Prevalence, spectrum, and founder effect of BRCA1 and BRCA2 mutations in epithelial ovarian cancer from the Middle East.
Abdul K SirajRong BuKaleem IqbalNabil SirajWael Al-HaqawiIsmail A Al-BadawiSandeep Kumar ParvathareddyTariq MasoodiAsma TulbahFouad Al-DayelKhawla S Al-KurayaPublished in: Human mutation (2019)
Germline mutations in breast cancer susceptibility gene 1 and 2 have previously been estimated to contribute to 13-18% of all epithelial ovarian cancer (EOC). To characterize the prevalence and effect of BRCA1 and BRCA2 mutations in Middle Eastern EOC patients, BRCA mutation screening was performed in 407 unselected ovarian cancer patients using targeted capture and/or Sanger sequencing. A total of 19 different pathogenic variants (PVs) were identified in 50 (12.3%) women. Nine PVs were recurrent accounting for 80% of cases with PVs (40/50) in the entire cohort. Founder mutation analysis revealed only two mutations (c.4136_4137delCT and c.1140dupG) sharing the same haplotypes thus representing founder mutations in the Middle Eastern population. Identification of the mutation spectrum, prevalence, and founder effect in Middle Eastern population facilitates genetic counseling, risk assessment, and development of a cost-effective screening strategy.
Keyphrases
- breast cancer risk
- risk assessment
- risk factors
- copy number
- south africa
- end stage renal disease
- newly diagnosed
- single cell
- chronic kidney disease
- ejection fraction
- gene expression
- pregnant women
- heavy metals
- social media
- oxidative stress
- dna damage
- drug delivery
- patient reported outcomes
- insulin resistance
- dna repair
- patient reported
- cervical cancer screening