我们在五个家庭中鉴定出六名患者具有一种复发性突变：NM_000059.3（BRCA2）exon 3缺失。所有家族自认为亚述人。亚述人是古代美索不达米亚的民族宗教群体，现多居住在伊拉克、叙利亚、土耳其和伊朗地区。他们在历史上是一个社会隔离的群体，在他们的社区内通婚，生活在主要是穆斯林国家中作为宗教和语言少数群体。每个家族的代表都表现出典型的BRCA2相关癌症，包括早发性乳腺癌、上皮性浆液性卵巢癌、男性乳腺癌和/或高级别前列腺癌，并且家族历史中也有BRCA2相关癌症的重要病史。BRCA2 exon 3缺失被归类为致病性，并且在文献中已有描述，但尚未在特定人群中描述为创始突变。我们在单一中心队列中对五个亚述家族中的这种复发性BRCA2致病性变异进行了特征化研究。 © 作者（或其雇主）2023。不得进行商业再利用。请参阅权利和权限。由BMJ出版。

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.© Author(s) (or their employer(s)) 2023. No commercial re-use. See rights and permissions. Published by BMJ.