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BRCA gene mutations (BRCAm) have an impact on patients’ characteristics and clinical outcomes of ovarian cancer (OC). The frequency and patterns of BRCAm vary among countries and ethnicities. There are limited data from Saudi Arabia (SA); thus, this study aims to determine the frequency, pattern, and impact on patient characteristics and outcomes of BRCAm OC compared to wild-type BRCA (BRCAw) in Saudi women. | Agha et al. BMC Cancer 2022 22 18 https doi.org 10.1186 s12885-021-09123-6 RESEARCH ARTICLE Open Access Assessing frequency and clinical outcomes of BRCA mutated ovarian cancer in Saudi women Naela Agha1 2 Bader Alshamsan1 3 Sharifa Al Farsi4 Heba Aly Ateya1 5 Fahad A. Almugbel1 Hazem Abdullah Alotaibi1 6 Ayman Omar1 7 Amgad Shahin Mohamed1 5 Hanan Alharthy1 8 Tusneem Elhassan1 Hany Salem4 and Hamed Alhusaini1 Abstract Purpose BRCA gene mutations BRCAm have an impact on patients characteristics and clinical outcomes of ovarian cancer OC . The frequency and patterns of BRCAm vary among countries and ethnicities. There are limited data from Saudi Arabia SA thus this study aims to determine the frequency pattern and impact on patient characteristics and outcomes of BRCAm OC compared to wild-type BRCA BRCAw in Saudi women. Methods This retrospective study evaluated women diagnosed with non-mucinous OC fallopian tube or peritoneal carcinoma who had BRCA status tested in an accredited lab between January 2016 and December 2017. The associa tions between various parameters and BRCAm were estimated using logistic regression. Statistical analysis performed with SPSS Version 27 . Result Sixty-one women with a median age of 52 at diagnosis were analyzed. Germline BRCA mutations were found in 41 of cases 25 61 . The most common deleterious germline BRCA1 mutation was c.1140dupG 39 . Most women 72 had no family history of cancers and 82 had advanced stage. Regardless of BRCA mutations an opti mal overall response rate ORR to first-line treatment has been achieved although most cases relapsed 84 and the majority were platinum-sensitive relapse 85 . Higher ORR to subsequent lines and better survival were obtained in women with BRCA -mutation. Conclusion The prevalence of BRCAm of OC was higher in Saudi women compared to regional and most of the international figures. The better clinical outcomes of BRCAm women agreed with the reported evidence. Further stud ies on BRCA mutations
