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Hereditary non-polyposis colorectal cancer: The rise and fall of a confusing term 被引量:24
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作者 Jeremy R Jass 《World Journal of Gastroenterology》 SCIE CAS CSCD 2006年第31期4943-4950,共8页
The term Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is a poor descriptor of the syndrome described by Lynch. Over the last decade, the term has been applied to heterogeneous groups of families meeting limite... The term Hereditary Non-Polyposis Colorectal Cancer (HNPCC) is a poor descriptor of the syndrome described by Lynch. Over the last decade, the term has been applied to heterogeneous groups of families meeting limited clinical criteria, for example the Amsterdam criteria. It is now apparent that not all Amsterdam criteria-positive families have the Lynch syndrome. The term HNPCC has also been applied to clinical scenarios in which CRCs with DNA microsateUite instability are diagnosed but in which there is no vertical transmission of an altered DNA mismatch repair (MMR) gene. A term that has multiple, mutually incompatible meanings is highly problematic, particularly when it may influence the management of an individual family. The Lynch syndrome is best understood as a hereditary predisposition to malignancy that is explained by a germline mutation in a DNA MMR gene. The diagnosis does not depend in an absolute sense on any particular family pedigree structure or age of onset of malignancy. Families with a strong family history of colorectal cancer that do not have Lynch syndrome have been grouped as ‘Familial Colorectal Cancer Type-X'. The first step in characterizing these cancer families is to distinguish them from Lynch syndrome. The term HNPCC no longer serves any useful purpose and should be phased out. 展开更多
关键词 hereditary non-polyposis colorectal cancer COLON cancer hereditary
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Clinical and molecular analysis of hereditary non-polyposis colorectal cancer in Chinese colorectal cancer patients 被引量:8
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作者 Jun Wang Mao-Hong Luo +6 位作者 Zuo-Xing Zhang Pei-Da Zhang Xi-Li Jiang Dong-Wang Ma Rong-Zeng Suo Li-Zhong Zhao Qing-Hui Qi 《World Journal of Gastroenterology》 SCIE CAS CSCD 2007年第10期1612-1617,共6页
AIM: To analyze the frequency of hereditary non-polyposis colorectal cancer (HNPCC) in Chinese colorectal cancer (CRC) patients, and to discuss the value of microsatellite instability (MSI) and/or immunohistoch... AIM: To analyze the frequency of hereditary non-polyposis colorectal cancer (HNPCC) in Chinese colorectal cancer (CRC) patients, and to discuss the value of microsatellite instability (MSI) and/or immunohistochemistry (IHC) for MSH2/MLH1 protein analysis as pre-screening tests in China. METHODS: The Amsterdam criteria Ⅰ and Ⅱ (clinical diagnosis) and/or germline hMLHI/hMSH2 mutations (genetic diagnosis) were used to classify HNPCC families. Genetic tests, including microsatellite instability, immunohistochemistry for MSH2/MLH1 proteins and hMSH2/hMLH1 genes, were performed in each proband. RESULTS: From July 2000 to June 2004, 1988 patients with colorectal cancer were analysed and 114 CRC patients (5.7%) from 48 families were categorized as having HNPCC, including 76 from 26 families diagnosed clinically and 38 from the other 22 families diagnosed genetically. The sensitivity and specificity of high MSI and IHC for predicting mutations were 100% and 54%, and 79% and 77%, respectively. CONCLUSION: The frequency of HNPCC is approximately 10% among all Chinese CRC cases. The MSI and IHC detections for hMSH2/hMLH1 proteins are reliable prescreening tests for hMLHI/hMSH2 germline mutations in families suspected of having HNPCC. 展开更多
关键词 hereditary non-polyposis colorectal cancer colorectal cancer Mismatch repair gene IMMUNOHISTOCHEMISTRY Microsatellite instability
