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Cola

Patients with colon adenocarcinoma who have not previously received antitumor treatment (chemo/radiation therapy) for a currently detected tumor

Dmitrii Semenov, PhD

Alexey Tsukanov, PhD

Alexey Tsukanov, Phd

Prospective multicenter registry study to assess the frequency of Lynch syndrome among patients with colorectal cancer in Russia

Blood and tumor samples will be obtained from enrolled patients. 4 ml of venous blood samples will be taken into a tube with EDTA and stored at -20 0C. Tumor samples will be taken during endoscopy or surgical treatment, embedded in paraffin and stored at room temperature.

Microsatellite instability in the tumor tissue will be determined by any method available in the participating center (immunohistochemical or molecular genetic study). In case of detection of microsatellite instability/deficiency in the repair system of unpaired bases blood samples will be analyzed for the fact that germinal mutations in the DNA mismatch repair genes.

Patients will be followed up for 5 years after enrollment. During follow up correlation of spectrum of germinal mutations with clinical data, effectiveness of therapy with immune checkpoint inhibitors, the spectrum of malignant neoplasms in the families of patients with Lynch syndrome, the impact of the presence of microsatellite instability/deficiency in the DNA mismatch repair genes on treatment tactics in the Russian Federation will be assessed.

In case of microsatellite instability/deficiency in the repair system of unpaired bases, venous blood will be taken 4 ml into a test tube with EDTA with freezing at -20 \* C

Prospective Multicenter Registry Study to Assess the Frequency of Lynch Syndrome Among Patients With Colorectal Cancer

Before the start of the study, at the initiating visit, the monitor, together with the researchers and their staff, will review the protocol and the CRF. During the study, the monitor will regularly communicate remotely with the research center and check the process of inclusion of patients, the completeness of maintaining medical records of patients, the correctness of filling out the CRF. The researcher must provide the monitor with access to the relevant hospital documentation and other medical records to verify their compliance with the data recorded in the IRC. The data identifying the patient's identity will remain confidential.

To assess the frequency of microsatellite instability and Lynch syndrome in the population of patients with colorectal cancer in the Russian Federation.

Assessment of the frequency of occurrence of microsatellite instability/deficiency in the repair system of unpaired bases in second tumors in patients with colorectal cancer of various stages.

The mlh1, msh2, msh6, pms2 and epcam genes will be examined for the presence of all types of pathogenic variants in patients with MSI in colon tumor. The possible correlation of gene-phenotype and pathogenic variants of each gene-phenotype will also be studied. To detect MSI in a tumor sample, need to do the fragment analysis (markers NR21, NR24, NR27, BAT25, BAT26). Рatients with MSI in the tumor will have DNA diagnostics of MMR EPCAM genes by sequencing and MLPA . The MMR and EPCAM genes will be examined in DNA isolated from blood lymphocytes.

The family history of all oncological diseases will be studied to find out the main target organs of patients with Lynch syndrome in Russia

The frequency will be compared: the frequency of objective response rate (RECIST 1.1) while using immune checkpoint inhibitors in metastatic colon cancer and microsatellite instability associated/not associated with Lynch syndrome

The frequency of adjuvant chemotherapy in stages II-III of colon cancer in the presence of microsatellite instability / deficiency in the repair system of unpaired bases in real clinical practice will be evaluated

The Loginov MCSC MHD

Pirogov National Medical and Surgical Center

Moscow City Oncological Hospital No. 62 MHD

City Clinical Oncological Hospital No. 1 MHD

MMCC Kommunarka MHD

D.D. Pletnev City Clinical Hospital MHD

Botkin Hospital MHD

Clinic K+31

State Scientific Centre of Coloproctology, Russian Federation

Microsatellite Instability

Chromosomal Instability

Nicoline Hoogerbrugge, MD, PhD

Two major genetic pathways leading to colorectal carcinoma can well be distinguished; the 'suppressor pathway', which is characterized by inactivation of tumor-suppressor genes and the 'mutator pathway', which is characterized by microsatellite instability. The purpose of this study is to explore a third putative pathway; microsatellite and chromosome stable colorectal cancer where an alternative cancer-causative mechanism might play a role.

Patients with familial colorectal cancer will be characterized with respect to family history, medical history and demographic characteristics. The histopathology of the tumors will be reviewed. Tumor specimens will be analysed on molecular defects.

