{"id":12743,"date":"2024-09-11T11:03:04","date_gmt":"2024-09-11T11:03:04","guid":{"rendered":"https:\/\/genekor.com\/?p=12743"},"modified":"2024-09-17T09:22:35","modified_gmt":"2024-09-17T09:22:35","slug":"the-clinical-and-genetic-landscape-of-hereditary-cancer","status":"publish","type":"post","link":"https:\/\/genekor.com\/et\/2024\/09\/11\/the-clinical-and-genetic-landscape-of-hereditary-cancer\/","title":{"rendered":"Uus uuring: P\u00e4riliku v\u00e4hi kliiniline ja geneetiline maastik: Kogemus \u00fchest diagnostika laborist."},"content":{"rendered":"\n<p>J\u00e4rgmise p\u00f5lvkonna sekveneerimistehnoloogia (NGS) rakendamine p\u00e4riliku v\u00e4hi geneetilisel uurimisel on oluline kliinilise j\u00e4lgimise, terapeutilise l\u00e4henemise ja uute pahaloomuliste kasvajate tekkeriski v\u00e4hendamiseks.<\/p>\n\n\n\n<p>Uuringu eesm\u00e4rk oli anal\u00fc\u00fcsida p\u00e4riliku v\u00e4higa seotud isikute geneetilist eelsoodumust.<\/p>\n\n\n\n<p>Perioodil 2020-2023 anal\u00fc\u00fcsiti kokku 8261 patsiendi proovi, kasutades selleks j\u00e4rgmise p\u00f5lvkonna sekveneerimistehnoloogial (NGS) p\u00f5hinevat multigeenset geenitesti. Uuritud patsientidest oli diagnoositud rinnav\u00e4hk 56,17%, munasarjav\u00e4hk 6,77%, kolorektaalv\u00e4hk 2,88%, eesn\u00e4\u00e4rmev\u00e4hk 1,91%. 6,43% uuringus osalenutest olid terved, kuid m\u00e4rkimisv\u00e4\u00e4rse perekondliku v\u00e4hi ajalooga, 3,06% esines m\u00f5ni teine v\u00e4hi t\u00fc\u00fcp ning 0,21% uuringus osalenutest ei edastanud teavet diagnoosi osas.&nbsp; Lisaks teostati 85 rinnav\u00e4higa naisel kogu eksoomi sekveneerimise anal\u00fc\u00fcsi.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"h-tulemused\">Tulemused:<\/h3>\n\n\n\n<p>20% uuritud isikutest kandis patogeenset varianti. T\u00e4psemalt oli 54,8% patsientidest patogeenne variant kliiniliselt olulises geenis (BRCA1, BRCA2, PALB2, RAD51C, PMS2, CDKN2A, MLH1, MSH2, TP53, MSH6, APC, RAD51D, PTEN, RET, CDH1, MEN1 ja VHL). Erinevat t\u00fc\u00fcpi tuvastatud patogeensete variantide hulgas oli m\u00e4rkimisv\u00e4\u00e4rne protsent (6,52%) koopiaarvu variatsioone (CNV). J\u00e4reldus: patogeensete variantide kandjate asjakohaseks j\u00e4lgimiseks on vajalik p\u00f5hjalik multigeenne geneetiline testimine. Lisaks on saadud teave oluline uuritud isikute pereliikmete pahaloomuliste kasvajate tekke riski m\u00e4\u00e4ramiseks.<\/p>\n\n\n\n<h3 class=\"wp-block-heading\" id=\"h-jareldus\">J\u00e4reldus:<\/h3>\n\n\n\n<p>See uuring t\u00e4histab olulist verstaposti kui k\u00f5ige p\u00f5hjalikum uurimus, mille on l\u00e4bi viinud \u00fcks Kreeka kliiniline diagnostikakeskus, h\u00f5lmates enam kui 8000 inimese p\u00e4riliku v\u00e4hi uurimist, kasutades selleks NGS-tehnoloogiat alates 2015. aastast. Sellest uuringust saadud tulemused pakuvad tervishoiuteenuste osutajatele teavet, mis v\u00f5imaldab kohandada patsiendihooldusstrateegiaid, mis p\u00f5hinevad geneetika keerukatel n\u00fcanssidel, selle asemel, et tugineda ainult traditsioonilisele patsiendi ja tema perekonna anamneesile.