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Short report
Recurrent BRCA2 exon 3 deletion in Assyrian families
  1. Rachel Hodan1,2,
  2. Kerry Kingham1,2,
  3. Allison W Kurian3,4
  1. 1Cancer Genetics, Stanford Health Care, Stanford, California, USA
  2. 2Department of Pediatrics (Genetics), Stanford University School of Medicine, Stanford, California, USA
  3. 3Department of Medicine, Stanford University School of Medicine, Stanford, California, USA
  4. 4Department of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, California, USA
  1. Correspondence to Rachel Hodan, Stanford Health Care, Stanford, California, 94304, USA; rhodan{at}


We identified six patients from five families with a recurrent mutation: NM_000059.3 (BRCA2) exon 3 deletion. All families self-identified as Assyrian. Assyrians are an ethnoreligious population of ancient Mesopotamia, now mostly living in modern day Iraq, Syria, Turkey and Iran. They are historically a socially isolated population with intermarriage within their community, living as a religious and language minority in mostly Muslim countries. The probands of each family presented with a classic BRCA2-associated cancer including early-onset breast cancer, epithelial serous ovarian cancer, male breast cancer and/or high-grade prostate cancer, and family history that was also significant for BRCA2-associated cancer. BRCA2 exon 3 deletion is classified as pathogenic and has been previously described in the literature, but it has not been described as a founder mutation in a particular population. We characterise this recurrent BRCA2 pathogenic variant in five Assyrian families in a single centre cohort.

  • Genetics
  • Founder Effect

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  • RH and KK contributed equally.

  • Contributors KK conceived the study. All authors analysed the data and provided clinical cases. RH wrote the manuscript and all authors edited. All authors reviewed and approved the final manuscript.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned; externally peer reviewed.