{"id":116,"date":"2023-09-01T16:00:13","date_gmt":"2023-09-01T16:00:13","guid":{"rendered":"http:\/\/sebgc.es\/blog\/?guid=afab4a93373cc30f5e3fd9de57735efe"},"modified":"2024-01-19T10:35:25","modified_gmt":"2024-01-19T10:35:25","slug":"recurrent-brca2-exon-3-deletion-in-assyrian-families","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2023\/09\/01\/recurrent-brca2-exon-3-deletion-in-assyrian-families\/","title":{"rendered":"Recurrent BRCA2 exon 3 deletion in Assyrian families"},"content":{"rendered":"\n<p>We identified six patients from five families with a recurrent mutation: NM_000059.3 (<I>BRCA2<\/I>) 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 <I>BRCA2-<\/I>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 <I>BRCA2<\/I>-associated cancer. <I>BRCA2<\/I> 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 <I>BRCA2<\/I> pathogenic variant in five Assyrian families in a single centre cohort.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>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 &#8230;<\/p>\n","protected":false},"author":14,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,14],"tags":[],"class_list":["post-116","post","type-post","status-publish","format-standard","hentry","category-articulos","category-jmg"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/116","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/users\/14"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=116"}],"version-history":[{"count":2,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/116\/revisions"}],"predecessor-version":[{"id":411,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/116\/revisions\/411"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=116"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=116"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=116"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}