ArticleBreast cancer research and treatment2022
Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews.
Article in Breast cancer research and treatment, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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7 citing papers in PubMed, 6 citations in OpenAlex.
- Efficacy and toxicity of neoadjuvant chemotherapy versus chemo-immunotherapy in triple-negative breast cancer patients with and without germline BRCA mutations.Breast cancer research and treatment · 2026Article
- Identification and Computational Analysis ofMedical sciences (Basel, Switzerland) · 2025Article
- The genetic landscape of Lynch syndrome in the Israeli population.Familial cancer · 2024Article
- Article
- Cancer genetic mutation prevalence in sub-Saharan Africa: A review of existing data.Seminars in oncology · 2023Review
- Determination of genetic predisposition to early breast cancer in women of Kazakh ethnicity.Oncotarget · 2023Article
- Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.Molecular vision · 2023Article
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Authors and funding
18 authors at 9 institutions in 1 country.
Funding
Abstract
purposeBRCA1/2 founder pathogenic variants (PVs) occur in various populations, but data on the mutational spectrum in Africans are limited. We examined BRCA1/2 PVs in breast cancer patients of Ethiopian Jewish (EJ) origin.
methodsWe retrospectively analyzed BRCA1/2 test results and clinical features of EJ breast cancer patients from seven medical institutions. We obtained heterozygote carrier rates in affected individuals from the laboratories of the largest Israeli HMO (Clalit). Population carrier frequency was determined in EJ controls.
resultsWe identified three recurrent BRCA2 PVs in 11 EJ breast cancer patients (9 females, 2 males): c.7579delG, c.5159C > A, and c.9693delA. Only c.5159C > A was previously reported in Africans. In women, mean age at diagnosis was 35.7y; 8/9 were diagnosed with advanced disease. All tumors were invasive, 4/9 were triple negative. Only 3/11 carriers had relevant family history. Carrier rate in high-risk breast cancer patients was 11% (3/28; 95%CI [2.3%, 28.2%]). Combined carrier rate among controls was 1.8% (5/280; 95%CI [0.6%, 4.1%]).
conclusionEJs harbor 3 recurrent BRCA2 PVs presenting with relatively severe breast cancer morbidity. Combined with the high BRCA2 carrier rate in the EJ population, these findings merit increasing awareness in this community and suggest that a culturally adapted population screening approach may be warranted.
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