Open AccessObraz kliniczny guzów chromochłonnych u nosicieli mutacji protoonkogenu RET — badanie jednoośrodkowe
Author(s) -
Agnieszka Kotecka-Blicharz,
Kornelia Hasse-Lazar,
Beata JureckaLubieniecka,
Małgorzata Oczko-Wojciechowska,
Agnieszka Pawlaczek,
Beata Bugajska,
Aleksandra Ledwoń,
Aleksandra Król,
Barbara Michalik,
Barbara Jarząb
Publication year - 2016
Publication title -
endokrynologia polska
Language(s) - Uncategorized
Resource type - Journals
SCImago Journal Rank - 0.413
H-Index - 27
eISSN - 2299-8306
pISSN - 0423-104X
DOI - 10.5603/ep.2016.0008
Subject(s) - ret proto oncogene , medicine , pheochromocytoma , metanephrines , germline mutation , penetrance , multiple endocrine neoplasia type 2 , pathology , population , cohort , germline , mutation , gastroenterology , biology , genetics , gene , environmental health , phenotype
Multiple endocrine neoplasia type 2 (MEN 2) is an autosomal dominant genetic syndrome caused by germline mutation in RET proto-oncogene. The most common mutations are in a cysteine rich domain. Phaeochromocytoma will develop in approximately 50% of RET proto-oncogene carriers.