{"id":1065,"date":"2025-10-01T07:13:26","date_gmt":"2025-10-01T07:13:26","guid":{"rendered":"http:\/\/sebigec.es\/blog\/?guid=c505a5477ff8f9117e8e17ef60931565"},"modified":"2025-12-26T05:51:05","modified_gmt":"2025-12-26T05:51:05","slug":"multicentre-audit-reviewing-reporting-and-management-of-patients-with-incidentally-identified-structural-aberrations-involving-high-actionability-cancer-susceptibility-genes","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2025\/10\/01\/multicentre-audit-reviewing-reporting-and-management-of-patients-with-incidentally-identified-structural-aberrations-involving-high-actionability-cancer-susceptibility-genes\/","title":{"rendered":"Multicentre audit reviewing reporting and management of patients with incidentally identified structural aberrations involving high actionability cancer susceptibility genes"},"content":{"rendered":"\n<p>A structural aberration (SA) with secondary implications (SASIs) involving a cancer susceptibility gene is identified on chromosome microarray in approximately 0.6% tests performed on index cases. Identifying a SASI involving a high actionability cancer susceptibility gene (HA-CSG) has important genetic counselling and management implications for the individual and families. In 2019, a UK working group published recommendations for laboratories reporting SASIs involving HA-CSG. This study aims to evaluate whether these recommendations are reflected in the current UK practice. Data from a total of 63 cases of SASIs involving HA-CSGs from nine UK genetics centres were included for audit. The results have shown that 92% of microarray reports have the HA-CSG clearly named on the report, with 70% of reports having the anticipated increased risk of cancer stated. 73% of patients were appropriately managed for the associated cancer risk. For SAs where management was not given as per recommended guidelines, the identified variants were all within-gene duplications, which may represent the uncertainty around their potential to disrupt gene function and their association with true increased cancer susceptibility. This study demonstrates the practical implications of identifying a SA involving a HA-CSG and suggests room for improvement in clinical practice in reporting and management.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>A structural aberration (SA) with secondary implications (SASIs) involving a cancer susceptibility gene is identified on chromosome microarray in approximately 0.6% tests performed on index cases. Identifying a SASI involving a high actionability canc&#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,14],"tags":[83],"class_list":["post-1065","post","type-post","status-publish","format-standard","hentry","category-articulos","category-jmg","tag-jmedgenet"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1065","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"}],"replies":[{"embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/comments?post=1065"}],"version-history":[{"count":2,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1065\/revisions"}],"predecessor-version":[{"id":4736,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/1065\/revisions\/4736"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=1065"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=1065"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=1065"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}