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  • 1 Semmelweis Egyetem, Általános Orvostudományi Kar I. Szülészeti és Nőgyógyászati Klinika Budapest Baross u. 27. 1088
  • 2 NAGY GÉN Diagnosztikai és Kutatási Kft. Budapest
Open access

A familiáris halmozódást mutató emlőrákkal kapcsolatos genetikai tanácskérés a megfelelő centrumokban szerte Európában gyakran fordul elő. Az ismétlődési kockázat hatékony felmérése, becslése – különös tekintettel az egészségügy korlátozott anyagi forrásaira – mindenütt nagy kihívásnak számít. A közlemény irodalmi adatok alapján áttekinti és összefoglalja azokat az algoritmusokat, matematikai modelleket, amelyek a családi halmozódást mutató emlőrák kockázatkalkulációja kapcsán szóba jöhetnek; a Gail-modell, a Claus-modell, a BOADICEA-modell vizsgálatán túl elemzésre kerülnek azok a számítógépes szoftverrendszerek is (LINKAGE, MENDEL v3.3), amelyek az algoritmusok alkalmazását, informatikai interpretációját segítik. A módszerek közti összehasonlítás során azok előnyei és hátrányai egyaránt tárgyalásra kerülnek. A kockázatkalkuláció legmegbízhatóbb módjai az alapos családfaelemzésen túl alapvető információként veszik figyelembe a BRCA-mutációt hordozó állapotot mind a tanácskérő, mind családtagjai tekintetében. A BRCA-mutáció-analízis módszerei, csakúgy mint a mutációhordozó állapot előfordulásának sajátosságai, részletes áttekintésre kerülnek. Orv. Hetil., 2011, 152, 758–762.

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