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Germline MLH1 and MSH2 mutational spectrum including frequent large genomic aberrations in Hungarian hereditary non-polyposis colorectal cancer families:Implications for genetic testing 被引量:9
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作者 Janos Papp Marietta E Kovacs Edith Olah 《World Journal of Gastroenterology》 SCIE CAS CSCD 2007年第19期2727-2732,共6页
AIM: To analyze the prevalence of germline MLH1 and MSH2 gene mutations and evaluate the clinical characteristics of Hungarian hereditary non-polyposis colorectal cancer (HNPCC) families. METHODS: Thirty-six kindreds ... AIM: To analyze the prevalence of germline MLH1 and MSH2 gene mutations and evaluate the clinical characteristics of Hungarian hereditary non-polyposis colorectal cancer (HNPCC) families. METHODS: Thirty-six kindreds were tested for mutations using conformation sensitive gel electrophoreses, direct sequencing and also screening for genomic rearrangements applying multiplex ligation-dependent probe amplifi cation (MLPA). RESULTS: Eighteen germline mutations (50%) were identifi ed, 9 in MLH1 and 9 in MSH2. Sixteen of these sequence alterations were considered pathogenic, the remaining two were non-conservative missense alterations occurring at highly conserved functional motifs. The majority of the defi nite pathogenic mutations (81%, 13/16) were found in families fulfilling the stringent Amsterdam Ⅰ/Ⅱ criteria, including three rearrangements revealed by MLPA (two in MSH2 and one in MLH1). However, in three out of sixteen HNPCC-suspected families (19%), a disease-causing alteration could be revealed. Furthermore, nine mutations described here are novel, and none of the sequence changes were found in more than one family.CONCLUSION: Our study describes for the f irst time the prevalence and spectrum of germline mismatch repair gene mutations in Hungarian HNPCC and suspected-HNPCC families. The results presented here suggest that clinical selection criteria should be relaxed and detection of genomic rearrangements should be included in genetic screening in this population. 展开更多
关键词 Germline mutation hereditary non-polyposis colorectal cancer MLH1 MSH2 REARRANGEMENT
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Risk of colon cancer in hereditary non-polyposis colorectal cancer patients as predicted by fuzzy modeling:Influence of smoking 被引量:5
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作者 Rhonda M Brand David D Jones +4 位作者 Henry T Lynch Randall E Brand Patrice Watson Ramesh Ashwathnayaran Hemant K Roy 《World Journal of Gastroenterology》 SCIE CAS CSCD 2006年第28期4485-4491,共7页
AIM: To investigate whether a fuzzy logic model could predict colorectal cancer (CRC) risk engendered by smoking in hereditary non-polyposis colorectal cancer (HNPCC) patients. METHODS: Three hundred and forty H... AIM: To investigate whether a fuzzy logic model could predict colorectal cancer (CRC) risk engendered by smoking in hereditary non-polyposis colorectal cancer (HNPCC) patients. METHODS: Three hundred and forty HNPCC mismatch repair (MMR) mutation carriers from the Creighton University Hereditary Cancer Institute Registry were selected for modeling. Age-dependent curves were generated to elucidate the joint effects between gene mutation (hMLH1 or hMSH2), gender, and smoking status on the probability of developing CRC. RESULTS: Smoking significantly increased CRC risk in male hMSH2 mutation carriers (P 〈 0.05). hMLH1 mutations augmented CRC risk relative to hMSH2 mutation carriers for males (P 〈 0.05). Males had a significantly higher risk of CRC than females for hMLH1 non smokers (P 〈 0.05), hMLH1 smokers (P 〈 0.1) and hMSH2 smokers (P 〈 0.1). Smoking promoted CRC in a dose-dependent manner in hMSH2 in males (P 〈 0.05). Females with hMSH2 mutations and both sexes with the hMLH1 groups only demonstrated a smoking effect after an extensive smoking history (P 〈 0.05). CONCLUSION: CRC promotion by smoking in HNPCC patients is dependent on gene mutation, gender and age. These data demonstrate that fuzzy modeling may enable formulation of clinical risk scores, thereby allowing individualization of CRC prevention strategies. 展开更多
