scholarly journals Assessing frequency and clinical outcomes of BRCA mutated ovarian cancer in Saudi women

BMC Cancer ◽  
2022 ◽  
Vol 22 (1) ◽  
Author(s):  
Naela Agha ◽  
Bader Alshamsan ◽  
Sharifa Al-Farsi ◽  
Heba Aly Ateya ◽  
Fahad A. Almugbel ◽  
...  

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 associations 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 optimal 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 studies on BRCA mutations of OC and genetic counseling are highly recommended. Trial registration Trial approved by the Institutional Review Board of King Faisal Specialist Hospital and Research Center (RAC # 2171137) and conducted at King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11,211, Saudi Arabia.

2021 ◽  
Author(s):  
Naela Agha ◽  
Bader Alshamsan ◽  
Sharifa Al-Farsi ◽  
Heba Aly Ateya ◽  
Fahed A Almugbel ◽  
...  

Abstract Purpose: BRCA gene mutations (BRCAm) had 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 associations 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 optimal 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 studies on BRCA mutations of OC and genetic counseling are highly recommended.Trial registration number and The addresses of the institution at which the work was performed:Trial approved by the Institutional Review Board of King Faisal Specialist Hospital and Research Center (RAC # 2171137) and conducted at King Faisal Specialist Hospital and Research Center, PO Box 3354, Riyadh 11211, Saudi Arabia.


2020 ◽  
Author(s):  
Naela Agha ◽  
Bader Alshamsan ◽  
Sharifa Al-Farsi ◽  
Heba Aly Ateya ◽  
Fahed A Almugbel ◽  
...  

Abstract Background: BRCA gene mutations (BRCAm) had 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.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 associations between various parameters and BRCAm were estimated using logistic regression. The objective response rate (ORR) of the first line and subsequent lines for BRCAm and BRCAw were evaluated using Response Evaluation Criteria in Solid Tumors Version 1. The disease-free survival (DFS) and overall survival (OS) were estimated by Kaplan–Meier methods and compared by log-rank tests.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 majority were BRCA 1 (92%), and the most common deleterious germline BRCA1 mutation was c.1140dupG (39%), followed by c.5530del (13%) and c.5095C>T (8%). Most women (72%) had no family history of cancers, all had high-grade serous carcinoma, and 82% had advanced stage at presentation. Regardless of BRCA mutations, an optimal ORR to first-line treatment has been achieved although most cases relapsed after the first line of management (84%) and the majority were platinum-sensitive relapse (85%). The ORR was higher in BRCAm in subsequent lines compared to BRCAw type. BRCAm women experienced longer median DFS (25 vs 17 months, p = 0.02) and a higher five-year OS rate (90.9% vs 66.7%, p = 0.19) than BRCAw.Conclusion: The prevalence of BRCAm of OC was higher in Saudi women when compared with the regional and most of the international figures. The better clinical outcomes of BRCAm women is in concordance with the reported evidence. Further studies on BRCA mutations of OC, education, genetic counseling, and free access to genetic testing are highly recommended.


2018 ◽  
Vol 20 (3) ◽  
pp. 19-25
Author(s):  
E V Artamonova ◽  
E I Kovalenko ◽  
A V Snegovoy ◽  
A A Aksarin ◽  
T A Anciferova ◽  
...  

Background and aims. There is no data on olaparib efficacy and safety in Russian routine clinical practice. Methods. We analysed the 30 consecutive patients who received maintenance olaparib treatment for platinum-sensitive relapse (PSR) of ovarian or fallopian tube cancer in Russian Cancer Centers. Patients were prescribed olaparib capsules 400 mg twice daily. Radiographic assessments were done every 8 weeks. Patient characteristics. Age median 55 (range 39-68); 26 (86,6%) patients had gBRCA1, 2 (6,6%) patients had sBRCA1, 2 (6,6%) patients had gBRCA2. Number of relapse: median 1 (range 1-10), number of lines of chemotherapy: median 2 (range 2-11). Last regimen of chemotherapy: taxane + platinum (± bevacizumab) 90% (27/30), platinum monotherapy 10% (3/30). Best response to the last chemotherapy complete response 43,3% (13/30), partial response 36,7% (11/30), stable disease 20% (6/30). Results. Median follow-up in 13 CR patients was 12 mos. 1 CR patient progressed after 9 mos of maintenance olaparib. Median follow-up in 11 PR patients was 7 mos. 3 PR patients achieved CR on olaparib. 1 PR patient progressed after 6 mos of olaparib maintenance. Median follow-up in SD patients was 12 mos. 1 SD patient achieved PR on olaparib, there were no progressions. 10 (30%) patients had adverse events (AEs). 1 patient had grade 3 AE and 2 patients had AEs leading to dose reduction. There were no grade 4 AEs. Conclusions. Olaparib is safe and effective maintenance treatment of PSR ovarian cancer in routine clinical settings.


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