<\/p>\n\n\n\n<p>Eelk\u00f5ige v\u00f5ib patogeensete variantide tuvastamine mitme geeni vahel pakkuda hindamatut teavet teatud perekondades t\u00e4heldatud kasvajat\u00fc\u00fcpidest, andes infot potentsiaalse geneetilise eelsoodumuse ja v\u00f5imaliku sihtm\u00e4rkravi kohta.<\/p>\n\n\n\n<p>Kuigi need esialgsed tulemused on paljulubavad, on h\u00e4davajalikud edasised uurimist\u00f6\u00f6d. Planeeritavad uuringud, mis h\u00f5lmavad suuremat perede r\u00fchma ja kasutavad t\u00e4iustatud kogu eksoomi sekveneerimise (WES-i) tehnikaid, peavad kinnitama ja tuginema esialgsetele j\u00e4reldustele, v\u00f5imaldades t\u00e4psemaid ja personaliseeritud l\u00e4henemisviise v\u00e4hkt\u00f5ve ravis ja ennetamisel.<\/p>\n\n\n\n<p>Loe kogu uuringut siit:<a href=\" https:\/\/genekor.com\/wp-content\/uploads\/2024\/09\/cgp-21-448.pdf\"> https:\/\/genekor.com\/wp-content\/uploads\/2024\/09\/cgp-21-448.pdf<\/a><\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"875\" height=\"760\" src=\"https:\/\/genekor.com\/wp-content\/uploads\/2024\/09\/Picture1-2.png\" alt=\"\" class=\"wp-image-12696\" srcset=\"https:\/\/genekor.com\/wp-content\/uploads\/2024\/09\/Picture1-2.png 875w, https:\/\/genekor.com\/wp-content\/uploads\/2024\/09\/Picture1-2-300x261.png 300w, https:\/\/genekor.com\/wp-content\/uploads\/2024\/09\/Picture1-2-768x667.png 768w\" sizes=\"auto, (max-width: 875px) 100vw, 875px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"875\" height=\"577\" src=\"https:\/\/genekor.com\/wp-content\/uploads\/2024\/09\/Picture2-3.png\" alt=\"\" class=\"wp-image-12718\" srcset=\"https:\/\/genekor.com\/wp-content\/uploads\/2024\/09\/Picture2-3.png 875w, https:\/\/genekor.com\/wp-content\/uploads\/2024\/09\/Picture2-3-300x198.png 300w, https:\/\/genekor.com\/wp-content\/uploads\/2024\/09\/Picture2-3-768x506.png 768w\" sizes=\"auto, (max-width: 875px) 100vw, 875px\" \/><\/figure>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>J\u00e4rgmise p\u00f5lvkonna sekveneerimistehnoloogia (NGS) rakendamine p\u00e4riliku v\u00e4hi geneetilisel uurimisel on oluline kliinilise j\u00e4lgimise, terapeutilise l\u00e4henemise ja uute pahaloomuliste kasvajate tekkeriski v\u00e4hendamiseks. Uuringu eesm\u00e4rk oli anal\u00fc\u00fcsida p\u00e4riliku v\u00e4higa seotud isikute geneetilist [&hellip;]<\/p>\n","protected":false},"author":5,"featured_media":12578,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[94],"tags":[],"class_list":["post-12743","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-et"],"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>Uus uuring: P\u00e4riliku v\u00e4hi kliiniline ja geneetiline maastik: Kogemus \u00fchest diagnostika laborist. - Genekor<\/title>\n<meta name=\"description\" content=\"J\u00e4rgmise p\u00f5lvkonna sekveneerimistehnoloogia (NGS) rakendamine p\u00e4riliku v\u00e4hi geneetilisel uurimisel on oluline kliinilise j\u00e4lgimise, terapeutilise l\u00e4henemise ja uute pahaloomuliste kasvajate tekkeriski v\u00e4hendamiseks.