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lynch syndrome pre-screening and comprehensive characterization in a multi-center large cohort of Chinese patients with colorectal cancer

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Cancer Biology & Medicine 2022年第8期19卷 1235-1248页

作者： Yan Li Lihong Fan Jianming Zheng Xiu Nie Yu Sun Qin Feng Shenyi Lian Wenqi Bai Weijing Cai Yanan Yang Bo Su Yanfeng Xi Dongmei Lin Department of Pathology Union HospitalTongji Medical CollegeHuazhong University of Science and TechnologyWuhan 430022China Department of Respiration Medicine Shanghai Tenth People’s HospitalSchool of MedicineTongji UniversityShanghai 200072China Department of Pathology Changhai Hospital of ShanghaiShanghai 200433China Department of Pathology Key Laboratory of Carcinogenesis and Translational Research(Ministry of Education)Peking University Cancer Hospital&InstituteBeijing 100142China Department of Colorectal Surgery Shanxi Cancer HospitalTaiyuan 030013China Shanghai Tongshu Biotechnology Co. LtdShanghai 200120China Department of Biochemistry and Molecular Biology Mayo ClinicRochesterMN 55905USA Central Laboratory Shanghai Pulmonary HospitalSchool of MedicineTongji UniversityShanghai 200433China Department of Pathology Shanxi Cancer HospitalTaiyuan 030013China

Objective:lynch syndrome(LS)pre-screening methods remain under-investigated in colorectal cancers(CRCs)in ***,we aimed to systematically investigate LS pre-screening and comprehensively characterize LS ***:Microsatellite instability(MSI)and germline variants of DNA mismatch repair(MMR)genes were examined in 406 deficient MMR(dMMR)and 250 proficient MMR *** genetic differences between LS and sporadic CRCs were studied with whole exome sequencing ***:The incidence of dMMR in Chinese patients with CRCs was 13.8%.Consistency analysis between MMR immunohistochemistry(IHC)and MSI testing showed the kappa value was *** next-generation sequencing(NGS),germline variants were detected in 154 ***,88 patients with CRC were identified as having LS by Sanger *** them,we discovered 21 previously unreported pathogenic germline variants of MMR *** patients with LS,compared with sporadic CRCs,tended to be early-onset,right-sided,early-stage and ***,the performance of MMR IHC and MSI testing for LS pre-screening was comparable:the area under the ROC curve for dMMR,MSI-H,and MSI-H/L was 0.725,0.750,and 0.745,***_MSI-H LS and sporadic CRCs showed substantial differences in somatic genetic characteristics,including different variant frequencies of APC,CREBBP,and KRAS,as well as different enriched pathways of VEGF,Notch,TGFβR,mTOR,ErbB,and Rac protein signal ***:MMR IHC and MSI testing were effective methods for LS *** revealed clinical and somatic genetic characteristics in LS CRCs may have the potential to improve the performance of LS pre-screening in combination with dMMR/MSI.

关键词： Microsatellite instability mismatch repair sequencing lynch syndrome somatic genetic characteristics

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Identification of novel lynch syndrome mutations in Chinese patients with endometriod endometrial cancer

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Cancer Biology & Medicine 2020年第2期17卷 458-467页

作者： Caixia Ren Yan Liu Yuxiang Wang Yan Tang Yawei Wei Congrong Liu Hongquan Zhang Key Laboratory of Carcinogenesis and Translational Research Ministry of Educationand State Key Laboratory of Natural and Biomimetic DrugsPeking University Health Science CenterBeijing 100191China Department of Human Anatomy Histology and EmbryologyPeking University Health Science CenterBeijing 100191China Department of Pathology Peking University Health Science CenterBeijing 100191China Department of Human Anatomy Basic Medical College of Hebei North UniversityZhangjiakou 075000China

Objective:lynch syndrome(LS)predisposes patients to early onset endometrioid endometrial cancer(EEC).However,little is known about LS-related EEC in the Chinese *** aim of this study was to investigate the prevalence of LS and to identify the specific variants of LS in Chinese patients with ***:We applied universal immunohistochemistry screening to detect the expression of mismatch repair(MMR)proteins,which was followed by MLH1 methylation analysis to identify suspected LS cases,next-generation sequencing(NGS)to confirm LS,and microsatellite instability(MSI)analysis to verify ***:We collected 211 samples with ***-seven(27/211,12.8%)EEC cases had a loss of MMR protein *** MLH1 methylation analysis,16 EEC cases were suggested to be associated with ***,through NGS and MSI analysis,we determined that 10 EEC(10/209,4.78%)cases were associated with *** those cases,3 unreported mutations(1 frameshift and 2 nonsense)were identified.M SH6 c.597_597delC,found in 4 patients,is likely to be a founder mutation in ***:We demonstrated the feasibility of a process for LS screening in Chinese patients with EEC,by using universal immunohistochemistry screening followed by MLH1 methylation analysis and confirmation through NGS and MSI *** novel mutations identified in this study expand knowledge of LS.

