ArticleInternational journal of cancer2016
Identification of novel BRCA founder mutations in Middle Eastern breast cancer patients using capture and Sanger sequencing analysis.
Article in International journal of cancer, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers, 4 of them syntheses that pooled it.
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Who cites it
43 citing papers in PubMed, 4 syntheses or guidelines pooled it.
- Global prevalence and ethnic variation of pathogenic BRCA1/2 variants in breast cancer: a systematic review and meta-analysis.Journal of translational medicine · 2026Pooled it
- Prevalence of specific and recurrent/founder pathogenic variants in BRCA genes in breast and ovarian cancer in North Africa.BMC cancer · 2022Pooled it
- Pooled it
- Prevalence of BRCA mutations among hereditary breast and/or ovarian cancer patients in Arab countries: systematic review and meta-analysis.BMC cancer · 2019Pooled it
- Whole exome sequencing reveals rare DNA repair gene variants in BRCA1/2-negative Arab early-onset breast cancer patients.Scientific reports · 2026Article
- Article
- Identification of BRCA1 and BRCA2 Germline Mutations in Female Breast Cancer Patients Using Next Generation Sequencing.Asian Pacific journal of cancer prevention : APJCP · 2026Article
- Genetic characterization of BRCA1 and BRCA2 variants in cancer and high-risk family screening cohorts in the UAE population.Journal of cancer research and clinical oncology · 2025Article
- Molecular subtyping and target identification in triple negative breast cancer through immunohistochemistry biomarkers.BMC cancer · 2025Article
- BRCA1/2 mutations and outcomes among Middle Eastern patients with early-onset breast cancer in Oman.The oncologist · 2024Article
- Founder mutations and rare disease in the Arab world.Disease models & mechanisms · 2024Review
- Radioactive iodine refractoriness in Middle Eastern differentiated thyroid cancer: clinical outcome and risk factor analysis.Frontiers in endocrinology · 2024Article
- Cancer Biomarkers and Precision Oncology: A Review of Recent Trends and Innovations.Clinical Medicine Insights. Oncology · 2024Review
- Cancer Incidence and Mortality Estimates in Arab Countries in 2018: A GLOBOCAN Data Analysis.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2023Article
- Identification and characterization of ATM founder mutation in BRCA-negative breast cancer patients of Arab ethnicity.Scientific reports · 2023Article
- Investigation of germline variants in Bahraini women with breast cancer using next-generation sequencing based-multigene panel.PloS one · 2023Article
- Predictive risk factors for distant metastasis in pediatric differentiated thyroid cancer from Saudi Arabia.Frontiers in endocrinology · 2023Article
- Using species richness calculations to model the global profile of unsampled pathogenic variants: Examples from BRCA1 and BRCA2.PloS one · 2023Article
- Article
- Lynch Syndrome Identification in Saudi Cohort of Endometrial Cancer Patients Screened by Universal Approach.International journal of molecular sciences · 2022Article
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Authors and funding
9 authors.
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No grant is acknowledged in the PubMed record.
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 Middle Eastern population is not fully explored. To characterize the prevalence of BRCA mutations in Middle Eastern breast cancer patients, BRCA mutation screening was performed in 818 unselected breast cancer patients using Capture and/or Sanger sequencing. 19 short tandem repeat (STR) markers were used for founder mutation analysis. In our study, nine different types of deleterious mutation were identified in 28 (3.4%) cases, 25 (89.3%) cases in BRCA 1 and 3 (10.7%) cases in BRCA 2. Seven recurrent mutations identified accounted for 92.9% (26/28) of all the mutant cases. Haplotype analysis was performed to confirm c.1140 dupG and c.4136_4137delCT mutations as novel putative founder mutation, accounting for 46.4% (13/28) of all BRCA mutant cases and 1.6% (13/818) of all the breast cancer cases, respectively. Moreover, BRCA 1 mutation was significantly associated with BRCA 1 protein expression loss (p = 0.0005). Our finding revealed that a substantial number of BRCA mutations were identified in clinically high risk breast cancer from Middle East region. Identification of the mutation spectrum, prevalence and founder effect in Middle Eastern population facilitates genetic counseling, risk assessment and development of cost-effective screening strategy.
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