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Disease-modifying polymorphisms and C609Y mutation of RET associated with high penetrance of phaeochromocytoma and low rate of MTC in MEN2A

Mutations of the rearranged during transfection (RET) proto-oncogene, located on chromosome 10q11.2, cause multiple endocrine neoplasia type 2A (MEN2A). Patients with mutations at the codon 609 usually exhibit a high penetrance of medullary thyroid cancer (MTC), but a sufficiently low penetrance of...

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Detalles Bibliográficos
Autores principales:	Speak, Rowena, Cook, Jackie, Harrison, Barney, Newell-Price, John
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Bioscientifica Ltd 2016
Materias:	Unique/Unexpected Symptoms or Presentations of a Disease
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5148796/ https://www.ncbi.nlm.nih.gov/pubmed/27994876 http://dx.doi.org/10.1530/EDM-16-0093

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