{"id":12746,"date":"2024-09-11T11:03:04","date_gmt":"2024-09-11T11:03:04","guid":{"rendered":"https:\/\/genekor.com\/?p=12746"},"modified":"2025-02-21T09:38:58","modified_gmt":"2025-02-21T09:38:58","slug":"the-clinical-and-genetic-landscape-of-hereditary-cancer","status":"publish","type":"post","link":"https:\/\/genekor.com\/cs\/2024\/09\/11\/the-clinical-and-genetic-landscape-of-hereditary-cancer\/","title":{"rendered":"Nov\u00e1 studie: \u201eZhodnocen\u00ed klinick\u00e9 a genetick\u00e9 problematiky heredit\u00e1rn\u00edho n\u00e1dorov\u00e9ho onemocn\u011bn\u00ed: Zku\u0161enosti z klinick\u00e9 diagnostick\u00e9 laborato\u0159e\u201c"},"content":{"rendered":"\n<p>Pou\u017eit\u00ed technologie sekvenov\u00e1n\u00ed nov\u00e9 generace (NGS) v genetick\u00e9m v\u00fdzkumu d\u011bdi\u010dn\u00fdch n\u00e1dor\u016f je kl\u00ed\u010dov\u00e9 pro klinick\u00fd dohled, terapeutick\u00e9 p\u0159\u00edstupy a sn\u00ed\u017een\u00ed rizika vzniku nov\u00fdch malignit.<\/p>\n\n\n\n<p>C\u00edlem studie bylo zkoumat genetickou predispozici u jedinc\u016f odeslan\u00fdch na vy\u0161et\u0159en\u00ed d\u011bdi\u010dn\u00e9 rakoviny.<\/p>\n\n\n\n<p>V obdob\u00ed 2020-2023 podstoupilo celkem 8 261 osob multigenov\u00e9 testov\u00e1n\u00ed pomoc\u00ed NGS (Next Generation Sequencing)<strong>. <\/strong>Mezi testovan\u00fdmi osobami bylo 56,17 % diagnostikov\u00e1no s rakovinou prsu, 6,77 % s rakovinou vaje\u010dn\u00edk\u016f, 2,88 % s rakovinou kolorekt\u00e1lu, 1,91 % s rakovinou prostaty. 3,06 % m\u011blo jin\u00fd typ rakoviny a u 0,21 % testovan\u00fdch osob nebyla up\u0159esn\u011bna diagn\u00f3za. U 6,43 % testovan\u00fdch osob nebyl potvrzen \u017e\u00e1dn\u00fd malign\u00ed n\u00e1lez, p\u0159esto\u017ee m\u011bli pacienti uvedenou v\u00fdznamnou rodinnou anamn\u00e9zu rakoviny. 85 pacientek s diagn\u00f3zou karcinomu prsu bylo nav\u00edc podrobeno celoexomov\u00e9mu skenov\u00e1n\u00ed.<\/p>\n\n\n\n<p><strong>V\u00fdsledky<\/strong><\/p>\n\n\n\n<p>20 % zkouman\u00fdch jedinc\u016f neslo patogenn\u00ed variantu. Konkr\u00e9tn\u011b 54,8 % pacient\u016f m\u011blo patogenn\u00ed variantu v klinicky v\u00fdznamn\u00e9m genu (BRCA1, BRCA2, PALB2, RAD51C, PMS2, CDKN2A, MLH1, MSH2, TP53, MSH6, APC, RAD51D, PTEN, RET, CDH1, MEN1 a VHL). Mezi r\u016fzn\u00fdmi typy detekovan\u00fdch patogenn\u00edch variant p\u0159edstavovalo v\u00fdznamn\u00e9 procento (6,52 %) variabilita po\u010dtu kopi\u00ed (CNV).<\/p>\n\n\n\n<p><strong>Z\u00e1v\u011br<\/strong><\/p>\n\n\n\n<p>Tato studie p\u0159edstavuje v\u00fdznamn\u00fd miln\u00edk jako nejrozs\u00e1hlej\u0161\u00ed v\u00fdzkum proveden\u00fd jednou klinickou diagnostickou laborato\u0159\u00ed v \u0158ecku, zahrnuj\u00edc\u00ed vy\u0161et\u0159en\u00ed v\u00edce ne\u017e 8 000 jedinc\u016f na d\u011bdi\u010dnou rakovinu pomoc\u00ed technologie NGS od roku 2015. Z\u00edskan\u00e9 poznatky maj\u00ed transforma\u010dn\u00ed potenci\u00e1l pro poskytovatele zdravotn\u00ed p\u00e9\u010de, umo\u017e\u0148uj\u00edc\u00ed jim p\u0159izp\u016fsobit strategie p\u00e9\u010de o pacienty na z\u00e1klad\u011b slo\u017eit\u00fdch nuanc\u00ed genetick\u00e9ho profilu, m\u00edsto spol\u00e9h\u00e1n\u00ed se pouze na tradi\u010dn\u00ed osobn\u00ed a rodinnou anamn\u00e9zu.