| Autor: |
Bilyalov A; Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia.; SBHI Moscow Clinical Scientific Center Named after Loginov MHD, 111123 Moscow, Russia., Danishevich A; SBHI Moscow Clinical Scientific Center Named after Loginov MHD, 111123 Moscow, Russia., Nikolaev S; SBHI Moscow Clinical Scientific Center Named after Loginov MHD, 111123 Moscow, Russia., Vorobyov N; SBHI Moscow Clinical Scientific Center Named after Loginov MHD, 111123 Moscow, Russia., Abramov I; SBHI Moscow Clinical Scientific Center Named after Loginov MHD, 111123 Moscow, Russia.; The Federal State Budgetary Scientific Institution 'Izmerov Research Institute of Occupational Health', 105275 Moscow, Russia., Pismennaya E; Ministry of Health Kursk Region, 305000 Kursk, Russia., Terehova S; Kursk Regional Scientific and Clinical Center Named after G. Y. Ostroverkhov, 305524 Kursk, Russia., Kosilova Y; Kursk Regional Scientific and Clinical Center Named after G. Y. Ostroverkhov, 305524 Kursk, Russia., Primak A; Kursk Regional Scientific and Clinical Center Named after G. Y. Ostroverkhov, 305524 Kursk, Russia., Stanoevich U; Kursk Regional Scientific and Clinical Center Named after G. Y. Ostroverkhov, 305524 Kursk, Russia., Lisica T; Centre for Strategic Planning and Management of Biomedical Health Risks, Federal Medical and Biological Agency, 119435 Moscow, Russia., Shipulin G; Centre for Strategic Planning and Management of Biomedical Health Risks, Federal Medical and Biological Agency, 119435 Moscow, Russia., Gamayunov S; Nizhny Novgorod Regional Oncologic Hospital, 603163 Nizhny Novgorod, Russia., Kolesnikova E; Nizhny Novgorod Regional Oncologic Hospital, 603163 Nizhny Novgorod, Russia., Khatkov I; SBHI Moscow Clinical Scientific Center Named after Loginov MHD, 111123 Moscow, Russia., Gusev O; Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, Russia.; Life Improvement by Future Technologies (LIFT) Center, 121205 Moscow, Russia., Bodunova N; SBHI Moscow Clinical Scientific Center Named after Loginov MHD, 111123 Moscow, Russia. |
| Abstrakt: |
Cancer is a major global public health challenge, affecting both quality of life and mortality. Recent advances in genetic research have uncovered hereditary cancer syndromes (HCS) that predispose individuals to malignant neoplasms. While traditional single-gene testing has focused on high-penetrance genes, the past decade has seen a shift toward multigene panels, which facilitate the analysis of multiple genes associated with specific HCS. This approach reveals variants in less-studied gene regions and improves our understanding of cancer predisposition. In a study composed of Russian patients with clinical signs of HCS, we used a multigene hereditary cancer panel and revealed 21.6% individuals with pathogenic or likely pathogenic genetic variants. BRCA1/BRCA2 mutations predominated, followed by the CHEK2 and ATM variants. Of note, 16 previously undescribed variants were identified in the MUTYH , GALNT12 , MSH2 , MLH1 , MLH3 , EPCAM , and POLE genes. The implications of the study extend to personalized cancer prevention and treatment strategies, especially in populations lacking extensive epidemiological data, such as Russia. Overall, our research provides valuable genetic insights that give the way for further investigation and advances in the understanding and management of hereditary cancer syndromes. |
