Clinical trial NCT05495776: Prospective Multicenter Registry Study to Assess the Frequency of Lynch Syndrome Among Patients With Colorectal Cancer
Official title: Prospective Multicenter Registry Study to Assess the Frequency of Lynch Syndrome Among Patients With Colorectal Cancer
Study type: OBSERVATIONAL
Overall status: RECRUITING
Conditions: Colorectal Cancer
Lynch Syndrome
Hereditary Colorectal Cancer
MSI
Keywords: Colorectal Cancer
Lynch Syndrome
Hereditary Colorectal Cancer
MSI
Frequency
Lead sponsor: State Scientific Centre of Coloproctology, Russian Federation
Sponsor class: OTHER_GOV
Collaborators: name: The Loginov MCSC MHD
name: Pirogov National Medical and Surgical Center
name: Moscow City Oncological Hospital No. 62 MHD
name: City Clinical Oncological Hospital No. 1 MHD
name: MMCC Kommunarka MHD
name: D.D. Pletnev City Clinical Hospital MHD
name: Botkin Hospital MHD
name: Clinic K+31
First posted: 2022-08-10
Enrollment: 2500
Sex: ALL
Minimum age (years): 18
Standard ages: ADULT
OLDER_ADULT
Accepts healthy volunteers: no
Observational model: COHORT
Time perspective: PROSPECTIVE
Sampling method: PROBABILITY_SAMPLE
Study population: Patients with colon adenocarcinoma who have not previously received antitumor treatment (chemo/radiation therapy) for a currently detected tumor

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

Detailed description: 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.

Eligibility criteria: 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

Primary outcomes:
measure: Frequency of microsatellite instability and Lynch syndrome
timeFrame: up to 5 years
Secondary outcomes:
measure: Frequency of occurrence of microsatellite instability/deficiency
timeFrame: up to 5 years
measure: Spectrum of germinal mutations in Lynch syndrome
timeFrame: up to 5 years
measure: Spectrum of malignant neoplasms
timeFrame: up to 5 years
measure: Effectiveness of therapy with immune checkpoint inhibitors
timeFrame: up to 5 years
measure: Impact of the presence of microsatellite instability/deficiency
timeFrame: up to 5 years
Other outcomes:
Locations:
city: Moscow
country: Russian Federation
facility: State Scientific Centre of Coloproctology
Study officials:
affiliation: Head of the Department of Laboratory Genetics
name: Alexey Tsukanov, PhD
role: PRINCIPAL_INVESTIGATOR
References: