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

Polycystic ovarian syndrome (PCOS) is a heterogeneous condition influenced by genetic, environmental, and lifestyle factors. The aim of this study was to evaluate the relationship between BRCA1 and BRCA2 gene mutations with PCOS and to determine the sociodemographic and clinical risk factors.

This study seeks to analyze mutations in the BRCA1 and BRCA2 genes among women with PCOS in the Vijayapura region.

In total, there were 96 individuals included (49 PCOS individuals and 47 healthy controls). Blood samples were collected for genetic analysis, and the anthropometry parameters, menstrual irregularities, and ultrasound findings were recorded. Genomic DNA was extracted to undergo polymerase chain reaction (PCR) followed by automated sequencing. Statistical analysis was performed using IBM SPSS Statistics for Windows, Version 20.0 (Released 2011; IBM Corp., Armonk, New York, United States), with a significance level set at p<0.05.

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.