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.

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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
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article

BRCA1 and BRCA2 Gene Mutations in Reproductive-Aged Women With Polycystic Ovarian Syndrome

Shashikant Pujar, Gurushantappa S Kadakol, Neelamma Patil
Cureus
Ovarian function and disorders
article

BRCA1 and BRCA2 Gene Mutations in Reproductive-Aged Women With Polycystic Ovarian Syndrome

Shashikant Pujar, Gurushantappa S Kadakol, Neelamma Patil
article en

Abstract

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.

CureusVol. 17(4)
Shri BM Patil Medical College (IN)
Gender equality
Openalex Percentile: Top 88%
Ovarian function and disorders
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