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/genekor.com\/et\/2024\/09\/11\/the-clinical-and-genetic-landscape-of-hereditary-cancer\/\" \/>\n<meta property=\"og:locale\" content=\"et_EE\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Uus uuring: P\u00e4riliku v\u00e4hi kliiniline ja geneetiline maastik: Kogemus \u00fchest diagnostika laborist.\" \/>\n<meta property=\"og:description\" content=\"J\u00e4rgmise p\u00f5lvkonna sekveneerimistehnoloogia (NGS) rakendamine p\u00e4riliku v\u00e4hi geneetilisel uurimisel on oluline kliinilise j\u00e4lgimise, terapeutilise l\u00e4henemise ja uute pahaloomuliste kasvajate tekkeriski v\u00e4hendamiseks.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/genekor.com\/et\/2024\/09\/11\/the-clinical-and-genetic-landscape-of-hereditary-cancer\/\" \/>\n<meta property=\"og:site_name\" content=\"Genekor\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/genekorbiotechnology\/\" \/>\n<meta property=\"article:published_time\" content=\"2024-09-11T11:03:04+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2024-09-17T09:22:35+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/genekor.com\/wp-content\/uploads\/2024\/09\/AdobeStock_244908907-scaled.jpeg\" \/>\n\t<meta property=\"og:image:width\" content=\"2560\" \/>\n\t<meta property=\"og:image:height\" content=\"1709\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Ioanna Potska\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"Ioanna Potska\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutit\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/genekor.com\/et\/2024\/09\/11\/the-clinical-and-genetic-landscape-of-hereditary-cancer\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/genekor.com\/et\/2024\/09\/11\/the-clinical-and-genetic-landscape-of-hereditary-cancer\/\"},\"author\":{\"name\":\"Ioanna Potska\",\"@id\":\"https:\/\/genekor.com\/et\/#\/schema\/person\/d6c43cd4b4be66582d408967392cbcbd\"},\"headline\":\"Uus uuring: P\u00e4riliku v\u00e4hi kliiniline ja geneetiline maastik: Kogemus \u00fchest diagnostika laborist.\",\"datePublished\":\"2024-09-11T11:03:04+00:00\",\"dateModified\":\"2024-09-17T09:22:35+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/genekor.com\/et\/2024\/09\/11\/the-clinical-and-genetic-landscape-of-hereditary-cancer\/\"},\"wordCount\":369,\"publisher\":{\"@id\":\"https:\/\/genekor.com\/et\/#organization\"},\"image\":{\"@id\":\"https:\/\/genekor.com\/et\/2024\/09\/11\/the-clinical-and-genetic-landscape-of-hereditary-cancer\/#primaryimage\"},\"thumbnailUrl\":\"https:\/\/genekor.com\/wp-content\/uploads\/2024\/09\/AdobeStock_244908907-scaled.jpeg\",\"articleSection\":[\"Uncategorized @et\"],\"inLanguage\":\"et\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/genekor.com\/et\/2024\/09\/11\/the-clinical-and-genetic-landscape-of-hereditary-cancer\/\",\"url\":\"https:\/\/genekor.com\/et\/2024\/09\/11\/the-clinical-and-genetic-landscape-of-hereditary-cancer\/\",\"name\":\"Uus uuring: P\u00e4riliku v\u00e4hi kliiniline ja geneetiline maastik: Kogemus \u00fchest diagnostika laborist. - 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