Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment
The present study offers extensive genetic data on the Russian population, critical for future genetic research and improved primary cancer prevention and genetic screening strategies. The proposed hybrid assessment algorithm streamlines variant prioritization and pathogenicity assessment and offers a reliable and verifiable way of identifying variants of uncertain significance that need to be manually reviewed.
Authors
- Liliya A. Golubnikova
- Irina Dzhumaniiazova (ORCID: https://orcid.org/0000-0001-5167-2112)
- Anton А. Keskinov (ORCID: https://orcid.org/0000-0001-7378-983X)
- A. M. Rumyantseva (ORCID: https://orcid.org/0009-0006-4830-8057)
- Д. А. Каштанова (ORCID: https://orcid.org/0000-0001-8977-4384)
- K. S. Grammatikati (ORCID: https://orcid.org/0000-0001-9745-214X)
- Еlena Zelenova (ORCID: https://orcid.org/0000-0003-4604-7261)
- М. В. Иванов (ORCID: https://orcid.org/0000-0001-7829-2486)
- В. В. Макаров (ORCID: https://orcid.org/0000-0001-9495-0266)
- V. S. Yudin (ORCID: https://orcid.org/0000-0002-9199-6258)
- Sergey Yudin
- А. А. Мамчур (ORCID: https://orcid.org/0000-0002-6025-7663)
- Sergey I. Mitrofanov (ORCID: https://orcid.org/0000-0003-0358-0568)
- Mikhail Terekhov (ORCID: https://orcid.org/0009-0005-7403-3731)
- Irina Kalashnikova (ORCID: https://orcid.org/0009-0003-8764-3286)
- Mariia Gusakova
Institutions
- Federal Agency for Health and Social Development (RU)
- Federal Medical-Biological Agency (RU)
Publication Details
- Journal
- Frontiers in Oncology
- Published
- 2024-09-05
- DOI
- https://doi.org/10.3389/fonc.2024.1420176
- Citations
- 4
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 2.20