Prospective multicenter registry study to assess the frequency of Lynch syndrome among patients with colorectal cancer in Russia
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).
None
Patients with colon adenocarcinoma who have not previously received antitumor treatment (chemo/radiation therapy) for a currently detected tumor
Cohort
Prospective
Not listed
Frequency of microsatellite instability and Lynch syndrome
To assess the frequency of microsatellite instability and Lynch syndrome in the population of patients with colorectal cancer in the Russian Federation.
Frequency of occurrence of microsatellite instability/deficiency
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.
Spectrum of germinal mutations in Lynch syndrome
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.
Spectrum of malignant neoplasms
The family history of all oncological diseases will be studied to find out the main target organs of patients with Lynch syndrome in Russia
Effectiveness of therapy with immune checkpoint inhibitors
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
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State Scientific Centre of Coloproctology, Russian Federation
Lead sponsor
The Loginov MCSC MHD
Collaborator
Pirogov National Medical and Surgical Center
Collaborator
Moscow City Oncological Hospital No. 62 MHD
Collaborator
City Clinical Oncological Hospital No. 1 MHD
Collaborator
Moscow Multidisciplinary Clinical Center "Kommunarka"
Collaborator
D.D. Pletnev City Clinical Hospital MHD
Collaborator
Botkin Hospital MHD
Collaborator
Clinic K+31
Collaborator
