Prevalence of <i>BRCA1</i> c.5161C>T mutation in cancer patients from Bashkortostan
Introduction. Despite the significant progress in investigation of genetic susceptibility to cancers, there are still unclear questions in the field of molecular epidemiology. Numerous new data obtained using modern sequencing technologies require large case/control studies in different populations....
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| Format: | Article |
| Language: | Russian |
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ABV-press
2021-12-01
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| Series: | Успехи молекулярной онкологии |
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| Online Access: | https://umo.abvpress.ru/jour/article/view/393 |
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| author | M. A. Bermisheva G. F. Zinnatullina I. R. Gilyazova E. A. Ivanova D. D. Asadullina S. O. Potapov A. T. Mustafin R. R. Ishemgulov V. N. Pavlov Sh. K. Gantcev E. K. Khusnutdinova |
| author_facet | M. A. Bermisheva G. F. Zinnatullina I. R. Gilyazova E. A. Ivanova D. D. Asadullina S. O. Potapov A. T. Mustafin R. R. Ishemgulov V. N. Pavlov Sh. K. Gantcev E. K. Khusnutdinova |
| author_sort | M. A. Bermisheva |
| collection | DOAJ |
| description | Introduction. Despite the significant progress in investigation of genetic susceptibility to cancers, there are still unclear questions in the field of molecular epidemiology. Numerous new data obtained using modern sequencing technologies require large case/control studies in different populations.The study objective – to investigate the prevalence of BRCA1*c.5161C>T mutation in unselected breast, ovarian and prostate cancer patients from Bashkortostan.Materials and methods. In the presented study, the prevalence of the BRCA1*c.5161C>T mutation was assessed in breast cancer, ovarian cancer and prostate cancer patients (n = 696). The study cohorts includes individuals of Tatar and Bashkir ethnic origin living in Bashkortostan Republic.Results. The BRCA1 mutation c.5161C>T was detected in patients with breast cancer, ovarian cancer and prostate cancer in individuals of Tatar ethnic origin with a frequency of ~1,3 % (6/449), but not in Bashkirs. This mutation was also detected in two individuals of control group (2/700). We conclude that the contribution of the BRCA1 mutation c.5161C>T to hereditary breast, ovarian and prostate cancers, is likely to be small in Bashkortostan Republic.Conclusion. Further research will be required to investigate whether this mutation also plays a role in other populations of Turkic origin. |
| first_indexed | 2024-03-12T18:43:46Z |
| format | Article |
| id | doaj.art-693ef7d036324acf87c7b575829bfc61 |
| institution | Directory Open Access Journal |
| issn | 2313-805X 2413-3787 |
| language | Russian |
| last_indexed | 2024-03-12T18:43:46Z |
| publishDate | 2021-12-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Успехи молекулярной онкологии |
| spelling | doaj.art-693ef7d036324acf87c7b575829bfc612023-08-02T07:48:01ZrusABV-pressУспехи молекулярной онкологии2313-805X2413-37872021-12-0184849310.17650/2313-805X-2021-8-4-84-93227Prevalence of <i>BRCA1</i> c.5161C>T mutation in cancer patients from BashkortostanM. A. Bermisheva0G. F. Zinnatullina1I. R. Gilyazova2E. A. Ivanova3D. D. Asadullina4S. O. Potapov5A. T. Mustafin6R. R. Ishemgulov7V. N. Pavlov8Sh. K. Gantcev9E. K. Khusnutdinova10Институт биохимии и генетики ФГБНУ «Уфимский федеральный исследовательский центр» Российской академии наукГАУЗ «Республиканский клинический онкологический диспансер» Минздрава Республики БашкортостанИнститут биохимии и генетики ФГБНУ «Уфимский федеральный исследовательский центр» Российской академии наукИнститут биохимии и генетики ФГБНУ «Уфимский федеральный исследовательский центр» Российской академии наукИнститут биохимии и генетики ФГБНУ «Уфимский федеральный исследовательский центр» Российской академии наукГАУЗ «Республиканский клинический онкологический диспансер» Минздрава Республики БашкортостанФГБОУ ВО «Башкирский государственный медицинский университет» Минздрава РоссииФГБОУ ВО «Башкирский государственный медицинский университет» Минздрава РоссииФГБОУ ВО «Башкирский государственный медицинский университет» Минздрава РоссииФГБОУ ВО «Башкирский государственный медицинский университет» Минздрава РоссииИнститут биохимии и генетики ФГБНУ «Уфимский федеральный исследовательский центр» Российской академии наукIntroduction. Despite the significant progress in investigation of genetic susceptibility to cancers, there are still unclear questions in the field of molecular epidemiology. Numerous new data obtained using modern sequencing technologies require large case/control studies in different populations.The study objective – to investigate the prevalence of BRCA1*c.5161C>T mutation in unselected breast, ovarian and prostate cancer patients from Bashkortostan.Materials and methods. In the presented study, the prevalence of the BRCA1*c.5161C>T mutation was assessed in breast cancer, ovarian cancer and prostate cancer patients (n = 696). The study cohorts includes individuals of Tatar and Bashkir ethnic origin living in Bashkortostan Republic.Results. The BRCA1 mutation c.5161C>T was detected in patients with breast cancer, ovarian cancer and prostate cancer in individuals of Tatar ethnic origin with a frequency of ~1,3 % (6/449), but not in Bashkirs. This mutation was also detected in two individuals of control group (2/700). We conclude that the contribution of the BRCA1 mutation c.5161C>T to hereditary breast, ovarian and prostate cancers, is likely to be small in Bashkortostan Republic.Conclusion. Further research will be required to investigate whether this mutation also plays a role in other populations of Turkic origin.https://umo.abvpress.ru/jour/article/view/393рак молочной железырак яичниковрак предстательной железыгенмутациягенетическая предрасположенностьэтническая принадлежность<i>brca1</i> |
| spellingShingle | M. A. Bermisheva G. F. Zinnatullina I. R. Gilyazova E. A. Ivanova D. D. Asadullina S. O. Potapov A. T. Mustafin R. R. Ishemgulov V. N. Pavlov Sh. K. Gantcev E. K. Khusnutdinova Prevalence of <i>BRCA1</i> c.5161C>T mutation in cancer patients from Bashkortostan Успехи молекулярной онкологии рак молочной железы рак яичников рак предстательной железы ген мутация генетическая предрасположенность этническая принадлежность <i>brca1</i> |
| title | Prevalence of <i>BRCA1</i> c.5161C>T mutation in cancer patients from Bashkortostan |
| title_full | Prevalence of <i>BRCA1</i> c.5161C>T mutation in cancer patients from Bashkortostan |
| title_fullStr | Prevalence of <i>BRCA1</i> c.5161C>T mutation in cancer patients from Bashkortostan |
| title_full_unstemmed | Prevalence of <i>BRCA1</i> c.5161C>T mutation in cancer patients from Bashkortostan |
| title_short | Prevalence of <i>BRCA1</i> c.5161C>T mutation in cancer patients from Bashkortostan |
| title_sort | prevalence of i brca1 i c 5161c t mutation in cancer patients from bashkortostan |
| topic | рак молочной железы рак яичников рак предстательной железы ген мутация генетическая предрасположенность этническая принадлежность <i>brca1</i> |
| url | https://umo.abvpress.ru/jour/article/view/393 |
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