REVIEW   

Minerva Obstetrics and Gynecology 2022 April;74(2):165-70

DOI: 10.23736/S2724-606X.21.04813-2

Copyright © 2021 EDIZIONI MINERVA MEDICA

language: English

BRCA 1, 2 mutation and earlier menopause: could BRCA 1,2 be used as predictor of menopause?

Konstantinos NIKOLETTOS ¹ ✉, Christos DAMASKOS ^{2, 3}, Nikolaos GARMPIS ^{3, 4}, Nikos NIKOLETTOS ⁵

¹ Obstetric and Gynecologic Clinic, Thriasio General Hospital, Elefsina, Greece; ² Unit of Renal Transplantation, Laiko General Hospital, Athens, Greece; ³ School of Medicine, N.S. Christeas Laboratory of Experimental Surgery and Surgical Research, National and Kapodistrian University of Athens, Athens, Greece; ⁴ School of Medine, Second Department of Propedeutic Surgery, Laiko General Hospital, National and Kapodistrian University of Athens, Athens, Greece; ⁵ School of Medine, Obstetric and Gynecologic Clinic, Democritus University of Thrace, Alexandroupolis, Greece

INTRODUCTION: Many studies have shown that BRCA mutation is not only related to cancer but also to ovarian aging. Studies in both human and mice oocytes have shown that Double-strand breaks (DSBs) accumulate with age.
EVIDENCE ACQUISITION: A review of the literature was completed through the PubMed database aiming to find articles regarding BRCA 1,2 mutation and if they are related to early menopause in order to use them as predictive biomarkers in the near future. The research used keywords in numerous combinations, such as “BRCA 1,2 mutation,” “menopause,” “ovarian reserves,” “AMH,” “genome-wide association studies,” and “biomarkers.” The literature was limited in this specific topic. The initial research found 16 screened articles, 7 of which were not included because there were not relevant, as far as publications in non-English language.
EVIDENCE SYNTHESIS: Genome-wide association studies (GWAS) have found 44 genetic loci that are related to variations when a female is about to have menopause. BRCA1 is involved in these 44 loci that are associated with the age of menopause. This review has gathered all results of literature search about the association between BRCA genes and early menopause. Most of the articles found that women with BRCA mutation have earlier menopause compared to non-carriers.
CONCLUSIONS: In conclusion, in the near future BRCA1,2 genes could be used as predictive biomarkers of menopause.

KEY WORDS: Genes, BRCA1; Genes, BRCA2; Menopause; Genetic markers; Biomarkers