BRCA1 pathogenic variants in women with premature ovarian failure
- Authors: Rshtuni S.D.1, Chernukha G.E.1, Bystritskiy A.A.1, Tabeeva G.I.1, Krasheninnikova R.V.1, Marchenko L.A.1
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Affiliations:
- Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
- Issue: No 10 (2022)
- Pages: 76-82
- Section: Articles
- URL: https://journals.eco-vector.com/0300-9092/article/view/249533
- DOI: https://doi.org/10.18565/aig.2022.10.76-82
- ID: 249533
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Abstract
The role of BRCA1 pathogenic variants in the genesis and development of premature ovarian aging has been discussed in the literature in recent years. Objective: To identify the proportion of female carriers of BRCA1 pathogenic variants among patients with premature ovarian failure (POF). Materials and methods: This was an observational longitudinal study which included 142 women with POF who underwent BRCA testing. The patients were aged from 18 to 39 years (median age is 35 years (Q1-Q3 29-38). The control group consisted of150 women with timely menopause (median age is 54 years (Q1-Q3 46-71); they underwent BRCA testing optionally. Results: During the study we identified two cases of the most frequent BRCA1 pathogenic variants (loci 3819del GTAAA and 5382insC) which constitute 1.4% (95% CI: 0.4-5.0%) in POF pathology. Conclusion: BRCA1 pathogenic variants are associated not only with an increased risk of oncopathology, but also with a diminished ovarian reserve; therefore, the principles of cancer prevention in patients with POF should be revised. In case of diminished ovarian reserve, it is necessary to carry out not only primary standard cancer screening, but one should also carefully take a family history of cancer with the subsequent administration of BRCA genetic testing.
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About the authors
Sandra D. Rshtuni
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: rshtunisandra@gmail.com
postgraduate student, Department of Endocrinological Gynecology
Galina E. Chernukha
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: g_chemukha@oparina4.ru
Dr. Med. Sci., Professor, Department of Endocrinological Gynecology
Andrey A. Bystritskiy
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: a_bystritskiy@opanna4.ru
Leading researcher at the Laboratory of Molecular Genetic Methods, Institute of Reproductive Genetics
Gyuzyal I. Tabeeva
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: doctor.gtab@gmail.com
Senior Researcher at the Department of Gynecological Endocrinology
Regina V. Krasheninnikova
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: krv82@yandex.ru
molecilar genetic lab pathologist
Larisa A. Marchenko
Academician V.I. Kulakov National Medical Research Centre for Obstetrics, Gynecology and Perinatology, Ministry of Health of Russia
Email: l_marchenko@yandex.ru
Dr. Med. Sci., Professor, Department of Endocrinological Gynecology
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