نتایج جستجو برای: men2a

تعداد نتایج: 147  

Journal: :Journal of the National Cancer Institute 2004
Giuditta Cuccuru Cinzia Lanzi Giuliana Cassinelli Graziella Pratesi Monica Tortoreto Giovanna Petrangolini Ettore Seregni Antonia Martinetti Diletta Laccabue Chiara Zanchi Franco Zunino

BACKGROUND The RET proto-oncogene encodes a receptor tyrosine kinase. RET oncogenes arise through sporadic and inherited gene mutations and are involved in the etiopathogenesis of medullary thyroid carcinoma, a cancer that responds poorly to conventional chemotherapy. Medullary thyroid carcinoma is a component of multiple endocrine neoplasia type 2 or MEN2 syndromes. METHODS We investigated t...

2015
Jarosław Koza

The main issue Neuroendocrine tumours can be associated with genetic syndromes [1] and this fact should influence the medical procedures. In my work as a physician I met several patients with cancer in familiar history (e.g. colon cancer in the mother and grandmother) and despite the recommendations they avoid screening for the disease. In this year I was dealing with an adult male patient suff...

2012
Nikoletta Lendvai Miklos Tóth Zsuzsanna Valkusz Gabriella Bekő Nikolette Szücs Éva Csajbók Péter Igaz Balázs Kriszt Balázs Kovács Károly Rácz Attila Patócs

OBJECTIVE To evaluate whether germline variants of the succinate dehydrogenase genes might be phenotypic modifiers in patients with multiple endocrine neoplasia type 2. Mutations of genes encoding subunits of the succinate dehydrogenase are associated with hereditary paraganglioma/pheochromocytoma syndrome. Pheochromocytoma is one of the main manifestations of multiple endocrine neoplasia type ...

Journal: :Endocrinologia y nutricion : organo de la Sociedad Espanola de Endocrinologia y Nutricion 2011
Paula Sánchez Sobrino Concepción Páramo Fernández Pedro Gil Gil Beatriz Mantiñán Gil Alberto Pérez Pedrosa Regina Palmeiro Carballeira Ricardo V García-Mayor

BACKGROUND AND OBJECTIVES Genetic testing of RET proto-oncogen allows an early diagnosis of Multiple Endocrine Neoplasia syndrome type 2 and establish a correlation between genotype and clinical manifestations. The purpose of this study was to demonstrate the benefits of an early diagnosis with genetic testing followed by prompt surgery on the cure of MTC versus a later diagnosis with serum cal...

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