Common founder BRCA2 pathogenic variants and breast cancer characteristics in Ethiopian Jews

S. Lieberman*, R. Chen-Shtoyerman, Z. Levi, S. Shkedi-Rafid, S. Zuckerman, R. Bernstein-Molho, G. Reznick Levi, S. S. Shachar, A. Flugelman, V. Libman, I. Kedar, S. Naftaly-Nathan, I. Lagovsky, T. Peretz, N. Karminsky, S. Carmi, E. Levy-Lahad, Y. Goldberg

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Purpose: BRCA1/2 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. Methods: We 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. Results: We 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%]). Conclusion: EJs 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.

Original languageAmerican English
Pages (from-to)217-224
Number of pages8
JournalBreast Cancer Research and Treatment
Issue number1
StatePublished - May 2022

Bibliographical note

Publisher Copyright:
© 2022, The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.


  • BRCA2
  • Breast cancer
  • Ethiopian Jews
  • Founder mutations


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