[The RET gene and medullary thyroid cancer: from mutations to the planning of therapy].
The RET gene codes for a tyrosine kinase receptor, expressed in neural crest derived cells playing a central role during embryogenesis. The RET proto-oncogene is responsible for medullary thyroid cancer and multiple endocrine neoplasia type 2. To date, more than 50 germline point mutations have been described. A specific correlation between genotype and phenotype is well recognized. Genetic testing is predictive of cancer onset, age at onset and biological aggressiveness. In recent years, the concept of codon-oriented prophylactic surgery has been introduced and three levels of risk have been identified on the basis of specific mutations. A review of the literature shows the excellent results of laboratory, genetic and clinical research that have made it possible to reduce medullary thyroid cancer-related mortality.
Conzo
Giovanni
G
IV Divisione di Chirurgia Generale e di Endocrinochirurgia, Seconda Università degli Studi di Napoli.
Ruggiero
Roberto
R
Palazzo
Antonietta
A
Della Pietra
Cristina
C
Stanzione
Francesco
F
Livrea
Antonio
A
Docimo
Giovanni
G
D018276:Carcinoma, Medullary / Q000235:genetics / Q000601:surgery*; D006801:Humans; D009154:Mutation; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000235:genetics / Q000601:surgery*
C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D051096:Proto-Oncogene Proteins c-ret; C099282:RET protein, human