<\/p>\n\n\n\n<p>Zejm\u00e9na identifikace patogenn\u00edch variant (PVs) nap\u0159\u00ed\u010d v\u00edce geny m\u016f\u017ee p\u0159in\u00e9st neoceniteln\u00e9 poznatky o slo\u017eit\u00e9 \u0161k\u00e1le typ\u016f n\u00e1dor\u016f pozorovan\u00fdch v ur\u010dit\u00fdch rodin\u00e1ch, objasnit mo\u017en\u00e9 genetick\u00e9 predispozice a podpo\u0159it c\u00edlen\u00e9 p\u0159\u00edstupy k l\u00e9\u010db\u011b.<\/p>\n\n\n\n<p>P\u0159esto\u017ee jsou tato po\u010d\u00e1te\u010dn\u00ed zji\u0161t\u011bn\u00ed slibn\u00e1, je nezbytn\u00e9 dal\u0161\u00ed \u00fasil\u00ed v oblasti v\u00fdzkumu k upevn\u011bn\u00ed a roz\u0161\u00ed\u0159en\u00ed t\u011bchto objev\u016f. Budouc\u00ed studie zahrnuj\u00edc\u00ed v\u011bt\u0161\u00ed po\u010det rodin a vyu\u017e\u00edvaj\u00edc\u00ed pokro\u010dil\u00e9 techniky sekvenov\u00e1n\u00ed cel\u00e9ho exomu (WES) jsou nezbytn\u00e9 k potvrzen\u00ed a rozvoji t\u011bchto po\u010d\u00e1te\u010dn\u00edch poznatk\u016f, co\u017e nakonec otev\u0159e cestu k p\u0159esn\u011bj\u0161\u00edm a personalizovan\u00fdm p\u0159\u00edstup\u016fm v \u0159\u00edzen\u00ed a prevenci rakoviny.<\/p>\n\n\n\n<p>Celou studii si m\u016f\u017eete p\u0159e\u010d\u00edst zde: <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<p><\/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\/Picture1-3.png\" alt=\"\" class=\"wp-image-12748\" srcset=\"https:\/\/genekor.com\/wp-content\/uploads\/2024\/09\/Picture1-3.png 875w, https:\/\/genekor.com\/wp-content\/uploads\/2024\/09\/Picture1-3-300x261.png 300w, https:\/\/genekor.com\/wp-content\/uploads\/2024\/09\/Picture1-3-768x667.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-12716\" 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","protected":false},"excerpt":{"rendered":"<p>Pou\u017eit\u00ed technologie sekvenov\u00e1n\u00ed nov\u00e9 generace (NGS) v genetick\u00e9m v\u00fdzkumu d\u011bdi\u010dn\u00fdch n\u00e1dor\u016f je kl\u00ed\u010dov\u00e9 pro klinick\u00fd dohled, terapeutick\u00e9 p\u0159\u00edstupy a sn\u00ed\u017een\u00ed rizika vzniku nov\u00fdch malignit. C\u00edlem studie bylo zkoumat genetickou predispozici [&hellip;]<\/p>\n","protected":false},"author":5,"featured_media":12577,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[78],"tags":[],"class_list":["post-12746","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-uncategorized-cs"],"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>Nov\u00e1 studie: \u201eZhodnocen\u00ed klinick\u00e9 a genetick\u00e9 problematiky heredit\u00e1rn\u00edho n\u00e1dorov\u00e9ho onemocn\u011bn\u00ed: Zku\u0161enosti z klinick\u00e9 diagnostick\u00e9 laborato\u0159e\u201c - Genekor<\/title>\n<meta name=\"description\" content=\"Studie o genetick\u00e9 predispozici k d\u011bdi\u010dn\u00e9 rakovin\u011b pomoc\u00ed NGS technologie odhaluje patogenn\u00ed varianty pro personalizovanou l\u00e9\u010dbu.