{"id":5835,"date":"2022-09-13T10:51:00","date_gmt":"2022-09-13T10:51:00","guid":{"rendered":"https:\/\/genekor.dermtherapy.gr\/2023\/12\/06\/testarea-genetica-in-cascada-au-fost-facute-doar-in-cazul-a-31-din-familiile-initiale-cu-variante-patogene-in-genele-cancerului-mamar\/"},"modified":"2024-04-19T07:14:23","modified_gmt":"2024-04-19T07:14:23","slug":"testarea-genetica-in-cascada-au-fost-facute-doar-in-cazul-a-31-din-familiile-initiale-cu-variante-patogene-in-genele-cancerului-mamar","status":"publish","type":"post","link":"https:\/\/genekor.com\/ro\/2022\/09\/13\/testarea-genetica-in-cascada-au-fost-facute-doar-in-cazul-a-31-din-familiile-initiale-cu-variante-patogene-in-genele-cancerului-mamar\/","title":{"rendered":"Testarea genetic\u0103 \u00een cascad\u0103 au fost f\u0103cute doar \u00een cazul a 31% din familiile ini\u021biale cu variante patogene \u00een genele cancerului mamar"},"content":{"rendered":"\n<p>Studiul echipei \u0219tiin\u021bifice Genekor privind<strong>\u201eTest\u0103rile genetice \u00een cascad\u0103 au fost f\u0103cute doar \u00een cazul a 31% din familiile ini\u021biale cu variante patogene \u00een genele cancerului mamar\u201d<\/strong> a fost prezentat la ESMO CONGRESS 2022 sub forma unui poster de c\u0103tre medicii Ziogas Dimitrios (Patolog-Oncolog A, Clinica de Oncologie, Spitalul General al Poporului din Atena) \u0219i Giassa Styliano (Patolog-Oncolog, Director B, Clinica de Oncologie, Spitalul Iasso).<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"1024\" src=\"https:\/\/genekor.com\/wp-content\/uploads\/2023\/12\/ESMO-CONGRESS-2022-Poster-for-Cascade-genetic-testing_1-1024x1024.png\" alt=\"\" class=\"wp-image-5539\" srcset=\"https:\/\/genekor.com\/wp-content\/uploads\/2023\/12\/ESMO-CONGRESS-2022-Poster-for-Cascade-genetic-testing_1-1024x1024.png 1024w, https:\/\/genekor.com\/wp-content\/uploads\/2023\/12\/ESMO-CONGRESS-2022-Poster-for-Cascade-genetic-testing_1-300x300.png 300w, https:\/\/genekor.com\/wp-content\/uploads\/2023\/12\/ESMO-CONGRESS-2022-Poster-for-Cascade-genetic-testing_1-150x150.png 150w, https:\/\/genekor.com\/wp-content\/uploads\/2023\/12\/ESMO-CONGRESS-2022-Poster-for-Cascade-genetic-testing_1-768x768.png 768w, https:\/\/genekor.com\/wp-content\/uploads\/2023\/12\/ESMO-CONGRESS-2022-Poster-for-Cascade-genetic-testing_1.png 1080w\" sizes=\"auto, (max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p>Scopul acestui studiu este de a examina utilitatea clinic\u0103 \u0219i implementarea test\u0103rii familiale \u00een cascad\u0103 <strong>(CFT)<\/strong> \u00een cazul familiilor pacien\u021bilor cu cancer mamar cu variante patogene\/probabil patogene <strong>(PV\/LPV)<\/strong>.<\/p>\n\n\n\n<p>\u00centr-o cohort\u0103 de <strong>1785 de pacien\u021bi cu cancer mamar<\/strong>, PV\/LPV au fost g\u0103site la 362 de pacien\u021bi (20,3%). \u00cen mod specific, 52,2%, 25,1% \u0219i 22,7% dintre pacien\u021bii pozitivi au avut constat\u0103ri \u00een genele de susceptibilitate a cancerului cu penetran\u021b\u0103 mare, moderat\u0103 \u0219i, respectiv, sc\u0103zut\u0103. De\u0219i, CFT a fost recomandat tuturor familiilor, 117 indivizi din 113 familii (31,2%) au continuat cu testarea genetic\u0103. V\u00e2rstele medii ale subiec\u021bilor \u0219i rudelor de gradul I testate au fost de 46, respectiv 40 de ani (p&lt;0,0001). Dintre rudele de gradul I care au fost testa\u021bi CFT, 70% erau femei, iar cele 105\/117 (89,7%) erau asimptomatice. Timpul mediu p\u00e2n\u0103 la testarea \u00een cascad\u0103 a fost de 9 luni.<\/p>\n\n\n\n<p>Dintre cei 117 indivizi testa\u021bi, 42,7%, 36,7% \u0219i 20,6% au fost descenden\u021bi, fra\u021bi \u0219i, respectiv, p\u0103rin\u021bi ai subiec\u021bilor. \u00cen total, <strong>PV\/LPV familial a fost detectat la 53,0% (62\/117) dintre rudele de gradul I testate.<\/strong>Datele noastre sugereaz\u0103 c\u0103 CFT a fost efectuat\u0103 \u00een cea mai mare parte (104\/113, 91,4%) \u00een familii cu rezultate pozitive \u00een gene cu risc ridicat, de\u0219i acestea reprezint\u0103 doar 55,0% (104\/189) din familiile ini\u021biale cu PV\/LPV \u00een gene cu risc ridicat. <\/p>\n\n\n\n<p><strong><a href=\"https:\/\/genekor.com\/wp-content\/uploads\/2023\/12\/poster_esmo_2022.pdf\" target=\"_blank\" rel=\"noreferrer noopener\">Citi\u021bi posterul aici<\/a><\/strong><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Studiul echipei \u0219tiin\u021bifice Genekor privind\u201eTest\u0103rile genetice \u00een cascad\u0103 au fost f\u0103cute doar \u00een cazul a 31% din familiile ini\u021biale cu variante patogene \u00een genele cancerului mamar\u201d a fost prezentat la [&hellip;]<\/p>\n","protected":false},"author":4,"featured_media":5836,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[33],"tags":[],"class_list":["post-5835","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>Testarea genetic\u0103 \u00een cascad\u0103 au fost f\u0103cute doar \u00een cazul a 31% din familiile ini\u021biale cu variante patogene \u00een genele cancerului mamar - Genekor<\/title>\n<meta name=\"description\" content=\"Studiul echipei \u0219tiin\u021bifice 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