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

BMC Cancer

Fahad A. Almugbel¹  Hamed Alhusaini¹  Tusneem Elhassan¹  Ayman Omar²  Bader Alshamsan³  Hanan Alharthy⁴  Amgad Shahin Mohamed⁵  Heba Aly Ateya⁵  Naela Agha⁶  Hazem Abdullah Alotaibi⁷  Sharifa Al-Farsi⁸  Hany Salem⁸ 

[1] Medical Oncology, Oncology Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;Medical Oncology, Oncology Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;Department of Clinical Oncology and Nuclear Medicine, Suez Canal University Hospitals, Ismailia, Egypt;Medical Oncology, Oncology Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;Department of Medicine, Qassim Medical College, Qassim University, Qassim, Saudi Arabia;Medical Oncology, Oncology Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;Department of Medicine, University of Maryland School of Medicine, Baltimore, MD, USA;Medical Oncology, Oncology Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;National Cancer Institute, Cairo University, Cairo, Egypt;Medical Oncology, Oncology Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;Northern Ireland Cancer Centre, Belfast City Hospital- Belfast- the UK, 66 Finaghy Road South, BT10 0DE, Belfast, UK;Medical Oncology, Oncology Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;Oncology center, Prince Mohmmad Medical City, Riyadh, Saudi Arabia;Surgical Oncology, Oncology Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia;

关键词: Ovarian Cancer;    BRCA1;    BRCA2;    Germline;    BRCA mutation;    Founder mutation;   

DOI  :  10.1186/s12885-021-09123-6

来源: Springer

【 摘 要 】

PurposeBRCA 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.MethodsThis 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).ResultSixty-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.ConclusionThe 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 registrationTrial 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.

【 授权许可】

CC BY