Obraz kliniczny guzów chromochłonnych u nosicieli mutacji protoonkogenu RET — badanie jednoośrodkowe | Zendy

Agnieszka Kotecka-Blicharz | Zendy; Kornelia Hasse-Lazar | Zendy; Beata JureckaLubieniecka | Zendy; Małgorzata OczkoWojciechowska | Zendy; Agnieszka Pawlaczek | Zendy; Beata Bugajska | Zendy; Aleksandra Ledwoń | Zendy; Aleksandra Król | Zendy; Barbara Michalik | Zendy; Barbara Jarząb | Zendy

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Obraz kliniczny guzów chromochłonnych u nosicieli mutacji protoonkogenu RET — badanie jednoośrodkowe

Author(s) -

Agnieszka Kotecka-Blicharz,

Kornelia Hasse-Lazar,

Beata JureckaLubieniecka,

Małgorzata OczkoWojciechowska,

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.

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