Prevalence of BRCA1 and BRCA2 Germline Mutations in Western Saudi Patients with Epithelial Tubo-Ovarian Carcinoma.

OBJECTIVE

Ovarian cancer represents the most lethal gynecologic malignancy, the epithelial type (EOC) being the most common. BRCA gene mutations are associated with ovarian cancer, younger age at presentation, strong family history of EOC, and multiple malignancies in a single patient. This study calculated the rate of BRCA-positive EOC and compared BRCA-mutated vs non-mutated EOC cases.

METHODS

This retrospective cohort study, conducted at Princess Noura Oncology Center between May 2016 and December 2023, explored outcomes in BRCA-positive EOC patients. The inclusion criteria covered all EOC cases. A total of 70 patients were selected.

RESULTS

Of the 70 patients, 27 (38.6%) exhibited BRCA gene mutations. BRCA-positive patients demonstrated significant associations with familial history of cancer (p < 0.001) and lower diabetes mellitus rates (p = 0.02). However, our findings revealed no significant differences in treatments, prognosis, or outcomes between BRCA-positive and BRCA-negative patients. Subgroup analyses of different BRCA mutation types yielded no significant differences. Intriguingly, we found no significant variations in recurrence rates, comorbid cancers, or therapy duration between BRCA-positive and BRCA-negative cases (p > 0.01). Contrary to previous studies, we identified no differences in prognosis and survival rates between the cohorts.

CONCLUSION

We identified BRCA gene mutations in 38.6% of our patients. Most comparisons revealed no significant differences between BRCA-positive and BRCA-negative patients, highlighting the need for additional studies to determine the prognostic and clinical value of gene testing in EOC.