The spectrum of BRCA1 gene mutations in early onset breast cancer patients from Russia
Aim of the study. Aim of the study was to estimate the occurrence of pathogenic mutations in the BRCA1 gene in Russian breast cancer patients.Material and methods. Complete coding sequence of the BRCA1 gene of 445 early onset breast cancer patients (under 40 years) from Novosibirsk region (Russia)...
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| Format: | Article |
| Language: | Russian |
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Russian Academy of Sciences, Tomsk National Research Medical Center
2018-09-01
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| Series: | Сибирский онкологический журнал |
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| Online Access: | https://www.siboncoj.ru/jour/article/view/816 |
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| author | M. S. Anisimenko G. A. Paul A. E. Kozyakov N. I. Gutkina D. A. Berdyugina A. Yu. Garanin A. V. Butorina E. V. Gornostaeva K. F. Khafizov Yu. V. Vyatkin D. N. Shtokalo S. P. Kovalenko |
| author_facet | M. S. Anisimenko G. A. Paul A. E. Kozyakov N. I. Gutkina D. A. Berdyugina A. Yu. Garanin A. V. Butorina E. V. Gornostaeva K. F. Khafizov Yu. V. Vyatkin D. N. Shtokalo S. P. Kovalenko |
| author_sort | M. S. Anisimenko |
| collection | DOAJ |
| description | Aim of the study. Aim of the study was to estimate the occurrence of pathogenic mutations in the BRCA1 gene in Russian breast cancer patients.Material and methods. Complete coding sequence of the BRCA1 gene of 445 early onset breast cancer patients (under 40 years) from Novosibirsk region (Russia) were analyzed by targeted Next Generation Sequencing (NGS) using Ion Torrent platform. Results. Forty (9%) carriers of various pathogenic mutations were revealed. Thirty five (7,9%) patients carried 5382insC mutation, described earlier as a founder mutation for Slavic population. Five (1.1%) patients carried various pathogenic mutations, namely C61G, 462delCC, E143X, 4153delA, and IVS18+1G>T. Besides, 29 genetic variants with no clinical significance or with unknown clinical significance were detected in BRCA1 gene among 445 early onset breast cancer patients. Conclusions. Data on the frequency of genetic variations in the BRCA1 gene among early onset breast cancer patients in the Novosibirsk Region (Russia) were obtained. Proportion of the 5382insC mutation is 87.5% of all pathogenic mutations in the BRCA1 gene found in patients. |
| format | Article |
| id | doaj-art-e8f4586fb9f3475097456d7988c4d278 |
| institution | Kabale University |
| issn | 1814-4861 2312-3168 |
| language | Russian |
| publishDate | 2018-09-01 |
| publisher | Russian Academy of Sciences, Tomsk National Research Medical Center |
| record_format | Article |
| series | Сибирский онкологический журнал |
| spelling | doaj-art-e8f4586fb9f3475097456d7988c4d2782025-08-20T03:35:48ZrusRussian Academy of Sciences, Tomsk National Research Medical CenterСибирский онкологический журнал1814-48612312-31682018-09-01174535810.21294/1814-4861-2018-17-4-53-58562The spectrum of BRCA1 gene mutations in early onset breast cancer patients from RussiaM. S. Anisimenko0G. A. Paul1A. E. Kozyakov2N. I. Gutkina3D. A. Berdyugina4A. Yu. Garanin5A. V. Butorina6E. V. Gornostaeva7K. F. Khafizov8Yu. V. Vyatkin9D. N. Shtokalo10S. P. Kovalenko11Federal Research Center of Fundamental and Translational Medicine BioLink LtdBioLink LtdNovosibirsk Regional Oncological ClinicFederal Research Center of Fundamental and Translational MedicineFederal Research Center of Fundamental and Translational Medicine BioLink LtdFederal Research Center of Fundamental and Translational Medicine BioLink LtdFederal Research Center of Fundamental and Translational Medicine BioLink LtdFederal Research Center of Fundamental and Translational Medicine BioLink LtdCentral Research Institute of EpidemiologyAcademGene LLCAcademGene LLC A.P. Ershov Institute of Informatics SystemsFederal Research Center of Fundamental and Translational Medicine BioLink Ltd Novosibirsk State UniversityAim of the study. Aim of the study was to estimate the occurrence of pathogenic mutations in the BRCA1 gene in Russian breast cancer patients.Material and methods. Complete coding sequence of the BRCA1 gene of 445 early onset breast cancer patients (under 40 years) from Novosibirsk region (Russia) were analyzed by targeted Next Generation Sequencing (NGS) using Ion Torrent platform. Results. Forty (9%) carriers of various pathogenic mutations were revealed. Thirty five (7,9%) patients carried 5382insC mutation, described earlier as a founder mutation for Slavic population. Five (1.1%) patients carried various pathogenic mutations, namely C61G, 462delCC, E143X, 4153delA, and IVS18+1G>T. Besides, 29 genetic variants with no clinical significance or with unknown clinical significance were detected in BRCA1 gene among 445 early onset breast cancer patients. Conclusions. Data on the frequency of genetic variations in the BRCA1 gene among early onset breast cancer patients in the Novosibirsk Region (Russia) were obtained. Proportion of the 5382insC mutation is 87.5% of all pathogenic mutations in the BRCA1 gene found in patients.https://www.siboncoj.ru/jour/article/view/816brca1 genemutationearly onset breast cancerhereditary cancerngstargeted sequencing |
| spellingShingle | M. S. Anisimenko G. A. Paul A. E. Kozyakov N. I. Gutkina D. A. Berdyugina A. Yu. Garanin A. V. Butorina E. V. Gornostaeva K. F. Khafizov Yu. V. Vyatkin D. N. Shtokalo S. P. Kovalenko The spectrum of BRCA1 gene mutations in early onset breast cancer patients from Russia Сибирский онкологический журнал brca1 gene mutation early onset breast cancer hereditary cancer ngs targeted sequencing |
| title | The spectrum of BRCA1 gene mutations in early onset breast cancer patients from Russia |
| title_full | The spectrum of BRCA1 gene mutations in early onset breast cancer patients from Russia |
| title_fullStr | The spectrum of BRCA1 gene mutations in early onset breast cancer patients from Russia |
| title_full_unstemmed | The spectrum of BRCA1 gene mutations in early onset breast cancer patients from Russia |
| title_short | The spectrum of BRCA1 gene mutations in early onset breast cancer patients from Russia |
| title_sort | spectrum of brca1 gene mutations in early onset breast cancer patients from russia |
| topic | brca1 gene mutation early onset breast cancer hereditary cancer ngs targeted sequencing |
| url | https://www.siboncoj.ru/jour/article/view/816 |
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