{"id":6452,"date":"2023-03-15T11:31:00","date_gmt":"2023-03-15T11:31:00","guid":{"rendered":"https:\/\/genekor.dermtherapy.gr\/2023\/12\/11\/analiza-variatiei-numarului-de-copii-copy-number-variation-cnv-si-investigatiile-suplimentare-la-nivel-de-arn-au-dezvaluit-duplicarea-patogena-a-exonului-15-din-gena-msh2-intr-o-familie-cu-sindrom\/"},"modified":"2025-04-11T11:38:55","modified_gmt":"2025-04-11T11:38:55","slug":"analiza-variatiei-numarului-de-copii-copy-number-variation-cnv-si-investigatiile-suplimentare-la-nivel-de-arn-au-dezvaluit-duplicarea-patogena-a-exonului-15-din-gena-msh2-intr-o-familie-cu-sindrom","status":"publish","type":"post","link":"https:\/\/genekor.com\/ro\/2023\/03\/15\/analiza-variatiei-numarului-de-copii-copy-number-variation-cnv-si-investigatiile-suplimentare-la-nivel-de-arn-au-dezvaluit-duplicarea-patogena-a-exonului-15-din-gena-msh2-intr-o-familie-cu-sindrom\/","title":{"rendered":"Analiza varia\u021biei num\u0103rului de copii (Copy Number Variation \u2013 CNV) \u0219i investiga\u021biile suplimentare la nivel de ARN au dezv\u0103luit duplicarea patogen\u0103 a exonului 15 din gena MSH2 \u00eentr-o familie cu sindrom Lynch."},"content":{"rendered":"\n<p>Noua publica\u021bie a echipei \u0219tiin\u021bifice Genekor privind: <em>&#8222;<strong>Analiza varia\u021biei num\u0103rului de copii (Copy Number Variation &#8211; CNV) \u0219i investiga\u021biile suplimentare la nivel de ARN au dezv\u0103luit duplicarea patogen\u0103 a exonului 15 din gena MSH2 \u00eentr-o familie cu sindrom Lynch.<\/strong>&#8222;<\/em> publicat \u00een <em>Journal of Clinical Images and Medical Case Reports.<\/em><\/p>\n\n\n\n<p>Potrivit studiului, variantele patogene din gena MSH2 sunt asociate cu sindromul Lynch, care predispune de obicei la cancer colorectal \u0219i endometrial. Duplic\u0103rile de exoni din gena MSH2, din cauza localiz\u0103rii lor \u00een genom \u0219i a mecanismelor de patogenez\u0103 adesea neclare, sunt de obicei clasificate ca variante de semnifica\u021bie incert\u0103 (VUS).<\/p>\n\n\n\n<p>Descrierea incidentului: Analiza CNV a eviden\u021biat duplicarea exonului 15 \u00een gena MSH2 la un t\u00e2n\u0103r pacient de sex masculin cu cancer colorectal \u0219i la membrii afecta\u021bi ai familiei sale, iar analiza ARN a indicat c\u0103 duplicarea comparat\u0103 are ca rezultat un transcript defectuos.<\/p>\n\n\n\n<p>S-a concluzionat c\u0103, combina\u021bia dintre CNV \u0219i analiza ARN este esen\u021bial\u0103 pentru g\u0103sirea \u0219i clasificarea rezultatelor, pacien\u021bii \u0219i membrii familiilor acestora primind informa\u021bii importante pentru un management clinic adecvat.<\/p>\n\n\n\n<p class=\"has-medium-font-size\"><strong>Citi\u021bi publica\u021bia complet\u0103 <a href=\"https:\/\/genekor.com\/wp-content\/uploads\/2023\/12\/CNV-and-RNA-analysis-reveal.pdf\">aici!<\/a><\/strong><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Noua publica\u021bie a echipei \u0219tiin\u021bifice Genekor privind: &#8222;Analiza varia\u021biei num\u0103rului de copii (Copy Number Variation &#8211; CNV) \u0219i investiga\u021biile suplimentare la nivel de ARN au dezv\u0103luit duplicarea patogen\u0103 a exonului [&hellip;]<\/p>\n","protected":false},"author":4,"featured_media":6041,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[33],"tags":[],"class_list":["post-6452","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-ro"],"acf":[],"yoast_head":"<!-- This site is optimized with the Yoast SEO Premium plugin v24.0 (Yoast SEO v24.0) - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Analiza 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