关键词： DNA mismatch repair endometrial endometrioid cancer germline mutation lynch syndrome next-generation sequencing

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Identification of patients at-risk for lynch syndrome in a hospital-based colorectal surgery clinic

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World Journal of Gastroenterology 2011年第6期17卷 766-773页

作者： Patrícia Koehler-Santos Patricia Izetti Jamile Abud Carlos Eduardo Pitroski Silvia Liliana Cossio Suzi Alves Camey Cláudio Tarta Daniel C Damin Paulo Carvalho Contu Mario Antonello Rosito Patricia Ashton-Prolla Joāo Carlos Prolla Genomic Medicine Laboratory Experimental Research CenterHospital de Clínicas de Porto Alegre Post-Graduate Program in Medical Sciences Federal University of Rio Grande do Sul National Institute for Populational Medical Genetics Medical School Federal University of Rio Grande do Sul Post-Graduate Program in Gastroenterological Sciences Federal University of Rio Grande do Sul Department of Statistics Federal University of Rio Grande do Sul Post-Graduate Program in Epidemiology Federal University of Rio Grande do Sul Research and Post-Graduation Group Hospital de Clínicas de Porto Alegre Division of Coloproctology Hospital de Clínicas de Porto Alegre Department of Surgery Federal University of Rio Grande do Sul Medical Genetics Service Hospital de Clínicas de Porto Alegre Department of Genetics Federal University of Rio Grande do Sul Service of Pathology Hospital de Clínicas de Porto AlegrePorto Alegre-RS90035-903Brazil

AIM:To determine the prevalence of a family history suggestive of lynch syndrome (LS) among patients with colorectal cancer (CRC) followed in a coloproctology outpatient clinic in Southern ***:A consecutive sample of patients with CRC were interviewed regarding personal and family histories of *** data and pathology features of the tumor were obtained from chart ***:Of the 212 CRC patients recruited,61 (29%) reported a family history of CRC,45 (21.2%) were diagnosed under age 50 years and 11 (5.2%) had more than one primary *** histories consistent with Amsterdam and revised Bethesda criteria for LS were identified in 22 (10.4%) and 100 (47.2%) patients,*** percent of the colorectal tumors had features of the high microsatellite instability phenotype,which was associated with younger age at CRC diagnosis and with Bethesda criteria (P < 0.001).Only 5.3% of the patients above age 50 years had been previously submitted for CRC screening and only 4% of patients with suspected LS were referred for genetic risk ***:A significant proportion of patients with CRC were at high risk for *** and training of health care professionals are essential to ensure proper management.

关键词： Colorectal cancer Family history Hereditary cancer lynch syndrome Microsatellite instability phenotype

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Simplified microsatellite instability detection protocol provides equivalent sensitivity to robust detection strategies in lynch syndrome patients

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Cancer Biology & Medicine 2017年第2期14卷 142-150页

作者： Hadi Babaei Mehrdad Zeinalian Mohammad Hassan Emami Mortaza Hashemzadeh Najmeh Farahani Rasoul Salehi Department of Genetics and Molecular Biology School of MedicineIsfahan University of Medical Sciences Clinic of Gastrointestinal Diseases Poursina Hakim Research CenterIsfahan University of Medical Sciences Cellular and Molecular Research Center Shahrekord University of Medical Sciences

