Observational studyJournal of global oncology2018
Prevalence of BRCA1 and BRCA2 Mutations Among High-Risk Saudi Patients With Breast Cancer.
Observational study in Journal of global oncology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 1 of them a synthesis that pooled it.
What it found
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Who cites it
27 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- 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
- Analysing Breast Cancer Screening Trends in Rural Saudi Arabia: Vision 2030 Context.Asian Pacific journal of cancer prevention : APJCP · 2026Article
- Identifying a Recurrent BRCA1 Variant in the Qatari Population With Unique Genotype-Phenotype Correlations.Molecular genetics & genomic medicine · 2026Article
- Genomic and epigenomic diversity of breast cancer across Western and MENA populations: implications for precision oncology.Frontiers in oncology · 2026Review
- Somatic Mutation Profiling and Therapeutic Landscape of Breast Cancer in the MENA Region.Cells · 2025Article
- Mutational spectrum of BRCA genes in Egyptian patients with breast cancer.Scientific reports · 2025Article
- Pan-Cancer Exome-wide analysis of germline mutational patterns and pathways.Scientific reports · 2025Article
- A comprehensive epidemiological analysis of breast cancer in the Eastern Province of Saudi Arabia.Scientific reports · 2025Article
- Mutational spectrum and profile of breast and ovarian cancer patients in Saudi Arabia's western region: single center experience.Discover oncology · 2025Article
- Assessment of knowledge and awareness about ovarian cancer and its risk factors among women in Jazan, Saudi Arabia: a cross-sectional study.Saudi pharmaceutical journal : SPJ : the official publication of the Saudi Pharmaceutical Society · 2025Article
- A comprehensive framework for the management of hereditary breast cancers: guiding light in precision medicine.Oncology reviews · 2025Review
- Analysis of BRCA1 germline variants (exons 5, 11 and 20) in breast cancer families from Libya.The Libyan journal of medicine · 2024Article
- Germline pathogenic variants among high hereditary risk patients with breast and ovarian cancer and unaffected subjects in Lebanese Arab women.World journal of clinical oncology · 2024Article
- BRCA1/2 mutations and outcomes among Middle Eastern patients with early-onset breast cancer in Oman.The oncologist · 2024Article
- Tracking the epidemiological trends of female breast cancer in Saudi Arabia since 1990 and forecasting future statistics using global burden of disease data, time-series analysis.BMC public health · 2024Article
- Variation Analysis in Premenopausal and Postmenopausal Breast Cancer Cases.Journal of personalized medicine · 2024Article
- BRCA1 and BRCA2 germline mutations in Chinese Hakka breast cancer patients.BMC medical genomics · 2024Article
- BRCA testing and management of BRCA-mutated early-stage breast cancer: a comprehensive statement by expert group from GCC region.Frontiers in oncology · 2024Review
- Role of EGFR and FASN in breast cancer progression.Journal of cell communication and signaling · 2023Review
- Mutational spectrum of BRCA1/2 genes in Moroccan patients with hereditary breast and/or ovarian cancer, and review of BRCA mutations in the MENA region.Breast cancer research and treatment · 2022Article
Corrections and comments
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Authors and funding
10 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Purpose Over the past three decades, the incidence rate of breast cancer (BC) among Arab women has continually increased. However, data on the prevalence of BRCA1/2 mutations are scarce. Although the population in Saudi Arabia is at large homogeneous and consanguinity is common, especially in the central, eastern, and southern regions of the country, the prevalence of BRCA1 and BRCA2 mutations and the characteristics of BC are not well studied in the country. Methods This prospective observational study intended to determine the prevalence of BRCA1 and BRCA2 mutations and sought to examine the clinicopathologic features of BC associated with these mutations. Results Of 310 patients, 270 (87%) had no mutation. BRCA mutations were identified in 40 patients; BRCA1 mutations were found in 11% of patients, and BRCA2 mutations were found in 2% of patients. Variants of unknown significance were found in 15% of patients (45 patients). Triple-negative BC (TNBC) accounted for 86% of all patients with BC and mutations. The following three recurrent deleterious founder BRCA1 mutations were observed: c.4136_4137delCT was observed in five unrelated patients, c.5530delC was observed in three unrelated patients, and c.4524G>A mutations were observed in five unrelated patients. One novel mutation was identified in the BRCA1 gene (c.5512 dup [p.Glu1838Glyfs*42]). Conclusion Among high-risk Saudi patients with BC, BRCA1 mutations are prevalent (11%). TNBC is the most common BC subtype. Furthermore, age alone does not have a significant association with mutation, but a combination of risk factors such as age, familial history, and TNBC has a significant association with BRCA mutation.
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