Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan
Abstract About 5–10% of all ovarian cancer cases show familial clustering, and some 15–25% of familial ovarian cancer cases are mediated by high-penetrance mutations in the BRCA1 and BRCA2 genes. Only few other genes have been identified for familial ovarian cancer. We conducted targeted next-genera...
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| Format: | Article |
| Language: | English |
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BMC
2023-04-01
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| Series: | Journal of Ovarian Research |
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| Online Access: | https://doi.org/10.1186/s13048-023-01119-z |
| _version_ | 1797849882125402112 |
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| author | D. S. Prokofyeva E. T. Mingazheva Ya. V. Valova D. D. Sakaeva R. R. Faishanova A. Kh. Nurgalieva R. R. Valiev N. Bogdanova T. Dörk E. K. Khusnutdinova |
| author_facet | D. S. Prokofyeva E. T. Mingazheva Ya. V. Valova D. D. Sakaeva R. R. Faishanova A. Kh. Nurgalieva R. R. Valiev N. Bogdanova T. Dörk E. K. Khusnutdinova |
| author_sort | D. S. Prokofyeva |
| collection | DOAJ |
| description | Abstract About 5–10% of all ovarian cancer cases show familial clustering, and some 15–25% of familial ovarian cancer cases are mediated by high-penetrance mutations in the BRCA1 and BRCA2 genes. Only few other genes have been identified for familial ovarian cancer. We conducted targeted next-generation sequencing of the protein coding region of 21 candidate genes, including UTR regions, in genomic DNA samples of 48 patients with familial ovarian cancer from the Republic of Bashkortostan. We identified deleterious variants in BRCA1, BRCA2, CHEK2, MSH6 and NBN in a total of 16 patients (33%). The NBN truncating variant, p.W143X, had not previously been reported. Seven patients (15%) were carriers of the c.5266dupC variant in BRCA1, supporting a Russian origin of this founder allele. An additional 15 variants of uncertain clinical significance were observed. We conclude that our gene panel explains about one-third of familial ovarian cancer risk in the Republic of Bashkortostan. |
| first_indexed | 2024-04-09T18:51:20Z |
| format | Article |
| id | doaj.art-1c806737a7154808ae75ff4705377b03 |
| institution | Directory Open Access Journal |
| issn | 1757-2215 |
| language | English |
| last_indexed | 2024-04-09T18:51:20Z |
| publishDate | 2023-04-01 |
| publisher | BMC |
| record_format | Article |
| series | Journal of Ovarian Research |
| spelling | doaj.art-1c806737a7154808ae75ff4705377b032023-04-09T11:24:20ZengBMCJournal of Ovarian Research1757-22152023-04-011611810.1186/s13048-023-01119-zTargeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of BashkortostanD. S. Prokofyeva0E. T. Mingazheva1Ya. V. Valova2D. D. Sakaeva3R. R. Faishanova4A. Kh. Nurgalieva5R. R. Valiev6N. Bogdanova7T. Dörk8E. K. Khusnutdinova9Federal State Budgetary Educational Institution of Higher Education, Ufa University of Science and TechnologyFederal State Budgetary Educational Institution of Higher Education, Ufa University of Science and TechnologyFederal State Budgetary Educational Institution of Higher Education, Ufa University of Science and TechnologyMinistry of Health of the Republic of Bashkortostan State Autonomous Healthcare Institution, Republican Clinical Oncology CenterMinistry of Health of the Republic of Bashkortostan State Autonomous Healthcare Institution, Republican Clinical Oncology CenterFederal State Budgetary Educational Institution of Higher Education, Ufa University of Science and TechnologyFederal State Budgetary Educational Institution of Higher Education, Ufa University of Science and TechnologyDepartment of Obstetrics and Gynecology, Hannover Medical SchoolDepartment of Obstetrics and Gynecology, Hannover Medical SchoolFederal State Budgetary Educational Institution of Higher Education, Ufa University of Science and TechnologyAbstract About 5–10% of all ovarian cancer cases show familial clustering, and some 15–25% of familial ovarian cancer cases are mediated by high-penetrance mutations in the BRCA1 and BRCA2 genes. Only few other genes have been identified for familial ovarian cancer. We conducted targeted next-generation sequencing of the protein coding region of 21 candidate genes, including UTR regions, in genomic DNA samples of 48 patients with familial ovarian cancer from the Republic of Bashkortostan. We identified deleterious variants in BRCA1, BRCA2, CHEK2, MSH6 and NBN in a total of 16 patients (33%). The NBN truncating variant, p.W143X, had not previously been reported. Seven patients (15%) were carriers of the c.5266dupC variant in BRCA1, supporting a Russian origin of this founder allele. An additional 15 variants of uncertain clinical significance were observed. We conclude that our gene panel explains about one-third of familial ovarian cancer risk in the Republic of Bashkortostan.https://doi.org/10.1186/s13048-023-01119-zHereditary ovarian cancerTarget sequencingGermline mutationsPathogenic variantsLikely pathogenic variants |
| spellingShingle | D. S. Prokofyeva E. T. Mingazheva Ya. V. Valova D. D. Sakaeva R. R. Faishanova A. Kh. Nurgalieva R. R. Valiev N. Bogdanova T. Dörk E. K. Khusnutdinova Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan Journal of Ovarian Research Hereditary ovarian cancer Target sequencing Germline mutations Pathogenic variants Likely pathogenic variants |
| title | Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan |
| title_full | Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan |
| title_fullStr | Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan |
| title_full_unstemmed | Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan |
| title_short | Targeted next-generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the Republic of Bashkortostan |
| title_sort | targeted next generation sequencing of 21 candidate genes in hereditary ovarian cancer patients from the republic of bashkortostan |
| topic | Hereditary ovarian cancer Target sequencing Germline mutations Pathogenic variants Likely pathogenic variants |
| url | https://doi.org/10.1186/s13048-023-01119-z |
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