Objective:Germline mutations in mismatch repair(MMR)genes cause lynch syndrome(LS).LS is an inherited disease,and an important consequence of MMR deficiency is microsatellite instability(MSI)*** phenotype influences the efficacy of5 fluorouracil(5-FU)***,cost effective,and easy to perform laboratory tests are required to include MSI detection in routine laboratory *** of CAT25 as monomorphic short tandem repeat sequence enables CAT25 to be an efficient screening tool among hereditary nonpolyposis colorectal cancer(HNPCC)patients compared with other methods used ***:Based on Amsterdam II criteria,31 patients in 31 families were shortlisted from a total number of 1,659 colorectal cancer *** status was examined in these patients using CAT25 and a commercially available Promega MSI five-markerbased detection system as well as immunohistochemical(IHC)staining of four important MMR *** were scored as high microsatellite instable(MSI-H),low(MSI-L),or stable(MSS).MSI status determined by CAT25 single mononucleotide marker was compared with that of five mononucleotide markers,Promega commercial kit,and IHC ***:MMR protein deficiency was observed on 7/31 probands using IHC methodology and 6/31 categorized as MSI-H using commercial kit or CAT25 single *** sensitivity and specificity of the CAT25 single marker were the same as those detected by five-marker Promega commercial kit in our ***:Based on our results,the performance of the CAT25 single mononucleotide marker for MSI status determination in our HNPCC patients is the same as that of the five-marker-based commercial kit.

关键词： lynch syndrome HNPCC DNA mismatch repair IHC microsatellite instability

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A de novo germline MLH1 mutation in a lynch syndrome patient with discordant immunohistochemical and molecular biology test results

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World Journal of Gastroenterology 2012年第39期18卷 5635-5639页

作者： Fabrice Airaud Sébastien Küry Isabelle Valo Ingrid Maury Dominique Bonneau Olivier Ingster Stéphane Bezieau CHU Nantes Service de Génétique Médicale9 quai Moncousu44093 Nantes Cedex 1France Institut de Cancérologie de l'Ouest Service d'Anatomie et Cytologie Pathologique2 rue Moll49933 Angers Cedex 9France CHU Angers Service de Génétique Médicale4 rue Larrey49933 AngersFrance

We describe a patient with a Homo sapiens mutL homolog 1 (MLH1)-associated lynch syndrome with previous diagnoses of two distinct primary cancers:a sigmoid colon cancer at the age of 39 years, and a right colon cancer at the age of 50 years. The mutation identified in his blood and buccal cells, c.1771delG, ***591Ilefs*25, appears to be a de novo event, as it was not transmitted by either of his parents. This type of de novo event is rare in MLH1 as only three cases have been reported in the literature so far. Further-more, the discordant results observed between repli-cation error phenotyping and immunohistochemistry highlight the importance of the systematic use of both pre-screening tests in the molecular diagnosis of lynch syndrome.

关键词： lynch syndrome Homo sapiens mutL ho-molog 1 De novo mutation Replication error pheno- type Immunohistochemistry

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Classification and genetic counselling for a novel splicing mutation of the MLH1 intron associated with lynch syndrome in colorectal cancer

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Gastroenterology Report 2021年第6期9卷 552-559页

作者： Ling-Ling Wang Shuang-Mei Zou Lin Dong Ming Yang Dan Qi Zhao Lu Jia-Nan Chen Shi-Wen Mei Zhi-Xun Zhao Xu Guan Zheng Jiang Qian Liu Zheng Liu Xi-Shan Wang Department of Colorectal Surgery National Cancer Center/National Clinical Research Center for Cancer/Cancer HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingP.R.China Department of Pathology National Cancer Center/National Clinical Research Center for Cancer/Cancer HospitalChinese Academy of Medical Sciences and Peking Union Medical CollegeBeijingP.R.China

Background:lynch-syndrome-associated cancer is caused by germline pathogenic mutations in mismatch repair *** major challenge to lynch-syndrome screening is the interpretation of variants found by diagnostic *** study aimed to classify the MLH1 c.1989t5G>A mutation,which was previously reported as a variant of uncertain significance,to describe its clinical phenotypes and characteristics,to enable detailed genetic ***:We reviewed the database of patients with lynch-syndrome gene detection in our hospital.A novel variant of MLH1 c.1989t5G>A identified by next-generation sequencing was further investigated in this *** staining was carried out to assess the expression of MLH1 and PMS2 protein in tumour *** silico analysis by Alamut software was used to predict the MLH1 c.1989t5G>A variant *** transcription-polymerase chain reaction and sequencing of RNA fromwhole bloodwere used to analyse the functional significance of this ***:Among affected family members in the suspected lynch-syndrome pedigree,the patient suffered from late-stage colorectal cancer but had a good *** found the MLH1 c.1989t5G>A variant,which led to aberrant splicing and loss of MLH1 and PMS2 protein in the nuclei of tumour *** aberrant transcript was detectable and skipping of MLH1 exon 17 in carriers of MLH1 c.1989t5G>A was ***:MLH1 c.1989t5G>A was detected in a cancer family pedigree and identified as a pathological variant in patients with lynch *** spectrumof lynch syndrome was enriched through enhanced genetic testing and close surveillancemight help future patients who are suspected of having lynch syndrome to obtain a definitive early diagnosis.

