{"id":231,"date":"2023-12-22T17:00:15","date_gmt":"2023-12-22T17:00:15","guid":{"rendered":"http:\/\/sebgc.es\/blog\/?guid=7202cd92fd90eb546bd31bb4a91d38c1"},"modified":"2023-12-22T17:00:15","modified_gmt":"2023-12-22T17:00:15","slug":"breast-cancer-risk-in-nf1-deleted-patients","status":"publish","type":"post","link":"https:\/\/sebigec.es\/blog\/index.php\/2023\/12\/22\/breast-cancer-risk-in-nf1-deleted-patients\/","title":{"rendered":"Breast cancer risk in NF1-deleted patients"},"content":{"rendered":"<p>Neurofibromatosis type 1 (NF1, OMIM #162200) is a genetic condition with an autosomal dominant transmission. The disorder is caused by loss-of-function variants in <I>NF1<\/I>. The tumour suppressor gene <I>NF1<\/I> (OMIM *613113) encodes neurofibromin, a negative regulator of the RAS-mitogen-activated protein kinase (MAPK) pathway. NF1 is associated with an increased risk of developing malignant tumours, mainly malignant peripheral nerve sheath tumours.<cross-ref type=\"bib\" refid=\"R1\">1<\/cross-ref><\/p><p>NF1 women were previously reported to have standardised incidence ratio (SIR) for the development of breast cancer (BC) of 3.5 compared with the general population,<cross-ref type=\"bib\" refid=\"R2\">2<\/cross-ref> with an SIR of 11.1 in women aged under 40 years.<cross-ref type=\"bib\" refid=\"R3\">3<\/cross-ref> Some NF1 patients were eventually described with bilateral BC,<cross-ref type=\"bib\" refid=\"R4\">4&ndash;8<\/cross-ref><cross-ref type=\"bib\" refid=\"R5\"><\/cross-ref><cross-ref type=\"bib\" refid=\"R6\"><\/cross-ref><cross-ref type=\"bib\" refid=\"R7\"><\/cross-ref><cross-ref type=\"bib\" refid=\"R8\"><\/cross-ref> a poor prognosis condition.<cross-ref type=\"bib\" refid=\"R9\">9<\/cross-ref> In a study published in 2019, Frayling <I>et al<\/I> identified the germline <I>NF1<\/I> pathogenic variants in an international cohort of 78 NF1 patients with...","protected":false},"excerpt":{"rendered":"<p>Neurofibromatosis type 1 (NF1, OMIM #162200) is a genetic condition with an autosomal dominant transmission. The disorder is caused by loss-of-function variants in NF1. The tumour suppressor gene NF1 (OMIM *613113) encodes neurofibromin, a negative reg&#8230;<\/p>\n","protected":false},"author":0,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[6,8],"tags":[],"class_list":["post-231","post","type-post","status-publish","format-standard","hentry","category-articulos","category-jmg-first"],"_links":{"self":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/231","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=231"}],"version-history":[{"count":1,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/231\/revisions"}],"predecessor-version":[{"id":232,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/posts\/231\/revisions\/232"}],"wp:attachment":[{"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/media?parent=231"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/categories?post=231"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/sebigec.es\/blog\/index.php\/wp-json\/wp\/v2\/tags?post=231"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}