1
13
作者 Minsu Ha Yoon Jae Kim +5 位作者 Kwang An Kwon Ki Baik Hahm Mi-Jung Kim Dong Kyu Kim Young Jae Lee S Paul Oh 《World Journal of Gastroenterology》 SCIE CAS CSCD 2012年第15期1840-1844,共5页
Hereditary hemorrhagic telangiectasia(HHT)is a rare autosomal-dominantly inherited disease that occurs in approximately one in 5000 to 8000 people.Clinical diagnosis of HHT is made when a person presents three of the ... Hereditary hemorrhagic telangiectasia(HHT)is a rare autosomal-dominantly inherited disease that occurs in approximately one in 5000 to 8000 people.Clinical diagnosis of HHT is made when a person presents three of the following four criteria:family history,recurrent nosebleeds,mucocutaneous telangiectasis,and arteriovenous malformations(AVM)in the brain,lung,liver and gastrointestinal(GI)tract.Although epistaxis is themost common presenting symptom,AVMs affecting the lungs,brain and GI tract provoke a more serious outcome.Heterozygous mutations in endoglin,activin receptor-like kinase 1(ACVRL1;ALK1),and SMAD4,the genes involved in the transforming growth factor-βfamily signaling cascade,cause HHT.We report here the case of a 63 year-old male patient who presented melena and GI bleeding episodes,proven to be caused by bleeding from multiple gastric angiodysplasia.Esophagogastroduodenoscopy revealed multiple angiodysplasia throughout the stomach.Endoscopic argon plasma coagulation was performed to control bleeding from a gastric angiodysplasia.The patient has been admitted several times with episodes of hemoptysis and hematochezia.One year ago,the patient was hospitalized due to right-sided weakness,which was caused by left basal ganglia hemorrhage as the part of HHT presentation.In family history,the patient's mother and elder sister had died,due to intracranial hemorrhage,and his eldest son has been suffered from recurrent epistaxis for 20 years.A genetic study revealed a mutation in exon 3 of ALK1(c.199C>T;p.Arg67Trp)in the proband and his eldest son presenting epistaxis. 展开更多
关键词 Hereditary hemorrhagic telangiectasia ANGIODYSPLASIA Intracranial hemorrhage EPISTAXIS Activin receptor-like kinase 1
下载PDF
A multicenter study assessing the prevalence of germline genetic alterations in Chinese gastric-cancer patients 被引量:1
14
作者 Yin-Jie Zhang Yang Yang +12 位作者 Qing Wei Ting Xu Xiao-Tian Zhang Jing Gao Si-Yi Tan Bao-Rui Liu Jing-Dong Zhang Xiao-Bing Chen Zhao-Jie Wang Meng Qiu Xin Wang Lin Shen Xi-Cheng Wang 《Gastroenterology Report》 SCIE EI 2021年第4期339-349,I0002,共12页
Background Approximately 10%of patients with gastric cancer(GC)have a genetic predisposition toward the disease.However,there is scant knowledge regarding germline mutations in predisposing genes in the Chinese GC pop... Background Approximately 10%of patients with gastric cancer(GC)have a genetic predisposition toward the disease.However,there is scant knowledge regarding germline mutations in predisposing genes in the Chinese GC population.This study aimed to determine the spectrum and distribution of predisposing gene mutations among Chinese GC patients known to have hereditary high-risk factors for cancer.Methods A total of 40 GC patients from 40 families were recruited from seven medical institutions in China.Next-generation sequencing was performed on 171 genes associated with cancer predisposition.For probands carrying pathogenic/likely pathogenic germline variants,Sanger sequencing was applied to validate the variants in the probands as well as their relatives.Results According to sequencing results,25.0%(10/40)of the patients carried a combined total of 10 pathogenic or likely pathogenic germline variants involving nine different genes:CDH1(n=1),MLH1(n=1),MSH2(n=1),CHEK2(n=1),BLM(n=1),EXT2(n=1),PALB2(n=1),ERCC2(n=1),and SPINK1(n=2).In addition,129 variants of uncertain significance were identified in 27 patients.Conclusions This study indicates that approximately one in every four Chinese GC patients with hereditary high risk factors may harbor pathogenic/likely pathogenic germline alterations in cancer-susceptibility genes.The results further indicate a unique genetic background for GC among Chinese patients. 展开更多
关键词 familial gastric cancer next-generation sequencing germline mutation cancer-predisposition gene
下载PDF
上一页 1 下一页 到第
使用帮助 返回顶部