ArticleBMC cancer2020
The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer.
Article in BMC cancer, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
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Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 21 citations in OpenAlex.
- The Relationship Between Climate Change and Breast Cancer and Its Management and Preventative Implications in South Africa.International journal of environmental research and public health · 2025Pooled it
- Hereditary ovarian cancer in women with African ancestry: a scoping review.Familial cancer · 2026Article
- Application of genetic testing criteria for hereditary breast cancer in South Africa.Breast cancer research and treatment · 2025Article
- Contribution of large genomic rearrangements in BRCA1/2 genes and CHEK2 1100delC allele variant to the development of breast/ovarian cancer in Argentinian population.Breast cancer research and treatment · 2025Article
- Breast Cancer Genetic Services in a South African Setting: Proband Testing, Cascading and Clinical Management.Cancer medicine · 2025Article
- Prevalence of Novel and Recurrent Pathogenic Variants inAdvanced biomedical research · 2025Article
- Cancer genetic mutation prevalence in sub-Saharan Africa: A review of existing data.Seminars in oncology · 2023Review
- FGFR2 genetic variants in women with breast cancer.Molecular medicine reports · 2023Article
- Breast Cancer Germline Genetic Counseling and Testing for Populations of African Heritage Globally: A Scoping Review on Research, Practice, and Bioethical Considerations.JCO global oncology · 2023Article
- Comprehensive profiling of pathogenic germline large genomic rearrangements in a pan-cancer analysis.Molecular oncology · 2023Article
- Increased Co-Occurrence of Pathogenic Variants in Hereditary Breast and Ovarian Cancer and Lynch Syndromes: A Consequence of Multigene Panel Genetic Testing?International journal of molecular sciences · 2022Article
- Overview on population screening for carriers with germline BRCA mutation in China.Frontiers in oncology · 2022Review
- Detection of BRCA1/2 pathogenic variants in patients with breast and/or ovarian cancer and their families. Analysis of 3,458 cases from Lower Silesia (Poland) according to the diagnostic algorithm of the National Cancer Control Programme.Frontiers in genetics · 2022Article
- Prevalence of Clinically Relevant GermlineFrontiers in genetics · 2022Article
- Globally RareFrontiers in oncology · 2020Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundPathogenic variants that occur in the familial breast cancer genes (BRCA1/2) lead to truncated ineffective proteins in the majority of cases. These variants are mostly represented by small deletions/insertions, nonsense- and splice-site variants, although some larger pathogenic rearrangements occur. Currently, their contribution to familial breast cancer (BC) and ovarian cancer (OVC) in South Africa (SA) is unknown.
methodsSeven hundred and forty-four patients affected with BC or OVC were screened for larger genomic rearrangements (LGRs) by means of multiplex ligation-dependent probe amplification or Next Generation Sequencing using the Oncomine™ BRCA research assay.
resultsThe patients represented mostly medium to high-risk families, but also included lower risk patients without a family history of the disease, diagnosed at an early age of onset (< 40 years). Eight LGRs were detected (1.1%); seven in BRCA1 with a single whole gene deletion (WGD) detected for BRCA2. These eight LGRs accounted for 8.7% of the 92 BRCA1/2 pathogenic variants identified in the 744 cases. The pathogenic LGRs ranged from WGDs to the duplication of a single exon.
conclusionsLarger rearrangements in BRCA1/2 contributed to the overall mutational burden of familial BC and OVC in SA. Almost a quarter of all pathogenic variants in BRCA1 were LGRs (7/30, 23%). The spectrum observed included two WGDs, one each for BRCA1 and BRCA2.
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