Clinical Pathological Feature Analysis and Prognostic Value Exploration of BRCA1/2 Exon11 MutationExon 11 Mutations in Patients with Gynecological Malignancies

Objective To clarify the associations of BRCA1/2 mutations (especially Exon11) with clinicopathological features and prognosis in patients with gynecological malignancies and to provide references for clinical risk stratification and individualized management. Methods A retrospective analysis of 258 gynecological malignancy patients (2016–2024) with next-generation sequencing data was performed, including 67 BRCA1/2 mutation-positive cases, was performed. Yates-corrected chi-square test, Kaplan-Meiertests, Kaplan‒Meier survival analysisanalyses, and Cox proportional hazards modelmodels were used for correlation and prognostic factor screening. Results The total BRCA1/2 mutation rate was 25.97%, which was highest in double primary tumors (100%, 13/13), followed by ovarian cancer (34.57%, 28/81), and lowest in breast cancer (16.43%, 23/140). Exon11Exon 11 was the primary mutation hotspot, accounting for 55.0% (22/40) of the BRCA1 mutations and 56.7% (17/30) of the BRCA2 mutations. Exon11 mutations correlated with advanced stage (62.2% III/IV, p = 0.048) and lymph node metastasis (64.1%, p = 0.038) but not with age or T/M stage (p > 0.05). Survival analysis revealed significantly shorter median OS (57.9 vs. not reached months) and EFS (36.8 vs. 96.6 months) in the Exon11 mutation group (p = 0.0186 and p = 0.0108, respectively). Multivariate Cox regression confirmed that Exon11 mutation was an independent poor prognostic factor (HR = 6.14, 95% CI: 1.04–13.53, p = 0.02). Conclusion BRCA1/2 Exon11exon 11 mutations are frequent in gynecological malignancies and are associated with tumor progression (advanced stage, lymph node metastasis) and poor prognosis; thus, these mutations may serve as potential prognostic biomarkers.