Abstract 2550: Identification of novel BRCA founder mutations in middle eastern breast cancer patients using capture and sanger sequencing analysis

Abstract Ethnic differences of breast cancer genomics have prompted us to investigate the spectra of BRCA1 and BRCA2 mutations in different populations. The prevalence and effect of BRCA 1 and BRCA 2 mutations in Saudi population is not fully explored. We conducted this study to characterize the pre...

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Published in:Cancer research (Chicago, Ill.) Ill.), 2016-07, Vol.76 (14_Supplement), p.2550-2550
Main Authors: Bu, Rong, Siraj, Abdul K., Al-Obaisi, Khadija A. S., Beg, Shaham, Al Hazmi, Mohsen, Kong, Yan, Ajarim, Dahish, Al-Dayel, Fouad, Al-Kuraya, Khawla S.
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Language:English
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Summary:Abstract Ethnic differences of breast cancer genomics have prompted us to investigate the spectra of BRCA1 and BRCA2 mutations in different populations. The prevalence and effect of BRCA 1 and BRCA 2 mutations in Saudi population is not fully explored. We conducted this study to characterize the prevalence of BRCA mutations in Middle Eastern breast cancer patients from Saudi Arabia. A total of 486 clinically high risk breast cancer patients were recruited from the King Faisal Specialist Hospital & Research Centre from 1990 and 2011. Comprehensive BRCA1 and BRCA2 mutation screening was performed using capture sequencing and/or Sanger Sequencing of all coding exons of BRCA1 and BRCA2 in 190 cases. Thereafter, the validation was done using a panel of detected mutations in an additional 296 high risk breast cancer cases. Among the total 486 cases analyzed, 9 deleterious BRCA mutations were identified in 28 (5.8%) cases, comprising 25 cases in BRCA 1 and three cases in BRCA 2. The six BRCA 1 recurrent mutations (c. 1140dupG, c.4065_4068delTCAA, c.4136_4137delCT, c.4524G>A, c.5251C>T and c.5530delC) accounted for 96% (24/25) of all BRCA 1 mutant cases in this cohort. The one recurrent BRCA 2 mutation (c.7007G>A) accounted for 66.6% (2/3) of all BRCA2 mutant cases. Haplotype analysis was performed to confirm two BRCA1 recurrent mutations are novel putative founder mutation. In this study our findings suggest that BRCA mutations account for substantial proportion of high risk breast cancer cases in Middle Eastern population. Knowing the spectrum and frequency of founder mutation in this population will help in developing cost-effective rapid screening assay which can facilitate genetic testing and counseling for breast cancer risk assessment. Citation Format: Rong Bu, Abdul K. Siraj, Khadija A. S. Al-Obaisi, Shaham Beg, Mohsen Al Hazmi, Yan Kong, Dahish Ajarim, Fouad Al-Dayel, Khawla S. Al-Kuraya. Identification of novel BRCA founder mutations in middle eastern breast cancer patients using capture and sanger sequencing analysis. [abstract]. In: Proceedings of the 107th Annual Meeting of the American Association for Cancer Research; 2016 Apr 16-20; New Orleans, LA. Philadelphia (PA): AACR; Cancer Res 2016;76(14 Suppl):Abstract nr 2550.
ISSN:0008-5472
1538-7445
DOI:10.1158/1538-7445.AM2016-2550