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  • 1 Barts and the London NHS Foundation Trust Academic Surgical Department London
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A molekuláris biológia fejlődésével több olyan kórkép felismerésre került (p53-mutáció és emlődaganat, Ret protoonkogén pontmutációja és pajzsmirigy medullaris carcinoma), amely potenciálisan daganat kialakulásához vezethet. Az utóbbi évek molekuláris genetikai kutatása vezetett a familiáris halmozódást mutató autoszomális, dominánsan öröklődő, inkomplett penetrációval bíró herediter diffúz gyomorrák szindróma felismeréséhez. A kórképben a kalciumfüggő, celluláris adhézióban alapvető szerepet játszó E-cadherin kódolását szabályozó CDH1 gén csírasejtes mutációt szenved, s következményesen nagy penetrációjú diffúz gyomoradenocarcinoma alakulhat ki. Igazolt esetben profilaktikus gastrectomia elvégzése javasolt fiatal korban. Orv. Hetil., 2011, 152, 1105–1109.

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