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Prevalence of the cancer-associated germline variants in Russian adults and long-living individuals: using the ACMG recommendations and computational interpreters for pathogenicity assessment.
Gusakova, Mariia; Dzhumaniiazova, Irina; Zelenova, Elena; Kashtanova, Daria; Ivanov, Mikhail; Mamchur, Aleksandra; Rumyantseva, Antonina; Terekhov, Mikhail; Mitrofanov, Sergey; Golubnikova, Liliya; Akinshina, Aleksandra; Grammatikati, Konstantin; Kalashnikova, Irina; Yudin, Vladimir; Makarov, Valentin; Keskinov, Anton; Yudin, Sergey.
Afiliación
  • Gusakova M; The Federal State Budgetary Institution "Centre for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical Biological Agency, Moscow, Russia.
  • Dzhumaniiazova I; The Federal State Budgetary Institution "Centre for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical Biological Agency, Moscow, Russia.
  • Zelenova E; The Federal State Budgetary Institution "Centre for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical Biological Agency, Moscow, Russia.
  • Kashtanova D; The Federal State Budgetary Institution "Centre for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical Biological Agency, Moscow, Russia.
  • Ivanov M; The Federal State Budgetary Institution "Centre for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical Biological Agency, Moscow, Russia.
  • Mamchur A; The Federal State Budgetary Institution "Centre for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical Biological Agency, Moscow, Russia.
  • Rumyantseva A; The Federal State Budgetary Institution "Centre for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical Biological Agency, Moscow, Russia.
  • Terekhov M; The Federal State Budgetary Institution "Centre for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical Biological Agency, Moscow, Russia.
  • Mitrofanov S; The Federal State Budgetary Institution "Centre for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical Biological Agency, Moscow, Russia.
  • Golubnikova L; The Federal State Budgetary Institution "Centre for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical Biological Agency, Moscow, Russia.
  • Akinshina A; The Federal State Budgetary Institution "Centre for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical Biological Agency, Moscow, Russia.
  • Grammatikati K; The Federal State Budgetary Institution "Centre for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical Biological Agency, Moscow, Russia.
  • Kalashnikova I; The Federal State Budgetary Institution "Centre for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical Biological Agency, Moscow, Russia.
  • Yudin V; The Federal State Budgetary Institution "Centre for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical Biological Agency, Moscow, Russia.
  • Makarov V; The Federal State Budgetary Institution "Centre for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical Biological Agency, Moscow, Russia.
  • Keskinov A; The Federal State Budgetary Institution "Centre for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical Biological Agency, Moscow, Russia.
  • Yudin S; The Federal State Budgetary Institution "Centre for Strategic Planning and Management of Biomedical Health Risks" of the Federal Medical Biological Agency, Moscow, Russia.
Front Oncol ; 14: 1420176, 2024.
Article en En | MEDLINE | ID: mdl-39301547
ABSTRACT

Background:

Population studies are essential for gathering critical disease prevalence data. Automated pathogenicity assessment tools enhance the capacity to interpret and annotate large amounts of genetic data. In this study, we assessed the prevalence of cancer-associated germline variants in Russia using a semiautomated variant interpretation algorithm.

Methods:

We examined 74,996 Russian adults (Group 1) and 2,872 long-living individuals aged ≥ 90 years (Group 2) for variants in 28 ACMG-recommended cancer-associated genes in three

steps:

InterVar annotation; ClinVar interpretation; and a manual review of the prioritized variants based on the available data. Using the data on the place of birth and the region of residence, we determined the geographical distribution of the detected variants and tracked the migration dynamics of their carriers.

Results:

We report 175 novel del-VUSs. We detected 232 pathogenic variants, 46 likely pathogenic variants, and 216 del-VUSs in Group 1 and 19 pathogenic variants, 2 likely pathogenic variants, and 16 del-VUSs in Group 2. For each detected variant, we provide a description of its functional significance and geographical distribution.

Conclusion:

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.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Oncol Año: 2024 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Idioma: En Revista: Front Oncol Año: 2024 Tipo del documento: Article País de afiliación: Rusia Pais de publicación: Suiza