Clinical and Molecular Characterization of Familial Microsatellite Stable Colorectal Cancer

Radboud University Medical Center

Genetic Predisposition to Disease

Disease Susceptibility

Disease Attributes

Fangqi Liu, M.D. Ph.D.

Fangqi Liu, M.D. Ph.D

This is a prospective, single-center, clinical study.This study is to evaluate the feasibility of genetic susceptibility screening based on the detection of tumor tissue mutations by a NGS panel.

In this study, gene mutation profiling was performed on primary tissue samples from colorectal cancer patients who met relevant clinical screening criteria, unearthing suspected germline pathogenic mutations. At the same time, germline mutation detection was performed on peripheral blood leukocytes of patients, and the consistency between suspected germline mutations in tumor somatic mutation detection and control leukocytes was compared. Establishing the feasibility of tumor somatic mutation-based detection to guide genetic susceptibility screening.Pedigree verification will be carried out for blood relatives of patients with germline mutations which have been identified for colorectal cancer.Through the tumor somatic and germline gene mutation profiles of Chinese hereditary colorectal cancer patients, it reveals the molecular characteristics of hereditary colorectal cancer in Asian populations and provides molecular-level evidence for possible subsequent clinical diagnosis and treatment.

Next-generation Sequencing of Colorectal Cancer Somatic Cells to Guide Genetic Susceptibility Gene Mutations Screening.

An Exploratory Study of Next-generation Sequencing in Colorectal Cancer Somatic Cells to Guide Screening for Genetic Susceptibility Gene Mutations.

Assessing the sensitivity, specificity, positive predictive value, and negative predictive value of genetic susceptibility gene mutations screening based on a targeted Next-generation sequencing panel.

Screening for leukocyte mutations in blood relatives of the hereditary colorectal cancer patients with germline mutations.Preliminary analysis of the distribution, clinical characteristics, molecular typing and prognosis of Chinese hereditary colorectal cancer patients and their families.

Gene map characteristics of tissue samples from colorectal cancer patients who meet the relevant clinical screening criteria and their correlations with clinical characteristics (age, gender, family history, etc.)

Fudan University

Education for professionals

Distribution of educational materials

Feedback for professionals

Reminders for professionals

Lucy I Overbeek, MSc

Nicoline Hoogerbrugge, MD PhD

Stan J Ketelaars, MD

Els JM Ahsmann, MD PhD

Jos Meijer, MD

Paul Blok, MD PhD

Pieter J Westenend, MD PhD

Ineke van Lijnschoten, MD PhD

Sietske Riemersma, MD

Ton Tiebosch, MD PhD

Cilia M Ferrier, MD PhD

Joris J Grond, MD PhD

Erik Thunnissen, MD PhD

Sonja Henzen, MD PhD

Anneke van der Wurff, MD PhD

Rosella P Hermens, MSc PhD

The purpose of this study is to compare two different strategies to implement a new method to identify patients with HNPCC, which appeared cost-effective and feasible. The effectiveness, costs and feasibility of both of the implementation strategies will be assessed.

The Radboud University Nijmegen Medical Centre developed a new method to identify patients with HNPCC. This method appeared cost-effective and feasible. Using this new method 70% of the HNPCC patients will be identified as compared to less than 30% when the current method is used. However, this new method does not implement itself; large gaps exists between best evidence and daily practice. This study will compare an intensive strategy, consisting of distribution of educational materials, education, feedback and reminders, with a minimal strategy, only consisting of distribution of a critical care pathway. The aim is to find the most cost-effective strategy to implement the new method to identify patients with HNPCC in the Netherlands.

Study title	NCT ID	Conditions	Interventions	Eligibility	Organization
Prospective Multicenter Registry Study to Assess the Frequency of Lynch Syndrome Among Patients With Colorectal Cancer	NCT05495776	Colorectal Canc... Lynch Syndrome Hereditary Colo... MSI		18 Years -	State Scientific Centre of Coloproctology, Russian Federation
Clinical and Molecular Characterization of Familial Microsatellite Stable Colorectal Cancer	NCT00220246	Colorectal Neop...		- 51 Years	Radboud University Medical Center
Next-generation Sequencing of Colorectal Cancer Somatic Cells to Guide Genetic Susceptibility Gene Mutations Screening.	NCT04280666	Hereditary Colo...		18 Years -	Fudan University
Implementation of a New Strategy to Identify HNPCC Patients	NCT00141466	Colorectal Neop... Hereditary Nonp...	Education for p... Distribution of... Feedback for pr... Reminders for p...	-	Radboud University Medical Center

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