关键词 hereditary non-polyposis colorectal cancer Lynch syndrome SMOKING colorectal cancer Fuzzy modeling Risk assessment
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Molecular signaling mechanisms of apoptosis in hereditary non-polyposis colorectal cancer 被引量:7
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作者 Samar Hassen Nawab Ali Parimal Chowdhury 《World Journal of Gastrointestinal Pathophysiology》 CAS 2012年第3期71-79,共9页
Colorectal cancer is the second most leading cause of cancer related deaths in the western countries. One of the forms of colorectal cancer is hereditary non-polyposis colorectal cancer (HNPCC), also known as "Ly... Colorectal cancer is the second most leading cause of cancer related deaths in the western countries. One of the forms of colorectal cancer is hereditary non-polyposis colorectal cancer (HNPCC), also known as "Lynch syndrome". It is the most common hereditary form of cancer accounting for 5%-10% of all colon cancers. HNPCC is a dominant autosomal genetic disorder caused by germ line mutations in mismatch repair genes. Human mismatch repair genes play a crucial role in genetic stability of DNA, the inactivation of which results in an increased rate of mutation and often a loss of mismatch repair function. Recent studies have shown that certain mismatch repair genes are involved in the regulation of key cellular processes including apoptosis. Thus, differential expression of mismatch repair genes particularly the contributions of MLH1 and MSH2 play important roles in therapeutic resistance to certain cytotoxic drugs such as cisplatin that is used normally as chemoprevention. An understanding of the role of mismatch repair genes in molecular signaling mechanism of apoptosis and its involvement in HNPCC needs attention for further work into this important area of cancer research, and this review article is intended to accomplish that goal of linkage of apoptosis with HNPCC. The current review was not intended to provide a comprehensive enumeration of the entire body of literature in the area of HNPCC or mismatch repair system or apoptosis; it is rather intended to focus primarily on the current state of knowledge of the role of mismatch repair proteins in molecular signaling mechanism of apoptosis as it relates to understanding of HNPCC. 展开更多
关键词 colorectal cancer hereditary non-polyposis colorectal cancer APOPTOSIS Molecular signaling MECHANISMS DNA mismatch repair proteins
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MLH1 promoter germline-methylation in selected probands of Chinese hereditary non-polyposis colorectal cancer families 被引量:4
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作者 Heng-Hua Zhou Shi-Yan Yan +6 位作者 Xiao-Yan Zhou Xiang Du Tai-Ming Zhang Xu Cai Yong-Ming Lu San-Jun Cai Da-Ren Shi 《World Journal of Gastroenterology》 SCIE CAS CSCD 2008年第48期7329-7334,共6页
AIM: To detect the MLH1 gene promoter germline- methylation in probands of Chinese hereditary non- polyposis colorectal cancer (HNPCC), and to evaluate the role of methylation in MLH1 gene promoter and molecular ge... AIM: To detect the MLH1 gene promoter germline- methylation in probands of Chinese hereditary non- polyposis colorectal cancer (HNPCC), and to evaluate the role of methylation in MLH1 gene promoter and molecular genetics in screening for HNPCC.METHODS: The promoter germline methylation of MLH1 gene was detected by methylation-specific PCR (MSP) in 18 probands from unrelated HNPCC families with high microsatellite-instability (MSI-H) phenotype but without germline mutations in MSH2, MLH1 and MSH6 genes. At the same time, 6 kindreds were