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Genetics and Epidemiology
IGCS19-0519
225 Prevalence, spectrum and founder effect of BRCA1 and BRCA2 mutations in epithelial ovarian cancer from middle east
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  1. AK Siraj1,
  2. R Bu1,
  3. I Kaleem1,
  4. N Siraj2,
  5. W Al-Haqawi2,
  6. I Al-Badawi3,
  7. P Sandeep Kumar2,
  8. TA Masoodi2,
  9. A Tulbah4,
  10. F Al-Dayel5 and
  11. KS Al-Kuraya2
  1. 1King Faisal Specialist Hospital and Research Centre, Center for Human Cancer Genomic Research HCGR, Riyadh, Saudi Arabia
  2. 2King Faisal Specialist Hospital and Research Centre, Human Cancer Genomic Research- Research Center-, Riyadh, Saudi Arabia
  3. 3King Faisal Specialist Hospital and Research Center, Obstetrics and Gynecology, Riyadh, Saudi Arabia
  4. 4King Faisal Specialist Hospital and Research Center, Department of Pathology and Laboratory Medicine, Riyadh, Saudi Arabia
  5. 5King Faisal Specialist Hospital and Research Center, Department of Pathology-, Riyadh, Saudi Arabia

Abstract

Objectives To characterize the prevalence and effect of BRCA1 and BRCA2 mutations in Middle Eastern EOC patients.

Methods BRCA mutation screening was performed in 407 unselected ovarian cancer patients using targeted capture and/or Sanger sequencing.

Results 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_4137 delCT and c.1140 dupG) sharing the same haplotypes thus representing founder mutations in the Middle Eastern population.

Conclusions 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.

https://doi.org/10.1136/ijgc-2019-IGCS.225

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