关键词： lynch syndrome MLH1 genetic testing colorectal cancer genetic counselling

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Comparison of screening strategies for lynch syndrome in patients with newly diagnosed endometrial cancer:a prospective cohort study in China

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Cancer Communications 2019年第1期39卷 390-401页

作者： Xiaopei Chao Lei Li Ming Wu Shuiqing Ma Xianjie Tan Sen Zhong Yalan Bi Jinghe Lang Department of Obstetrics and Gynecology Peking Union Medical College HospitalPeking Union Medical College&Chinese Academy of Medical ScienceShuaifuyuan No.1Dongcheng DistrictBeijing 100730P.R.China Department of Pathology Peking Union Medical College HospitalPeking Union Medical College&Chinese Academy of Medical ScienceBeijing 100730P.R.China

Background: The prevalence of lynch syndrome and screening strategies for this disorder in Chinese patients with endometrial cancer have seldom been investigated. Such data would be essential for the screening, prevention, genetic counseling, and treatment of lynch syndrome. The purpose of this prospective study was to determine the accuracy of the mismatch repair (MMR) protein immunohistochemistry (IHC), microsatellite instability (MSI) test, and clinical diagnostic criteria in screening for lynch syndrome-associated endometrial cancer (LS-EC) in a prospective Chinese cohort. Methods: All patients with newly diagnosed endometrial cancer (EC) were evaluated using clinical diagnostic criteria (Amsterdam II criteria and the revised Bethesda guidelines), MSI test, and IHC of MMR proteins in tumor tissues. For all patients, the screening results were compared with results of germline sequencing for pathogenic variants of MMR genes. Results: Between December 2017 and August 2018, a total of 111 unselected patients with newly diagnosed EC were enrolled. Six patients (5.4%) harbored a pathogenic germline mutation of MMR genes: 1 had a mutation in MutL homolog 1 (MLH1), 2 in MutS homolog 2 (MSH2), and 3 in MutS homolog 6 (MSH6). The sensitivity, specificity, positive predictive value (PPV), and negative predictive value (NPV) for identifying LS-EC were 33.3%, 88.6%, 14.3%, and 95.9%, for the clinical criteria, 66.7%, 75.0%, 14.3%, and 97.3% for IHC of MMR proteins, 100%, 89.9%, 33.3%, and 100% for MSI test, and 100%, 72.4%, 20.0% and 100% for combined IHC and MSI test, respectively. The combination of IHC and MSI test had higher sensitivity and PPV than the clinical criteria (p = 0.030). MSI test and IHC were highly concordant for LS-EC screening (73/77, 94.8%). Conclusion: The accuracy of the combination of IHC of MMR proteins and MSI test for screening LS among Chinese patients with EC was superior to that of the clinical criteria.

关键词： Endometrial carcinoma lynch syndrome Immunohistochemistry Microsatellite instability Germline mutations DNA mismatch repair genes

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Surveillance colonoscopy practice in lynch syndrome in the Netherlands:A nationwide survey

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World Journal of Gastroenterology 2007年第34期13卷 4658-4659页

作者： Jan J Koornstra Hans FA Vasen Department of Gastroenterology and Hepatology University Medical Centre Groningen University of Groningen Groningen The Netherlands The Netherlands Foundation for the Detection of Hereditary Tumors Department of Gastroenterology Leiden University Medical Centre Leiden The Netherlands

lynch syndrome, or hereditary nonpolyposis colorectal cancer (HNPCC), is the most common genetic disorder predisposing to colorectal cancer. As regular colonoscopic surveillance has been shown to reduce the incidence of colorectal cancer, this strategy is recommended worldwide. Recently, several advances in colonoscopic techniques have improved detection rates of neoplasia in lynch syndrome. In this nationwide survey, we evaluated current surveillance colonoscopy practices for lynch syndrome in the Netherlands and the extent to which advanced techniques have been adopted in routine clinical practice.

