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Objective: Describe the structure of pathogenic germline variants and clinical and anatomical features in colorectal cancer patients in Moscow., Material and Methods: The whole genome sequencing results of patients with suspected hereditary cancer syndrome were evaluated. All identified genetic variants were validated using Sanger sequencing., Results: The study included 238 patients with colorectal cancer, 41/238 (17.2%) patients have pathogenic germline variants associated with hereditary cancer syndromes or increased cancer risk. Lynch syndrome accounts for 8% of all colorectal cancer cases (19/238), and familial adenomatous polyposis - 1.7% (4/238). 5 new genetic variants were described for the first time in a Russian colorectal cancer patients: MLH1 c.1921dup (p.Leu641fs), APC c.2929C>T (p.Gln977Ter), PMS2 c.327del (p.Ala110LeufsTer2), MSH2 c.1857dup (p. Val620CysfsTer24), ATM c.895G>T (p.Glu299Ter). In 197 of 238 patients, no significant variants were identified or variants with an uncertain clinical underlying cause were identified., Conclusion: According to the results of the study, an earlier manifestation of a malignant neoplasm and a more frequent occurrence of high-grade carcinomas in the presence of pathogenic germline mutations were noted compared to the group of patients without clinically significant varianrs, while in the group with identified mutations, the frequency of regional and distant metastasis was not increased.

46 cases of nonendometrial carcinoma of the corpus uteri have been studied. The expressions of E-cadherin, alpha and beta-catenins were detected by immunohistochemical method. The high level of studied markers expression was founded out in clear cell carcinoma, whereas the less expression was detected in the corpus uteri of patients with serous, papillary, undifferentiated and mixed cancer. The absence of E-cadherin, alpha and beta-catenins complex expression correlated with unfavorable clinic-morphological features of carcinoma.