Current Genomics · 2011 · 52 citations · 52 references
MedicineGeneticsOncologyCancer GeneticsMolecular OncologyNeoplasiaEndocrine Tumor GeneticsEndocrine Tumor PrognosisNeuroendocrine TumorsOncogene AmplificationOncogene MutationsThyroid CancerGermline MutationsMolecular Genetic DiagnosisProto-oncogene MutationRet AlterationsRet Gene MutationsRet MutationsRet Proto-oncogene AlterationsRet Proto-oncogene Mutations
Medullary thyroid carcinoma (MTC) is a rare calcitonin producing neuroendocrine tumour that originates from the parafollicular C-cells of the thyroid gland. The RET proto-oncogene encodes the RET receptor tyrosine kinase, with consequently essential roles in cell survival, differentiation and proliferation. Somatic or germline mutations of the RET gene play an important role in this neoplasm in development of sporadic and familial forms, respectively. Genetic diagnosis has an important role in differentiating sporadic from familiar MTC. Furthermore, depending on the location of the mutation, patients can be classified into risk classes. Therefore, genetic screening of the RET gene plays a critical role not only in diagnosis but also in assessing the prognosis and course of MTC.
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Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
Lois M. Mulligan, John B. Kwok, Catherine S. Healey et al. · Nature · 1993 · 2K citations
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC
Helen Donis-Keller, Shenshen Dou, David Chi et al. · Human Molecular Genetics · 1993 · 1.3K citations