[The structure of pathogenic germline variants in colorectal cancer in Moscow patients].

Autor:	Semenova AB; City clinical oncology hospital No. 1, Moscow, Russia., Byakhova MM; City clinical oncology hospital No. 1, Moscow, Russia., Makarova MV; LLC «Evogen», Moscow, Russia., Galkin VN; City clinical oncology hospital No. 1, Moscow, Russia., Nemtsova MV; LLC «Evogen», Moscow, Russia., Chernevskiy DK; LLC «Evogen», Moscow, Russia., Danishevich AM; Moscow Clinical Scientific and Practical Center named after A.S. Loginov of the Department of Health of the City of Moscow, Moscow, Russia., Shatalov VG; City clinical oncology hospital No. 1, Moscow, Russia., Babkina AV; City clinical oncology hospital No. 1, Moscow, Russia., Popova NG; City clinical oncology hospital No. 1, Moscow, Russia., Gadzhieva SM; Department of Health of Moscow, Moscow, Russia.
Jazyk:	ruština
Zdroj:	Arkhiv patologii [Arkh Patol] 2023; Vol. 85 (6), pp. 16-25.
DOI:	10.17116/patol20238506116
Abstrakt:	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.
Databáze:	MEDLINE
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