col- lected with microsatellite-stability (MSS) phenotype but without germline mutations in MSH2, MIH1 and MSH6 genes as controls. The results of MSP were confirmed by clone sequencing. To ensure the reliability of the results, family H65 with nonsense germline mutation at c.2228C 〉 A in MSH2 gene was used as the negative control and the cell line sw48 was used as the known positive control along with water as the blank control. Immunochemical staining of MIH1 protein was performed with Envision two-step method in those patients with aberrant methylation to judge whether the status of MLH1 gene methylation affects the expression of MLH1 protein.RESULTS: Five probands with MIH1 gene promoter methylation were detected in 18 Chinese HNPCC families with MSI-H phenotype but without germline mutations in MSH2, MLH1 and MSH6 genes. Two of the five probands from families H10 and H29 displayed exhaustive-methylation, fulfilling the Japanese criteria (JC) and the Amsterdam criteria (AC), respectively. The other 3 probands presented part-methylation fulfilling the AC. Of the 13 probands with unmethylation phenotype, 8 fulfilled the JC and the Bethesda guidelines (BG), 5 fulfilled the AC. The rate of aberrant methylation in MLH1 gene in the AC group (22.2%, 4/18) was higher than that in the JC/BG groups (5.6%, 1/18) in all HNPCC families with MSI-H phenotype but without germline mutations in PISH2, PIIH1 and MSH6 genes. However, no proband with methylation in MLH1 gene was found in the families with MSS phenotype and without germline mutations in MSH2, MLH1 and MSH6 genes. No expression of MLH1 protein was found in tumor tissues from two patients with exhaustive-methylation phenotype, whereas positive expression of MLH1 protein was observed in tumor tissues from patients with partial methylation phenotype (excluding family H42 without tumor tissue), indicating that exhaustive-methylation of MLH1 gene can cause defective expression of MLH1 protein.CONCLUSION: Methylation phenotype of MLH1 gene is correlated with microsatellite phenotype of MMR genes, especially with MSI-H. Exhaustive-methylation of MLH1 gene can silence the expression of MLH1 protein. MLH1 promoter methylation analysis is a promising tool for molecular genetics screening for HNPCC. 展开更多
关键词 hereditary non-polyposis colorectal cancer MLH1 METHYLATION GERMLINE Methylation-specific PCR Microsatellite phenotype
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Three novel missense germline mutations in different exons of MSH6 gene in Chinese hereditary non-polyposis colorectal cancer families 被引量:4
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作者 Shi-Yan Yan Xiao-Yan Zhou +7 位作者 Xiang Du Tai-Ming Zhang Yong-Ming Lu San-Jun Cai Xiao-Li Xu Bao-Hua Yu Heng-Hua Zhou Da-Ren Shi 《World Journal of Gastroenterology》 SCIE CAS CSCD 2007年第37期5021-5024,共4页
AIM: To investigate the germline mutations of MSH6 gene in probands of Chinese hereditary non-polyposis colorectal cancer (HNPCC) families fulfilling different clinical criteria. METHODS: Germline mutations of MSH6 ge... AIM: To investigate the germline mutations of MSH6 gene in probands of Chinese hereditary non-polyposis colorectal cancer (HNPCC) families fulfilling different clinical criteria. METHODS: Germline mutations of MSH6 gene were detected by PCR-based DNA sequencing in 39 unrelated HNPCC probands fulfilling different clinical criteria in which MSH2 and MLH1 mutations were excluded. To further investigate the pathological effects of detected missense mutations, we analyzed the above related MSH6 exons using PCR-based sequencing in 137 healthy persons with no family history. The clinicopathological features were collected from the Archive Library of Cancer Hospital, Fudan University and analyzed. RESULTS: Four germline missense mutations distributed in the 4th, 6th and 9th exons were observed. Of them, three were not found in international HNPCC