Incidence of premature ovarian failure and early menopause in carriers of <i>BRCA1</i> pathogenic variants
Aim. To determine the incidence of premature ovarian failure (POF) and early menopause with regard to reproductive status in carriers of the pathogenic variant of the BRCA1 gene. Materials and methods. According to the inclusion and exclusion criteria, out of 90 carriers of pathogenic variants of...
| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | Russian |
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IP Berlin A.V.
2022-11-01
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| Series: | Гинекология |
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| Online Access: | https://gynecology.orscience.ru/2079-5831/article/viewFile/100836/pdf |
| _version_ | 1828122963042369536 |
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| author | Sandra D. Rshtuni Galina E. Chernukha Andrew E. Donnikov Gyuzyal I. Tabeeva Olga V. Burmenskaya Larisa A. Marchenko |
| author_facet | Sandra D. Rshtuni Galina E. Chernukha Andrew E. Donnikov Gyuzyal I. Tabeeva Olga V. Burmenskaya Larisa A. Marchenko |
| author_sort | Sandra D. Rshtuni |
| collection | DOAJ |
| description | Aim. To determine the incidence of premature ovarian failure (POF) and early menopause with regard to reproductive status in carriers of the pathogenic variant of the BRCA1 gene.
Materials and methods. According to the inclusion and exclusion criteria, out of 90 carriers of pathogenic variants of the BRCA1 gene, 38 females were included in the study group, and 110 females without these pathogenic variants were included in the control group. The reproductive status, age of menopause onset, history of pelvic surgeries, and palliative care were evaluated in the study groups.
Results. The incidence of POF in the group of carriers of pathogenic variants of the BRCA1 gene was significantly higher compared to the control group (p0.004), while the incidence of early menopause showed no significant differences in the studied groups (13.2% vs. 4.5%, respectively; p0,069). No significant differences were found in the analysis of reproductive status.
Conclusions. Females with and without pathogenic variants of the BRCA1 gene did not differ significantly by the main indices of reproductive status. Carriers of pathogenic BRCA1 gene variants have a significantly higher incidence of POF vs. controls. Adverse effects of pathogenic BRCA gene variants on women's ovarian reserve and reproductive potential cannot be excluded. Healthy carriers of pathogenic variants of the BRCA1/2 gene are recommended to plan pregnancy in the early reproductive period. |
| first_indexed | 2024-04-11T14:44:36Z |
| format | Article |
| id | doaj.art-0ec7000a97b045fba13d11f517240882 |
| institution | Directory Open Access Journal |
| issn | 2079-5696 2079-5831 |
| language | Russian |
| last_indexed | 2024-04-11T14:44:36Z |
| publishDate | 2022-11-01 |
| publisher | IP Berlin A.V. |
| record_format | Article |
| series | Гинекология |
| spelling | doaj.art-0ec7000a97b045fba13d11f5172408822022-12-22T04:17:43ZrusIP Berlin A.V.Гинекология2079-56962079-58312022-11-0124537437910.26442/20795696.2022.5.20168879447Incidence of premature ovarian failure and early menopause in carriers of <i>BRCA1</i> pathogenic variantsSandra D. Rshtuni0Galina E. Chernukha1Andrew E. Donnikov2Gyuzyal I. Tabeeva3Olga V. Burmenskaya4Larisa A. Marchenko5Kulakov National Medical Research Center for Obstetrics, Gynecology and PerinatologyKulakov National Medical Research Center for Obstetrics, Gynecology and PerinatologyKulakov National Medical Research Center for Obstetrics, Gynecology and PerinatologyKulakov National Medical Research Center for Obstetrics, Gynecology and PerinatologyKulakov National Medical Research Center for Obstetrics, Gynecology and PerinatologyKulakov National Medical Research Center for Obstetrics, Gynecology and PerinatologyAim. To determine the incidence of premature ovarian failure (POF) and early menopause with regard to reproductive status in carriers of the pathogenic variant of the BRCA1 gene. Materials and methods. According to the inclusion and exclusion criteria, out of 90 carriers of pathogenic variants of the BRCA1 gene, 38 females were included in the study group, and 110 females without these pathogenic variants were included in the control group. The reproductive status, age of menopause onset, history of pelvic surgeries, and palliative care were evaluated in the study groups. Results. The incidence of POF in the group of carriers of pathogenic variants of the BRCA1 gene was significantly higher compared to the control group (p0.004), while the incidence of early menopause showed no significant differences in the studied groups (13.2% vs. 4.5%, respectively; p0,069). No significant differences were found in the analysis of reproductive status. Conclusions. Females with and without pathogenic variants of the BRCA1 gene did not differ significantly by the main indices of reproductive status. Carriers of pathogenic BRCA1 gene variants have a significantly higher incidence of POF vs. controls. Adverse effects of pathogenic BRCA gene variants on women's ovarian reserve and reproductive potential cannot be excluded. Healthy carriers of pathogenic variants of the BRCA1/2 gene are recommended to plan pregnancy in the early reproductive period.https://gynecology.orscience.ru/2079-5831/article/viewFile/100836/pdfbrca1/2dna repair genescandidate genespremature ovarian failureearly menopause |
| spellingShingle | Sandra D. Rshtuni Galina E. Chernukha Andrew E. Donnikov Gyuzyal I. Tabeeva Olga V. Burmenskaya Larisa A. Marchenko Incidence of premature ovarian failure and early menopause in carriers of <i>BRCA1</i> pathogenic variants Гинекология brca1/2 dna repair genes candidate genes premature ovarian failure early menopause |
| title | Incidence of premature ovarian failure and early menopause in carriers of <i>BRCA1</i> pathogenic variants |
| title_full | Incidence of premature ovarian failure and early menopause in carriers of <i>BRCA1</i> pathogenic variants |
| title_fullStr | Incidence of premature ovarian failure and early menopause in carriers of <i>BRCA1</i> pathogenic variants |
| title_full_unstemmed | Incidence of premature ovarian failure and early menopause in carriers of <i>BRCA1</i> pathogenic variants |
| title_short | Incidence of premature ovarian failure and early menopause in carriers of <i>BRCA1</i> pathogenic variants |
| title_sort | incidence of premature ovarian failure and early menopause in carriers of i brca1 i pathogenic variants |
| topic | brca1/2 dna repair genes candidate genes premature ovarian failure early menopause |
| url | https://gynecology.orscience.ru/2079-5831/article/viewFile/100836/pdf |
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