关键词： lynch syndrome Hereditary nonpolyposiscolorectal cancer Colonoscopy Surveillance Chromoendoscopy

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MutL homolog 1 germline mutation c.(453+1_454-1)_(545+1_546-1)del identified in lynch syndrome:A case report and review of literature

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World Journal of Clinical Cases 2022年第20期10卷 7105-7115页

作者： Xi-Wen Zhang Zan-Hui Jia Li-Ping Zhao Yi-Shi Wu Man-Hua Cui Yan Jia Tian-Min Xu Department of Gynecology The Second Hospital of Jilin UniversityChangchun 130000Jilin ProvinceChina

BACKGROUND lynch syndrome(LS)is an autosomal dominant hereditary disorder because of germline mutations in DNA mismatch repair genes,such as MutL homolog 1(MLH1),PMS1 homolog 2,MutS homolog 2,and MutS homolog *** mutations could make individuals and their families more susceptible to experiencing various malignant *** Chinese,MLH1 germline mutation c.(453+1_454-1)_(545+1_546-1)del-related LS has been infrequently ***,we report a rare LS patient with colorectal and endometrioid adenocarcinoma and describe her pedigree *** SUMMARY A 57-year-old female patient complained of irregular postmenopausal vaginal bleeding for 6 *** was diagnosed with LS,colonic malignancy,endometrioid adenocarcinoma,secondary fallopian tube malignancy,and intermyometrial ***,she was treated by abdominal hysterectomy,bilateral oviduct oophorectomy,and sentinel lymph node *** testing was performed using next-generation sequencing technology to detect the causative genetic ***,all her family members were offered a free genetic test,but no one accepted *** No tumor relapse or metastasis was found in the patient during the 30-mo followup *** genetic panel sequencing showed a novel pathogenic germline mutation in MLH1,c.(453+1_454-1)_(545+1_546-1)del,for ***,cancer genetic counseling and testing are still in the initial development state in China,and maybe face numerous challenges in the further.

关键词： lynch syndrome Colorectal cancer Endometrial cancer MLH1 gene Gene testing Case report

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Co-occurrence of germline pathogenic variants for different hereditary cancer syndromes in patients with lynch syndrome

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Cancer Communications 2021年第3期41卷 218-228页

作者： Rosario Ferrer-Avargues Maria Isabel Castillejo Estela Damaso Virginia Diez-Obrero Noemi Garrigos Tatiana Molina Alan Codoner-Alejos Angel Segura Ana Beatriz Sanchez-Heras Adela Castillejo Jose Luis Soto Foundation for the Promotion of Health and Biomedical Research of Valencia Region(FISABIO) FISABIO-Elche Health DepartmentElche 032303Spain Molecular Genetics Unit.Elche University Hospital Elche 032303Spain Department of Molecular Biopathology Immunological Center of AlicanteSan Juan-Alicante 03550Spain Medical Oncology Department Cancer Genetic Counseling Unit.La Fe University HospitalValencia 46026Spain Medical Oncology Department Cancer Genetic Counseling Unit.Elche University HospitalElche 03203Spain

Background:lynch syndrome(LS)is a hereditary condition characterized by a high risk of colorectal cancer,endometrial cancer,and other neoplasia associated with germline alterations in DNA mismatch repair *** classical genetic diagnostic strategy for LS consists of the Sanger sequencing of genes associated with the suspected ***-generation sequencing(NGS)enables the simultaneous sequencing of a large number of hereditary cancer ***,we aimed to study whether other germline pathogenic variants of hereditary cancer genes are present in patients with ***:A cohort of 84 probands with a previous genetic diagnosis of LS by Sanger sequencing was reanalyzed using NGS via a commercial panel of 94 hereditary cancer genes by hybrid *** American College of Medical Genetics and Genomics criteria were used to classify the clinical significance of the *** findings of NGS were confirmed by Sanger *** possible,genetic analyses of the new findings in the proband’s relativeswere also performed by Sanger ***:We identified five families(6%),out of 84,with at least two germline pathogenic variants conferring to high or moderate risk in different dominant cancer-predisposing genes:[MLH1-BRCA2-NBN],[MLH1-BRCA1],[MSH2-ATM],[MSH6-NF1],and[MLH1-FANCA].Interestingly,only one out of these five families exhibited a clinical phenotype associated with the new pathogenic *** family with three pathogenic variants of the[MLH1-BRCA2-NBN]genes showed a high aggregation of tumors associated with LS and breast and ovarian cancer ***:Our results showed that the co-occurrence of more than one pathogenic variant in cancer-predisposing genes was remarkable among cases of *** cases,no clinicial manifestations were associated with the secondary pathogenic *** studies are needed to confirm these findings and elucidate their clinical *** of LS families should be considered only in fa

关键词： cancer panel hereditary cancer lynch syndrome moderate penetrance genes multilocus inherited neoplasia alleles syndrome next-generation sequencing secondary findings

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