databases and did not occur in 137 healthy controls, indicating that they were novel missense mutations. The remaining mutation which is consistent with the case H14 at c.3488A>T of exon 6 of MSH6 gene was also found in the controls, the rate was approximately 3.65% (5/137) and the type of mutation was not found in the international HNPCC mutational and SNP databases, suggesting that this missense mutation was a new SNP unreported up to date. CONCLUSION: Three novel missense mutations and a new SNP observed in the probands of Chinese HNPCC families, may play an important role in the development of HNPCC. 展开更多
关键词 hereditary non-polyposis colorectal cancer MSH6 Missense mutation colorectal cancer
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Genetic diagnosis strategy of hereditary non-polyposis colorectal cancer 被引量:4
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作者 Jian-Qiu Sheng Hong Zhang +11 位作者 Min Ji Lei Fu Hong Mu Ming-Zhi Zhang Ji-Sheng Huang Min Han Ai-Qin Li Zhi Wei Zi-Qin Sun Zi-Tao Wu Chang-Hong Xia Shi-Rong Li 《World Journal of Gastroenterology》 SCIE CAS CSCD 2009年第8期983-989,共7页
AIM: To study the characteristics of mismatch repair gene mutation of Chinese hereditary non-polyposis colorectal cancer (HNPCC) and hMLH1 gene promoter methylation, and to improve the screening strategy and explore t... AIM: To study the characteristics of mismatch repair gene mutation of Chinese hereditary non-polyposis colorectal cancer (HNPCC) and hMLH1 gene promoter methylation, and to improve the screening strategy and explore the pertinent test methods. METHODS: A systematic analysis of 30 probands from HNPCC families in the north of China was performed by immunohistochemistry, microsatellite instability (MSI), gene mutation and methylation detection. RESULTS: High frequency microsatellite instability occurred in 25 probands (83.3%) of HNPCC family. Loss of hMLH1 and hMSH2 protein expression accounted for 88% of all microsatellite instability. Pathogenic muta-tion occurred in 14 samples and 3 novel mutational sites were discovered. Deletion of exons 1-6, 1-7 and 8 of hMSH2 was detected in 3 samples and no large fragment deletion was found in hMLH1. Of the 30 probands, hMLH1 gene promoter methylation occurred in 3 probands. The rate of gene micromutation detection combined with large fragment deletion detection was 46.7%-56.7%. The rate of the two methods in combination with methylation detection was 63.3%. CONCLUSION: Scientific and rational detection strategy can improve the detection rate of HNPCC. Based on traditional molecular genetics and combined with epigenetics, multiple detection methods can accurately diagnose HNPCC. 展开更多
关键词 hereditary non-polyposis colorectal cancer Gene mutation Mismatch repair HMSH2 HMLH1 Large fragment deletion METHYLATION
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Clinicopathological features of typical and nontypical hereditary non-polyposis colorectal cancer and their germline mutation of hMLH_1 and hMSH_2
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作者 崔龙 《外科研究与新技术》 2003年第2期74-75,共2页
Objective To study the clinicopathological features of the Chinese hereditary non-polyposis colorectal cancer and its germline mutation of hMLH1 and hMSH2. Methods Thirteen typical Chinese hereditary non-polyposis col... Objective To study the clinicopathological features of the Chinese hereditary non-polyposis colorectal cancer and its germline mutation of hMLH1 and hMSH2. Methods Thirteen typical Chinese hereditary non-polyposis colorectal carcinoma (HNPC) C kindreds and 19 nontypical HNPCC families were registered and followed up. The germline mutation of the hMLH1 and hMSH2 of 12 index cases of 6 typical and 6 nontypical NHPCC were screened by PCR-SSCP. Samples with abnormal mobility were sequenced direcdy. Results The average age of typical HNPCC was 47, no difference existed between sexs. Location of the tumors of typical HNPCC represented 44.7% on the right half colon and non-typical HNPCC 65. 8% on the rectum. The rate of the metachronos cancer was 11.5%. The 3 - , 5 - and 10 -year survival rate was 64. 0%, 45. 3% and 31. 2% respectively. Among 12 cases, 8 showed abnormal mobility. Except for an intron polymorphinism, six exons abnormalities were found in 5 of 12 proband. Sequencing showed 4 missense,7 展开更多
