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Prevalence of BRCA1 and BRCA2 pathogenic sequence variants in ovarian cancer patients in the Gulf region: The PREDICT study

Patients with pathogenic sequence variants (PSVs) in BRCA1/BRCA2 are at high risk of developing ovarian cancer (OC). However, genetic testing for BRCA1/BRCA2 PSVs is still not a routine practice in the Middle East. With the lack of epidemiological studies in the region, we aim to describe the prevalence of BRCA1/BRCA2 PSVs in patients with OC across diferent countries in the Gulf region. | Azribi et al. BMC Cancer 2021 21 1350 https doi.org 10.1186 s12885-021-09094-8 RESEARCH Open Access Prevalence of BRCA1 and BRCA2 pathogenic sequence variants in ovarian cancer patients in the Gulf region the PREDICT study Fathi Azribi1 Ehab Abdou2 Emad Dawoud1 Mohamed Ashour2 Amgad Kamal3 Mohamed Al Sayed3 and Ikram Burney4 Abstract Background Patients with pathogenic sequence variants PSVs in BRCA1 BRCA2 are at high risk of developing ovar- ian cancer OC . However genetic testing for BRCA1 BRCA2 PSVs is still not a routine practice in the Middle East. With the lack of epidemiological studies in the region we aim to describe the prevalence of BRCA1 BRCA2 PSVs in patients with OC across different countries in the Gulf region. Methods The PREDICT study was an observational prospective epidemiological study which consecutively recruited women with ovarian primary peritoneal and fallopian tube cancers from the following Gulf countries over the period from July 2017 to July 2019 United Arab Emirates UAE Kuwait and Oman. The study was approved by the local ethics committee of participating centers. The BRCA1 BRCA2 PSVs were assessed by tissue genetic testing using next-generation sequencing NGS . Results A total of 105 women were included with a median age at diagnosis of 52 years IQR 44.5 61.0 . Nearly 11.4 of patients reported a family history of ovarian or breast cancer while 4.7 of patients reported a family history of other cancers. Most of the patients 70.3 had advanced disease FIGO stage III IV at presentation. Eighty-eight patients 84 were successfully tested for somatic BRCA1 BRCA2 PSVs. Fifteen patients 17 were found to have PSVs in either BRCA1 BRCA2 or both genes of them 10 patients 11.2 had BRCA1 somatic PSVs alone eight patients 9.1 had BRCA2 somatic PSVs while three patients 2.9 had both PSVs. Five patients with BRCA1 BRCA2 somatic PSVs had germline PSVs tests and three of them tested positive. Concerning treatment 87.6 of patients received perioperative