{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,13]],"date-time":"2023-09-13T20:17:25Z","timestamp":1694636245059},"reference-count":30,"publisher":"Akademiai Kiado Zrt.","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["MaSeb"],"published-print":{"date-parts":[[2009,4,1]]},"abstract":"Absztrakt<\/jats:title>Bevezet\u00e9s:<\/jats:italic>A Hereditaer Nonpolyposis Colorectalis Carcinoma (HNPCC) a leggyakrabban el\u0151fordul\u00f3, vastagb\u00e9ldaganatok kialakul\u00e1s\u00e1ra hajlamos\u00edt\u00f3 \u00f6r\u00f6kl\u0151d\u0151 megbeteged\u00e9s. Az \u00f6sszes vastagb\u00e9ldaganat mintegy 3\u20135%-\u00e1\u00e9rt felel\u0151s. El\u0151fordul\u00e1s\u00e1val kapcsolatos magyarorsz\u00e1gi adatok m\u00e9g nem \u00e1llnak rendelkez\u00e9sre.Betegek \u00e9s m\u00f3dszer:<\/jats:italic>1997\u20132006 k\u00f6z\u00f6tt 809 vastag-b\u00e9ldaganatban szenved\u0151 beteg csal\u00e1di anamnaesis\u00e9t m\u00e9rt\u00fck fel. Els\u0151 vizsg\u00e1lati szakban retrospekt\u00edv, a m\u00e1sodik szakban prospekt\u00edv adatszerz\u00e9st alkalmaztunk. Ezt k\u00f6vet\u0151en immunhisztok\u00e9miai \u00e9s mikroszatellita-instabilit\u00e1si vizsg\u00e1latokat v\u00e9gezt\u00fcnk, majd DNS-szekven\u00e1l\u00e1s \u00e9s multiplex ligatio dependens pr\u00f3ba amplifik\u00e1ci\u00f3s m\u00f3dszer seg\u00edts\u00e9g\u00e9vel kerest\u00fck a betegs\u00e9g h\u00e1tter\u00e9ben \u00e1ll\u00f3 MMR g\u00e9nek mut\u00e1ci\u00f3it \u00e9s a nagy deleti\u00f3kat.Eredm\u00e9nyek:<\/jats:italic>Vizsg\u00e1lataink sor\u00e1n 10 patog\u00e9n mut\u00e1ci\u00f3t \u00e9s sz\u00e1mos polimorfizmust tal\u00e1ltunk. H\u00e9t mut\u00e1ci\u00f3t az Amszterdam Krit\u00e9riumokat egy\u00e9rtelm\u0171en teljes\u00edt\u0151 csal\u00e1dok k\u00f6z\u00f6tt, h\u00e1rmat pedig a Bethesda Krit\u00e9riumokat teljes\u00edt\u0151 csal\u00e1dok eset\u00e9n siker\u00fclt igazolnunk. A val\u00f3s popul\u00e1ci\u00f3s adatokat reprezent\u00e1l\u00f3 m\u00e1sodik vizsg\u00e1lati szakban a betegeink 6%-a egy\u00e9rtelm\u0171en teljes\u00edtette az Amszterdam Krit\u00e9riumokat, \u00e9s a betegek 1,7%-\u00e1ban tudtuk igazolni valamelyik MMR g\u00e9n patog\u00e9n mut\u00e1ci\u00f3j\u00e1t.\u00d6sszefoglal\u00e1s:<\/jats:italic>T\u00edz igazolt patog\u00e9n mut\u00e1ci\u00f3 k\u00f6z\u00fcl nyolcat munkacsoportunk k\u00f6z\u00f6lt els\u0151k\u00e9nt. Nem tudtunk igazolni ism\u00e9tl\u0151d\u0151en el\u0151fordul\u00f3 mut\u00e1ci\u00f3kat. A mut\u00e1ci\u00f3k elsz\u00f3rtan helyezkednek el a k\u00fcl\u00f6nb\u00f6z\u0151 MMR g\u00e9nek k\u00fcl\u00f6nb\u00f6z\u0151 exonjain. A teljes vizsg\u00e1lati soron \u00e1tesett Amszterdam-pozit\u00edv csal\u00e1djaink 77%-\u00e1ban tudtunk mut\u00e1ci\u00f3t igazolni, mely megel\u0151zi a nemzetk\u00f6zi adatokat. A patog\u00e9n mut\u00e1ci\u00f3t hordoz\u00f3 csal\u00e1dok 30%-a nem ker\u00fclt volna felismer\u00e9sre az Amszterdam Krit\u00e9riumok egyed\u00fcli alkalmaz\u00e1s\u00e1val. Az Amszterdam \u00e9s Bethesda Krit\u00e9riumok egyidej\u0171 alkalmaz\u00e1sa sz\u00fcks\u00e9ges ahhoz, hogy lehet\u0151leg minden mut\u00e1ci\u00f3hordoz\u00f3 csal\u00e1dot felismerj\u00fcnk.<\/jats:p>","DOI":"10.1556\/maseb.62.2009.2.7","type":"journal-article","created":{"date-parts":[[2009,4,23]],"date-time":"2009-04-23T01:12:51Z","timestamp":1240449171000},"page":"87-94","source":"Crossref","is-referenced-by-count":0,"title":["Hereditaer Nonpolyposis Colorectalis Carcinoma el\u0151fordul\u00e1s\u00e1val szerzett tapasztalatainkr"],"prefix":"10.1556","volume":"62","author":[{"given":"Mikl\u00f3s","family":"Tanyi","sequence":"first","affiliation":[{"name":"1 Seb\u00e9szeti Int\u00e9zet, Debreceni Egyetem, Orvos- \u00e9s Eg\u00e9szs\u00e9gtudom\u00e1nyi Centrum, 4012, Debrecen, Nagyerdei krt. 98., Pf. 27"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"425","reference":[{"key":"1","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1007\/BF02235175","article-title":"A Century of Progress in Hereditary Nonpolyposis Colorectal Cancer (Lynch Syndrome)","volume":"42","author":"Thorson AG","year":"1999","journal-title":"Dis Colon Rectum"},{"key":"2","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1046\/j.1365-2036.2001.00935.x","article-title":"Review article: a molecular rationale for the how, when and why of colorectal cancer screening","volume":"15","author":"Suoza RF","year":"2001","journal-title":"Aliment Pharmacol Ther"},{"key":"3","first-page":"201","article-title":"Colorectalis Carcinoma. 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