关键词 of Clinicopathological features of typical and nontypical hereditary non-polyposis colorectal cancer and their germline mutation of hMLH1 and hMSH2
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Lynch syndrome and Lynch syndrome mimics: The growing complex landscape of hereditary colon cancer 被引量:7
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作者 John M Carethers Elena M Stoffel 《World Journal of Gastroenterology》 SCIE CAS 2015年第31期9253-9261,共9页
Hereditary non-polyposis colorectal cancer(HNPCC) was previously synonymous with Lynch syndrome; however,identification of the role of germline mutations in the DNA mismatch repair(MMR) genes has made it possible to d... Hereditary non-polyposis colorectal cancer(HNPCC) was previously synonymous with Lynch syndrome; however,identification of the role of germline mutations in the DNA mismatch repair(MMR) genes has made it possible to differentiate Lynch syndrome from other conditions associated with familial colorectal cancer(CRC). Broadly,HNPCC may be dichotomized into conditions that demonstrate defective DNA MMR and microsatellite instability(MSI) vs those conditions that demonstrate intact DNA MMR. Conditions characterized by MMR deficient CRCs include Lynch syndrome(germline MMR mutation),Lynch-like syndrome(biallelic somatic MMR mutations),constitutional MMR deficiency syndrome(biallelic germline MMR mutations),and sporadic MSI CRC(somatic biallelic methylation of MLH1). HNPCC conditions with intact DNA MMR associated with familial CRC include polymerase proofreading associated polyposis and familial colorectal cancer type X. Although next generation sequencing technologies have elucidated the genetic cause for some HNPCC conditions,others remain genetically undefined. Differentiating between Lynch syndrome and the other HNPCC disorders has profound implications for cancer risk assessment and surveillance of affected patients and their at-risk relatives. Clinical suspicion coupled with molecular tumor analysis and testing for germline mutations can help differentiate the clinical mimicry within HNPCC and facilitate diagnosis and management. 展开更多
关键词 hereditary non-polyposis colorectal cancer LYNCH s
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Association of cancer with comorbid inflammatory conditions and treatment in patients with Lynch syndrome
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作者 Muhammad S Faisal Carol A Burke +9 位作者 David Liska Amy L Lightner Brandie Leach Margaret O’Malley Lisa LaGuardia Benjamin Click JP Achkar Matthew Kalady JM Church Gautam Mankaney 《World Journal of Clinical Oncology》 CAS 2022年第1期49-61,共13页
BACKGROUND Individuals with Lynch syndrome(LS)and hereditary non-polyposis colorectal cancer(HNPCC)are at increased risk of both colorectal cancer and other cancers.The interplay between immunosuppression,a comorbid i... BACKGROUND Individuals with Lynch syndrome(LS)and hereditary non-polyposis colorectal cancer(HNPCC)are at increased risk of both colorectal cancer and other cancers.The interplay between immunosuppression,a comorbid inflammatory condition(CID),and HNPCC on cancer risk is unclear.AIM To evaluate the impact of CIDs,and exposure to monoclonal antibodies and immunomodulators,on cancer risk in individuals with HNPCC.METHODS Individuals prospectively followed in a hereditary cancer registry with LS/HNPCC with the diagnosis of inflammatory bowel disease or rheumatic disease were identified.We compared the proportion of patients with cancer in LS/HNPCC