\" \/>\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\/cs\/2024\/09\/11\/the-clinical-and-genetic-landscape-of-hereditary-cancer\/\" \/>\n<meta property=\"og:locale\" content=\"cs_CZ\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Nov\u00e1 studie: \u201eZhodnocen\u00ed klinick\u00e9 a genetick\u00e9 problematiky heredit\u00e1rn\u00edho n\u00e1dorov\u00e9ho onemocn\u011bn\u00ed: Zku\u0161enosti z klinick\u00e9 diagnostick\u00e9 laborato\u0159e\u201c\" \/>\n<meta property=\"og:description\" content=\"Studie o genetick\u00e9 predispozici k d\u011bdi\u010dn\u00e9 rakovin\u011b pomoc\u00ed NGS technologie odhaluje patogenn\u00ed varianty pro personalizovanou l\u00e9\u010dbu.\" \/>\n<meta property=\"og:url\" content=\"https:\/\/genekor.com\/cs\/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=\"2025-02-21T09:38:58+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=\"Napsal(a)\" \/>\n\t<meta name=\"twitter:data1\" content=\"Ioanna Potska\" \/>\n\t<meta name=\"twitter:label2\" content=\"Odhadovan\u00e1 doba \u010dten\u00ed\" \/>\n\t<meta name=\"twitter:data2\" content=\"3 minuty\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/genekor.com\/cs\/2024\/09\/11\/the-clinical-and-genetic-landscape-of-hereditary-cancer\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/genekor.com\/cs\/2024\/09\/11\/the-clinical-and-genetic-landscape-of-hereditary-cancer\/\"},\"author\":{\"name\":\"Ioanna Potska\",\"@id\":\"https:\/\/genekor.com\/cs\/#\/schema\/person\/d6c43cd4b4be66582d408967392cbcbd\"},\"headline\":\"Nov\u00e1 studie: \u201eZhodnocen\u00ed klinick\u00e9 a genetick\u00e9 problematiky heredit\u00e1rn\u00edho n\u00e1dorov\u00e9ho onemocn\u011bn\u00ed: Zku\u0161enosti z klinick\u00e9 diagnostick\u00e9 laborato\u0159e\u201c\",\"datePublished\":\"2024-09-11T11:03:04+00:00\",\"dateModified\":\"2025-02-21T09:38:58+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\/\/genekor.com\/cs\/2024\/09\/11\/the-clinical-and-genetic-landscape-of-hereditary-cancer\/\"},\"wordCount\":471,\"publisher\":{\"@id\":\"https:\/\/genekor.com\/cs\/#organization\"},\"image\":{\"@id\":\"https:\/\/genekor.com\/cs\/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 @cs\"],\"inLanguage\":\"cs\"},{\"@type\":\"WebPage\",\"@id\":\"https:\/\/genekor.com\/cs\/2024\/09\/11\/the-clinical-and-genetic-landscape-of-hereditary-cancer\/\",\"url\":\"https:\/\/genekor.com\/cs\/2024\/09\/11\/the-clinical-and-genetic-landscape-of-hereditary-cancer\/\",\"name\":\"Nov\u00e1 studie: \u201eZhodnocen\u00ed klinick\u00e9 a genetick\u00e9 problematiky heredit\u00e1rn\u00edho n\u00e1dorov\u00e9ho onemocn\u011bn\u00ed: Zku\u0161enosti z klinick\u00e9 diagnostick\u00e9 laborato\u0159e\u201c - 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