Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis
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-penetranc...
| Main Authors: | , , , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2023-12-01
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| Series: | Cancers |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2072-6694/16/1/85 |
| _version_ | 1797359077022498816 |
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| author | Airat Bilyalov Anastasiia Danishevich Sergey Nikolaev Nikita Vorobyov Ivan Abramov Ekaterina Pismennaya Svetlana Terehova Yuliya Kosilova Anastasiia Primak Uglesha Stanoevich Tatyana Lisica German Shipulin Sergey Gamayunov Elena Kolesnikova Igor Khatkov Oleg Gusev Natalia Bodunova |
| author_facet | Airat Bilyalov Anastasiia Danishevich Sergey Nikolaev Nikita Vorobyov Ivan Abramov Ekaterina Pismennaya Svetlana Terehova Yuliya Kosilova Anastasiia Primak Uglesha Stanoevich Tatyana Lisica German Shipulin Sergey Gamayunov Elena Kolesnikova Igor Khatkov Oleg Gusev Natalia Bodunova |
| author_sort | Airat Bilyalov |
| collection | DOAJ |
| description | 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. <i>BRCA1/BRCA2</i> mutations predominated, followed by the <i>CHEK2</i> and <i>ATM</i> variants. Of note, 16 previously undescribed variants were identified in the <i>MUTYH</i>, <i>GALNT12</i>, <i>MSH2</i>, <i>MLH1</i>, <i>MLH3</i>, <i>EPCAM</i>, and <i>POLE</i> 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. |
| first_indexed | 2024-03-08T15:10:26Z |
| format | Article |
| id | doaj.art-6bc9241dfd454407a6a45882541c4b61 |
| institution | Directory Open Access Journal |
| issn | 2072-6694 |
| language | English |
| last_indexed | 2024-03-08T15:10:26Z |
| publishDate | 2023-12-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cancers |
| spelling | doaj.art-6bc9241dfd454407a6a45882541c4b612024-01-10T14:52:34ZengMDPI AGCancers2072-66942023-12-011618510.3390/cancers16010085Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene AnalysisAirat Bilyalov0Anastasiia Danishevich1Sergey Nikolaev2Nikita Vorobyov3Ivan Abramov4Ekaterina Pismennaya5Svetlana Terehova6Yuliya Kosilova7Anastasiia Primak8Uglesha Stanoevich9Tatyana Lisica10German Shipulin11Sergey Gamayunov12Elena Kolesnikova13Igor Khatkov14Oleg Gusev15Natalia Bodunova16Institute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, RussiaSBHI Moscow Clinical Scientific Center Named after Loginov MHD, 111123 Moscow, RussiaSBHI Moscow Clinical Scientific Center Named after Loginov MHD, 111123 Moscow, RussiaSBHI Moscow Clinical Scientific Center Named after Loginov MHD, 111123 Moscow, RussiaSBHI Moscow Clinical Scientific Center Named after Loginov MHD, 111123 Moscow, RussiaMinistry of Health Kursk Region, 305000 Kursk, RussiaKursk Regional Scientific and Clinical Center Named after G. Y. Ostroverkhov, 305524 Kursk, RussiaKursk Regional Scientific and Clinical Center Named after G. Y. Ostroverkhov, 305524 Kursk, RussiaKursk Regional Scientific and Clinical Center Named after G. Y. Ostroverkhov, 305524 Kursk, RussiaKursk Regional Scientific and Clinical Center Named after G. Y. Ostroverkhov, 305524 Kursk, RussiaCentre for Strategic Planning and Management of Biomedical Health Risks, Federal Medical and Biological Agency, 119435 Moscow, RussiaCentre for Strategic Planning and Management of Biomedical Health Risks, Federal Medical and Biological Agency, 119435 Moscow, RussiaNizhny Novgorod Regional Oncologic Hospital, 603163 Nizhny Novgorod, RussiaNizhny Novgorod Regional Oncologic Hospital, 603163 Nizhny Novgorod, RussiaSBHI Moscow Clinical Scientific Center Named after Loginov MHD, 111123 Moscow, RussiaInstitute of Fundamental Medicine and Biology, Kazan Federal University, 420008 Kazan, RussiaSBHI Moscow Clinical Scientific Center Named after Loginov MHD, 111123 Moscow, RussiaCancer 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. <i>BRCA1/BRCA2</i> mutations predominated, followed by the <i>CHEK2</i> and <i>ATM</i> variants. Of note, 16 previously undescribed variants were identified in the <i>MUTYH</i>, <i>GALNT12</i>, <i>MSH2</i>, <i>MLH1</i>, <i>MLH3</i>, <i>EPCAM</i>, and <i>POLE</i> 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.https://www.mdpi.com/2072-6694/16/1/85NGScancermultigene panel |
| spellingShingle | Airat Bilyalov Anastasiia Danishevich Sergey Nikolaev Nikita Vorobyov Ivan Abramov Ekaterina Pismennaya Svetlana Terehova Yuliya Kosilova Anastasiia Primak Uglesha Stanoevich Tatyana Lisica German Shipulin Sergey Gamayunov Elena Kolesnikova Igor Khatkov Oleg Gusev Natalia Bodunova Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis Cancers NGS cancer multigene panel |
| title | Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis |
| title_full | Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis |
| title_fullStr | Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis |
| title_full_unstemmed | Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis |
| title_short | Novel Pathogenic Variants in Hereditary Cancer Syndromes in a Highly Heterogeneous Cohort of Patients: Insights from Multigene Analysis |
| title_sort | novel pathogenic variants in hereditary cancer syndromes in a highly heterogeneous cohort of patients insights from multigene analysis |
| topic | NGS cancer multigene panel |
| url | https://www.mdpi.com/2072-6694/16/1/85 |
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