Recurrent BRCA2 exon 3 deletion in Assyrian families

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.

Automated summary

We identified a recurrent mutation in six patients from five Assyrian families, characterized by NM_000059.3 (BRCA2) exon 3 deletion. This mutation is associated with a classic BRCA2-associated cancer, occurring in individuals with early-onset breast cancer, ovarian cancer, male breast cancer, and/or high-grade prostate cancer. The mutation, classified as pathogenic, has not been previously identified as a founder mutation in a specific population, making our findings significant.