BRCA1 and BRCA2 Gene Mutations in Reproductive-Aged Women With Polycystic Ovarian Syndrome
Outcomes presented an association between rural residency, educational status, and consanguineous marriage, as well as homemaker and PCOS (p=0.001 for all). Abnormal menstruation and dysmenorrhea (p=0.001) occurred frequently (69.4%) in women with PCOS (89.8% had acne). BRCA1 mutations exhibited a significant association with PCOS (p=0.045), where 8.2% of cases expressed the rs1555600862 (C>G variant, a likely benign missense mutation). Conclusion: PCOS women often have a hormonal imbalance and ovarian dysfunction. Detecting BRCA gene mutations in women with PCOS is very crucial because these mutations are linked to higher risks of breast and ovarian cancers. Early detection of the BRCA gene mutation status can provide clear, valuable insight in terms of the prevention of complications and treatment options.
Authors
- Shashikant Pujar (ORCID: https://orcid.org/0000-0001-7132-5513)
- Gurushantappa S Kadakol
- Neelamma Patil (ORCID: https://orcid.org/0000-0002-9108-2157)
Institutions
- Shri BM Patil Medical College (IN)
Publication Details
- Journal
- Cureus
- Published
- 2025-04-18
- DOI
- https://doi.org/10.7759/cureus.82496
- Primary Topic
- Ovarian function and disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.00