ArticleBMC cancer2015
BRCA1, BRCA2 and PALB2 mutations and CHEK2 c.1100delC in different South African ethnic groups diagnosed with premenopausal and/or triple negative breast cancer.
Article in BMC cancer, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers, 2 of them syntheses that pooled it.
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Who cites it
27 citing papers in PubMed, 2 syntheses or guidelines pooled it, 55 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
- 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
- FGFR2 genetic variants in women with breast cancer.Molecular medicine reports · 2023Article
- Cancer genetic mutation prevalence in sub-Saharan Africa: A review of existing data.Seminars in oncology · 2023Review
- 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
- BRCA1 gene polymorphism and finger dermatoglyphic patterns in Ghanaian breast cancer patients: a quantitative cross-sectional approach.The Pan African medical journal · 2022Article
- Prevalence of Clinically Relevant GermlineFrontiers in genetics · 2022Article
- Implementation of multigene panel testing for breast and ovarian cancer in South Africa: A step towards excellence in oncology for the public sector.Frontiers in oncology · 2022Article
- Genetic Susceptibility to Breast Cancer in Sub-Saharan African Populations.JCO global oncology · 2021Article
- Mediation analysis of racial disparities in triple-negative breast cancer incidence among postmenopausal women.Breast cancer research and treatment · 2021Article
- PioneeringFrontiers in oncology · 2021Article
- Screening of germline mutations in young Rwandan patients with breast cancers.Molecular genetics & genomic medicine · 2020Article
- The contribution of large genomic rearrangements in BRCA1 and BRCA2 to South African familial breast cancer.BMC cancer · 2020Article
- A Review of Cancer Genetics and Genomics Studies in Africa.Frontiers in oncology · 2020Review
- Breast cancer in low-middle income countries: abnormality in splicing and lack of targeted treatment options.American journal of cancer research · 2020Review
- Artificial intelligence (AI) and big data in cancer and precision oncology.Computational and structural biotechnology journal · 2020Review
- Globally RareFrontiers in oncology · 2020Article
- BRCA1 and BRCA2 pathogenic sequence variants in women of African origin or ancestry.Human mutation · 2019Article
- Novel BRCA2 pathogenic variant c.5219 T > G; p.(Leu1740Ter) in a consanguineous Senegalese family with hereditary breast cancer.BMC medical genetics · 2019Article
- The first two confirmed sub-Saharan African families with germline TP53 mutations causing Li-Fraumeni syndrome.Familial cancer · 2018Article
Corrections and comments
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Authors and funding
17 authors at 8 institutions in 2 countries.
Funding
Abstract
backgroundCurrent knowledge of the aetiology of hereditary breast cancer in the four main South African population groups (black, coloured, Indian and white) is limited. Risk assessments in the black, coloured and Indian population groups are challenging because of restricted information regarding the underlying genetic contributions to inherited breast cancer in these populations. We focused this study on premenopausal patients (diagnosed with breast cancer before the age of 50; n = 78) and triple negative breast cancer (TNBC) patients (n = 30) from the four South African ethnic groups. The aim of this study was to determine the frequency and spectrum of germline mutations in BRCA1, BRCA2 and PALB2 and to evaluate the presence of the CHEK2 c.1100delC allele in these patients.
methodsIn total, 108 South African breast cancer patients underwent mutation screening using a Next-Generation Sequencing (NGS) approach in combination with Multiplex Ligation-dependent Probe Amplification (MLPA) to detect large rearrangements in BRCA1 and BRCA2.
resultsIn 13 (12 %) patients a deleterious mutation in BRCA1/2 was detected, three of which were novel mutations in black patients. None of the study participants was found to have an unequivocal pathogenic mutation in PALB2. Two (white) patients tested positive for the CHEK2 c.1100delC mutation, however, one of these also carried a deleterious BRCA2 mutation. Additionally, six variants of unknown clinical significance were identified (4 in BRCA2, 2 in PALB2), all in black patients. Within the group of TNBC patients, a higher mutation frequency was obtained (23.3 %; 7/30) than in the group of patients diagnosed before the age of 50 (7.7 %; 6/78).
conclusionThis study highlights the importance of evaluating germline mutations in major breast cancer genes in all of the South African population groups. This NGS study shows that mutation analysis is warranted in South African patients with triple negative and/or in premenopausal breast cancer.
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