1. [The structure of pathogenic germline variants in colorectal cancer in Moscow patients].
- Author
-
Semenova AB, Byakhova MM, Makarova MV, Galkin VN, Nemtsova MV, Chernevskiy DK, Danishevich AM, Shatalov VG, Babkina AV, Popova NG, and Gadzhieva SM
- Subjects
- Humans, Germ-Line Mutation genetics, Moscow epidemiology, Germ Cells pathology, Genetic Predisposition to Disease, Adenomatous Polyposis Coli epidemiology, Adenomatous Polyposis Coli genetics, Adenomatous Polyposis Coli pathology, Colorectal Neoplasms, Hereditary Nonpolyposis epidemiology, Colorectal Neoplasms, Hereditary Nonpolyposis genetics, Colorectal Neoplasms epidemiology, Colorectal Neoplasms genetics
- Abstract
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.
- Published
- 2023
- Full Text
- View/download PDF