{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,6]],"date-time":"2025-10-06T03:41:30Z","timestamp":1759722090488,"version":"build-2065373602"},"reference-count":22,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["J Med Genet"],"accepted":{"date-parts":[[2023,8,21]]},"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:p>We identified six patients from five families with a recurrent mutation: NM_000059.3 (<jats:italic>BRCA2<\/jats:italic>) 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 <jats:italic>BRCA2-<\/jats:italic>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 <jats:italic>BRCA2<\/jats:italic>-associated cancer. <jats:italic>BRCA2<\/jats:italic> 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 <jats:italic>BRCA2<\/jats:italic> pathogenic variant in five Assyrian families in a single centre cohort.<\/jats:p>","DOI":"10.1136\/jmg-2023-109430","type":"journal-article","created":{"date-parts":[[2023,9,1]],"date-time":"2023-09-01T13:20:33Z","timestamp":1693574433000},"page":"155-157","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Recurrent <i>BRCA2<\/i> exon 3 deletion in Assyrian families"],"prefix":"10.1136","volume":"61","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2887-4079","authenticated-orcid":false,"given":"Rachel","family":"Hodan","sequence":"first","affiliation":[{"name":"Cancer Genetics, Stanford Health Care, Stanford, California, USA"},{"name":"Department of Pediatrics (Genetics), Stanford University School of Medicine, Stanford, California, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kerry","family":"Kingham","sequence":"additional","affiliation":[{"name":"Cancer Genetics, Stanford Health Care, Stanford, California, USA"},{"name":"Department of Pediatrics (Genetics), Stanford University School of Medicine, Stanford, California, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Allison W","family":"Kurian","sequence":"additional","affiliation":[{"name":"Department of Medicine, Stanford University School of Medicine, Stanford, California, USA"},{"name":"Department of Epidemiology and Population Health, Stanford University School of Medicine, Stanford, California, 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