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Somatic
Background Germline mutations in RET are responsible for multiple endocrine neoplasia type 2 (MEN2), an autosomal dominantly inherited cancer syndrome that is characterized by medullary thyroid carcinoma (MTC), pheochromocytoma, and parathyroid ...
Pacak Karel +8 more
doaj +7 more sources
Novel targeted therapeutics for MEN2 [PDF]
The rearranged during transfection ( RET ) proto-oncogene was recognized as the multiple endocrine neoplasia type 2 (MEN2) causing gene in 1993. Since then, much effort has been put into a clear understanding of its oncogenic signaling, its biochemical function and ways to block its aberrant ...
Redaelli, Sara +2 more
openaire +3 more sources
Functional analysis of RET in MEN2 [PDF]
De erfelijke kankersyndromen Multipele Endocrine Neoplasieën (MEN2A en 2B) en het verwante syndroom familiaire medullaire schildklierkanker (FMTC; de ziekte van Hirschsprung), worden veroorzaakt door mutaties in het RET-gen. Het promotieonderzoek van Ivan Plaza Menacho was erop gericht de mutante RET eiwitten, zoals die voorkomen bij patiënten met MEN2/
Plaza-Menacho, Ivan
core +24 more sources
Impact of gastrointestinal symptoms on quality of life in MEN2 [PDF]
AbstractContextBesides medullary thyroid carcinoma and other endocrinopathies, people with Multiple Endocrine Neoplasia Type 2 (MEN2) are at risk of gastrointestinal (GI) symptoms.ObjectiveTo investigate the impact of GI symptoms on the daily lives of patients with MEN2.DesignAn online survey was conducted among patients with MEN2 via the Association ...
Mariia Goncharova +2 more
openaire +4 more sources
Multiple Endocrine Neoplasia type 2 (MEN2) is a genetic cancer syndrome for which there are limited data pertaining to the quality of life and psychosocial experiences of persons affected.
Robin Lockridge +6 more
doaj +2 more sources
Multiple endocrine neoplasia type 2 (MEN2) [PDF]
Review on Multiple endocrine neoplasia type 2 (MEN2), with data on clinics, and the genes involved.
Giraud, S
openaire +3 more sources
The penetrance of MEN2 pheochromocytoma is not only determined by RET mutations [PDF]
Multiple endocrine neoplasia type 2 (MEN2) is a rare syndrome subdivided into 2 main entities: MEN2A and MEN2B (Donis-Keller et al. 1993, Mulligan et al. 1993, Eng et al. 1996). Genetic results can predict the natural history of medullary thyroid carcinoma (MTC) depending on the mutation of RET.
Castinetti, Frederic +35 more
core +16 more sources
Role of RET genetic variants in MEN2-associated pheochromocytoma [PDF]
Background: RET polymorphisms have been involved in the clinical presentation and prognosis of multiple endocrine neoplasia type 2 (MEN2)-associated medullary thyroid carcinoma.ObjectiveTo investigate the effect of RET variants on the penetrance of pheochromocytoma (PHEO) in MEN2 patients.
Siqueira, Débora Rodrigues +6 more
openaire +4 more sources
Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study [PDF]
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET gene germline mutations that is characterized by medullary thyroid carcinoma (MTC) associated with other endocrine tumors. Several reports have demonstrated
Rui M B Maciel +45 more
doaj +7 more sources
MEN2: surgical precision in the era of precision medicine. [PDF]
Graphical abstract Abstract Medullary thyroid cancer, phaeochromocytoma and primary hyperparathyroidism in patients with multiple endocrine neoplasia type 2 can all be cured by surgery on the condition that they are detected early ...
Kurzawinski TR, Butler CR, Aziz TA.
europepmc +6 more sources