group with and without a CID.We also compared the proportion of patients who developed cancer following a CID diagnosis based upon exposure to immunosuppressive medications.RESULTS A total of 21 patients with LS/HNPCC and a CID were compared to 43 patients with LS/HNPCC but no CID.Cancer occurred in 84.2% with a CID compared to 76.7% without a CID(P=0.74)with no difference in age at first cancer diagnosis 45.5±14.6 vs 43.8±7.1 years(P=0.67).LS specific cancers were diagnosed in 52.4% with a CID vs 44.2% without a CID(P=0.54).Nine of 21(42.9%)patients were exposed to biologics or immunomodulators for the treatment of their CID.Cancer after diagnosis of CID was seen in 7(77.8%)of exposed individuals vs 5(41.7%)individuals unexposed to biologics/immunomodulators(P=0.18).All 7 exposed compared to 3/5 unexposed developed a LS specific cancer.The exposed and unexposed groups were followed for a median 10 years and 8.5 years,respectively.The hazard ratio for cancer with medication exposure was 1.59(P=0.43,95%CI:0.5-5.1).CONCLUSION In patients with LS/HNPCC,the presence of a concurrent inflammatory condition,or use of immunosuppressive medication to treat the inflammatory condition,might not increase the rate of cancer occurrence in this limited study. 展开更多
关键词 Lynch syndrome hereditary non-polyposis colorectal cancer Inflammatory bowel disease IMMUNOSUPPRESSION BIOLOGICS
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根据临床病理学特征鉴别无家族史MSI-H大肠癌 被引量:4
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作者 孟晓明 盛剑秋 +4 位作者 武子涛 付蕾 安贺娟 韩英 李世荣 《基础医学与临床》 CSCD 北大核心 2010年第3期252-257,共6页
目的根据修订的Bethesda指南,分析无家族史大肠癌患者的病理学特征和微卫星不稳定检测结果的关系,探讨无家族史高度微卫星不稳定(MSI-H)大肠癌的临床病理学特征。方法纳入150例无家族史大肠癌患者,选取5个标准位点(BAT25、BAT26、D2S123... 目的根据修订的Bethesda指南,分析无家族史大肠癌患者的病理学特征和微卫星不稳定检测结果的关系,探讨无家族史高度微卫星不稳定(MSI-H)大肠癌的临床病理学特征。方法纳入150例无家族史大肠癌患者,选取5个标准位点(BAT25、BAT26、D2S123、D5S346、D17S250)进行免疫荧光PCR,以GeneMapper软件分析PCR产物;收集患者年龄、性别及肿瘤部位信息;光学显微镜观察多种病理特征(分化程度、黏蛋白分化、组织学异质性及类Crohn反应);免疫组化方法检测肿瘤浸润淋巴细胞CD4+和CD8+的表达。Logistic逐步回归分析产生回归方程,依据病理特征计算MSI-H表型的概率。结果无家族史大肠癌中MSI-H表型为13.33%;低分化、组织学异质性、类Crohn反应和TILs是MSI-H表型大肠癌的独立鉴别因子,Logistic回归方程鉴别MSI-H表型大肠癌的敏感性为70.0%,特异性为99.2%,总准确率为95.3%。结论MSI-H表型构成了一个病理学特异的无家族史大肠癌类型,根据临床病理学特征能够有效地检出MSI-H表型大肠癌。 展开更多
关键词 微卫星不稳定 遗传性非息肉病性结直肠癌 大肠癌 临床病理学 肿瘤浸润淋巴细胞
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遗传性非息肉病性结直肠癌诊断试验Meta分析研究 被引量:4
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作者 钟文明 刘晓娟 +2 位作者 程郁离 韩煊 宇传华 《中国卫生统计》 CSCD 北大核心 2009年第2期143-146,共4页
目的通过诊断试验Meta分析,综合评价IHC和MSI对HNPCC的诊断效果。方法通过检索Pubmed、Medline、Ovid等数据库,获得有关IHC或MSI筛查HNPCC的文献,提取相关数据;采用SAS8.02进行诊断试验Meta分析。结果Meta分析稳健法结果显示IHC法的综... 目的通过诊断试验Meta分析,综合评价IHC和MSI对HNPCC的诊断效果。方法通过检索Pubmed、Medline、Ovid等数据库,获得有关IHC或MSI筛查HNPCC的文献,提取相关数据;采用SAS8.02进行诊断试验Meta分析。结果Meta分析稳健法结果显示IHC法的综合灵敏度为0.826,诊断优势比为22.537;MSI法的综合灵敏度为0.852,诊断优势比为33.115。结论两种HNPCC筛查方法效果较好,但两方法诊断效果无统计学意义,均对HNPCC具有理想的诊断价值。 展开更多
关键词 遗传性非息肉病性结直肠癌 META分析 错配修复 免疫组织化学 微卫星不稳定
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遗传性非息肉病性结直肠癌家系分析 被引量:2
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作者 王军 罗茂红 +6 位作者 张作兴 张培达 马东旺 所荣增 赵丽中 姜锡丽 江涛 《实用癌症杂志》 2004年第4期381-384,共4页
目的 探讨遗传性非息肉病性结直肠癌在我国的发病遗传规律以及流行病学特点。方法 自 1999年 1月至 2 0 0 2年 12月 ,对天津市人民医院 (原名天津市滨江医院 )收治的 2 92例结直肠癌患者进行家系调查 ,从中筛选出符合以下标准的遗传... 目的 探讨遗传性非息肉病性结直肠癌在我国的发病遗传规律以及流行病学特点。方法 自 1999年 1月至 2 0 0 2年 12月 ,对天津市人民医院 (原名天津市滨江医院 )收治的 2 92例结直肠癌患者进行家系调查 ,从中筛选出符合以下标准的遗传性非息肉病性结直肠癌家系 3 8个 ,对家系的肿瘤发生率、肿瘤谱和临床特点等进行了分析和总结。诊断标准使用Amsterdam标准Ⅰ、Amsterdam标准Ⅱ (ICG HNPCC)和日本HNPCC诊断标准。结果  3 8个遗传性非息肉病性结直肠癌家系中共有 14 5例癌症患者 ,其中男性 76例 ,女性 69例 ,男女比例为 1.1∶1。原发性结直肠癌平均诊断年龄为 ( 5 5 .73± 15 .88)岁 ,在所有 99例结直肠癌中 ,左半结肠癌及直肠癌 2 9例 ,占 2 9.3 % ;右半结肠癌 70例 ,占 70 .7% ,右半结肠癌占有绝对的优势 ;异时性多发性原发结直肠癌患者占大肠癌患者的 13 .1% ( 13 /99) ;HNPCC相关肿瘤共 46例其发生率由高到低前三位是 :子宫内膜癌 9例 ( 19.6% )、乳腺癌 7例 ( 15 .2 % )、肺癌、胃癌各 6例 ( 13 .0 % ) ;在男女性共患癌中 ,除胰腺癌、纵隔癌外 ,男性发生率均高于女性 ;第一代、第二代以及第三代患者的平均诊断年龄有逐渐年轻化的趋势 ,并具有统计学意义。结论 我国遗传性非息肉病性结直肠癌很可能? 展开更多
关键词 遗传性非息肉病性结直肠癌 诊断 肿瘤 患者 家系 hnpcc 右半结肠癌 中国 结论 下标
