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NCT Number: NCT05495776

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

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

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Key information

About this study

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.

Who can participate

Healthy volunteers accepted: No

Only the study team can determine whether someone qualifies for participation.

Inclusion criteria

  • Provision of written informed consent;
  • Patients with histologically verified colon adenocarcinoma or patients with histologically verified synchronous neoplasms who have not previously received treatment for a second tumor;
  • Age ≥ 18 years;
  • Absence of antitumor treatment for a real tumor (it is allowed to include patients who have a history of antitumor treatment for other malignant tumors, if the period after treatment is more than 12 months).
  • The ability of the patient, according to the Researcher, to fulfill the requirements of the Protocol;

Exclusion criteria

  • Patients receiving chemotherapy or radiotherapy for colon cancer at the time of screening

Treatment and study plan

Primary outcomes

  1. Frequency of microsatellite instability and Lynch syndrome

    Time frame: up to 5 years

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

Secondary outcomes

  1. Frequency of occurrence of microsatellite instability/deficiency

    Time frame: up to 5 years

    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.

  2. Spectrum of germinal mutations in Lynch syndrome

    Time frame: up to 5 years

    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.

  3. Spectrum of malignant neoplasms

    Time frame: up to 5 years

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

  4. Effectiveness of therapy with immune checkpoint inhibitors

    Time frame: up to 5 years

    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

  5. Impact of the presence of microsatellite instability/deficiency

    Time frame: up to 5 years

    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

Study contacts

Contact information is provided by the study sponsor or research team.

Alexey Tsukanov, PhD

CONTACT

[email protected]

+7 (916) 7563957

Dmitrii Semenov, PhD

CONTACT

[email protected]

+7 (985) 2632870

Sponsors and collaborators

Lead sponsor

State Scientific Centre of Coloproctology, Russian Federation

Other Gov

Collaborators

  • Botkin Hospital MHD
  • City Clinical Oncological Hospital No. 1 MHD
  • Clinic K+31
  • D.D. Pletnev City Clinical Hospital MHD
  • Moscow City Oncological Hospital No. 62 MHD
  • Moscow Multidisciplinary Clinical Center "Kommunarka"
  • Pirogov National Medical and Surgical Center
  • The Loginov MCSC MHD

Registry information

Acronym: MSIRus22

Important dates

Study start
2022
Primary completion
2025
Study completion
2028
First posted
Aug 10, 2022
Registry last updated
Oct 25, 2022

OpenTrials presents study information sourced from ClinicalTrials.gov. The official registry record should be consulted for the latest information.

View the official ClinicalTrials.gov record (opens in a new tab)

This listing is for discovery and informational purposes only. It is not medical advice, does not guarantee that a study is recruiting, and does not determine eligibility. Contact the study team and a qualified healthcare professional when considering participation.

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