{"id":4579,"date":"2026-01-23T19:00:00","date_gmt":"2026-01-23T19:00:00","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=b18ebc331a975ac13077096d30f40fc9"},"modified":"2026-01-31T11:00:00","modified_gmt":"2026-01-31T11:00:00","slug":"characterization-of-large-genomic-rearrangements-in-brca1-and-brca2-genes-in-a-chinese-high-risk-cohort","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2026\/01\/23\/characterization-of-large-genomic-rearrangements-in-brca1-and-brca2-genes-in-a-chinese-high-risk-cohort\/","title":{"rendered":"Characterization of Large Genomic Rearrangements in BRCA1 and BRCA2 Genes in a Chinese High-Risk Cohort"},"content":{"rendered":"Large genomic rearrangements (LGRs) account for at least 10% of the mutations in BRCA1 and 5% of BRCA2 mutations in outbred families with hereditary breast and ovarian cancer. A total of 21 probands with breast cancer who carried BRCA1 or BRCA2 LGRs were identified from a cohort of 4678 Chinese patients. There was a total of 13 BRCA1 LGR carriers and 8 BRCA2 LGR carriers, including 12 large genomic deletions and 1 duplication. Ten and three specific breakpoints from BRCA1 and BRCA2, respectively, were identified by either whole-genome sequencing by nanopore sequencing or long-range PCR.","protected":false},"excerpt":{"rendered":"<p>Large genomic rearrangements (LGRs) account for at least 10% of the mutations in BRCA1 and 5% of BRCA2 mutations in outbred families with hereditary breast and ovarian cancer. A total of 21 probands with breast cancer who carried BRCA1 or BRCA2 LGRs we&#8230;<\/p>\n","protected":false},"author":318,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,54],"tags":[55],"class_list":["post-4579","post","type-post","status-publish","format-standard","hentry","category-articulos","category-the-journal-of-molecular-diagnostics","tag-jmoldiagn"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/4579","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\/318"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=4579"}],"version-history":[{"count":169,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/4579\/revisions"}],"predecessor-version":[{"id":5017,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/4579\/revisions\/5017"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=4579"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=4579"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=4579"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}