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无hMLH1/hMSH2生殖系突变的遗传性非息肉病性结直肠癌3家系报道 被引量:1
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作者 颜宏利 金黑鹰 +5 位作者 陆一鸣 刘凡 刘飞 孟荣贵 孙树汉 崔龙 《第二军医大学学报》 CAS CSCD 北大核心 2004年第2期129-132,共4页
目的 :考察遗传性非息肉病性结直肠癌 (HNPCC)家系 h ML H1 /h MSH2生殖系突变的情况。 方法 :选择 1 3个符合Amsterdam标准的 HNPCC家系中的先证者 ,利用 DNA测序检测 h ML H1 /h MSH2基因突变情况。对其中不携带 h ML H1 /h MSH2生殖... 目的 :考察遗传性非息肉病性结直肠癌 (HNPCC)家系 h ML H1 /h MSH2生殖系突变的情况。 方法 :选择 1 3个符合Amsterdam标准的 HNPCC家系中的先证者 ,利用 DNA测序检测 h ML H1 /h MSH2基因突变情况。对其中不携带 h ML H1 /h MSH2生殖系突变的 HNPCC家系 ,利用免疫组化检测 h ML H1 /h MSH2基因表达、PCR- SSCP检测先证者肿瘤组织的微卫星不稳定性 (MSI)。 结果 :1 3个 HNPCC家系的先证者中有 3例检测不到 h ML H1 /h MSH2的生殖系突变。 3例无 h ML H1 /h MSH2突变的先证者中 ,肿瘤组织的微卫星不稳定检测均为 MSI- H,免疫组化检测 h ML H1 /h MSH2基因表达正常。结论 :3个严格符合 Amsterdam标准的 HNPCC家系中未发现 h ML H1 /h MSH2基因系突变 ,提示可能存在其他基因突变导致该 3个家系 展开更多
关键词 hMLH1/hMSH2基因 基因突变 遗传性非息肉病性结直肠癌 家系 遗传特点
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遗传性非息肉病结直肠癌的诊治 被引量:3
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作者 徐亮 付华 肖新梅 《实用癌症杂志》 2002年第4期395-397,共3页
目的 探讨遗传性非息肉病结直肠癌 (HNPCC )患者家族成员的患病特点。方法 对 11个HNPCC家族进行调查分析。结果  11个HNPCC家族中有 41例大肠癌患者 ,1例合并子宫内膜癌 ,共有大肠癌灶 49处 ,其中多原发癌 6例 ,平均发病年龄 41.5... 目的 探讨遗传性非息肉病结直肠癌 (HNPCC )患者家族成员的患病特点。方法 对 11个HNPCC家族进行调查分析。结果  11个HNPCC家族中有 41例大肠癌患者 ,1例合并子宫内膜癌 ,共有大肠癌灶 49处 ,其中多原发癌 6例 ,平均发病年龄 41.5岁。结论 HNPCC具有发病年龄轻、好发于近侧结肠、同时或异时大肠癌比例高及易发生其他器官癌的特点。对HN PCC患者及其亲属进行密切随访和定期检测 ,对其早期诊断和治疗有重要意义。 展开更多
关键词 遗传性非息肉病结直肠癌 结直肠肿瘤 诊断 治疗 结肠肿瘤 直肠肿瘤
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Lynch综合征筛查及治疗研究进展 被引量:1
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作者 姜武 梅伟健 丁培荣 《中国肿瘤临床》 CAS CSCD 北大核心 2022年第23期1196-1200,共5页
家族遗传性结直肠癌是一类由于基因胚系变异导致的疾病,其中最常见的是Lynch综合征,也被称为遗传性非息肉病性结直肠癌(hereditary nonpolyposis colorectal cancer,HNPCC)。近年来随着对基因组认识的加深,研究显示Lynch综合征临床表型... 家族遗传性结直肠癌是一类由于基因胚系变异导致的疾病,其中最常见的是Lynch综合征,也被称为遗传性非息肉病性结直肠癌(hereditary nonpolyposis colorectal cancer,HNPCC)。近年来随着对基因组认识的加深,研究显示Lynch综合征临床表型和治疗靶点均有别于散发型结直肠癌。本文将从Lynch综合征筛查策略、类Lynch综合征再定义,以及Lynch综合征免疫治疗和化学预防等方面综述其研究进展。 展开更多
关键词 LYNCH综合征 遗传性非息肉病性结直肠癌 类Lynch综合征 免疫治疗
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Identification of Lynch syndrome: How should we proceed in the 21^(st) century? 被引量:3
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作者 Antoni Castells Francesc Balaguer +2 位作者 Sergi Castellví-Bel Victòria Gonzalo Teresa Ocaa 《World Journal of Gastroenterology》 SCIE CAS CSCD 2007年第33期4413-4416,共4页
Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC), is the most common form of hereditary colorectal cancer. Although great advances in the understanding of its molecular basis have taken... Lynch syndrome, also known as hereditary non-polyposis colorectal cancer (HNPCC), is the most common form of hereditary colorectal cancer. Although great advances in the understanding of its molecular basis have taken place in the last decade, optimal selection of individuals for HNPCC genetic testing remains controversial. This is especially relevant since colonoscopy has been proven effective for reducing colorectal cancer incidence and mortality in individuals at-risk for this disorder. In this manuscript, we summarize the most significant contributions to this important issue that have appearedin the last few years. 展开更多
关键词 hereditary non-polyposis colorectal cancer SCREENING PREVENTION Microsatellite instability GENETICS
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遗传性非息肉病性大肠癌16个家系60例临床报告 被引量:1
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作者 陈会林 李建胜 《中国肛肠病杂志》 2007年第2期26-28,共3页
报告遗传性非息肉病性大肠癌(HNPCC)16家系60例,10家系发生多原性大肠癌16例,伴其他癌7家系,其中2家系8例属Lynch综合征Ⅱ型。大肠癌大部分发生于近端结肠至脾曲结肠。HNPCC与散发性大肠癌(SCRC)相比,年龄低,〈50岁者分别为70... 报告遗传性非息肉病性大肠癌(HNPCC)16家系60例,10家系发生多原性大肠癌16例,伴其他癌7家系,其中2家系8例属Lynch综合征Ⅱ型。大肠癌大部分发生于近端结肠至脾曲结肠。HNPCC与散发性大肠癌(SCRC)相比,年龄低,〈50岁者分别为70%和8.6%(P〈0.01),患第一癌平均年龄低于SCRC。为及早发现HNPCC,建议对患者家族成员行肠镜检查,自20-25岁始,每1~2年1次,随访至60岁。有条件者可行基因诊断。 展开更多
关键词 遗传性非息肉病性大肠癌 家系调查 临床报告
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