Article
The rare intracellular RET mutation p.Ser891Ala in an apparently sporadic medullary thyroid carcinoma: a case report and review of the literature.
Arquivos brasileiros de endocrinologia e metabologia - 1 Nov 2012
Blom Carla Brauner, Ceolin Lucieli, Romitti Mirian, Siqueira Débora, Maia Ana Luiza
Abstract excerpt
Medullary thyroid carcinoma (MTC) is a malignant tumor originating from parafollicular C-cells and accounts for 4-10% of all thyroid carcinomas. MTC develops in either sporadic (75%) or hereditary form (25%). Mutations in the RET proto-oncogene are responsible for hereditary MTC and the rate of heritable disease among apparently sporadic MTC (sMTC) cases varies from 6 to 15%. RET genetic testing is now considered...
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