Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma.
Medullary thyroid carcinoma (MTC) may occur sporadically or as part of the autosomal dominant multiple endocrine neoplasia type 2 (MEN 2). Three hereditary forms of MEN 2 have been identified: MEN 2A, MEN 2B, and familial MTC (FMTC). Missense germ-line mutations in the RET proto-oncogene have been identified as cause of these endocrine diseases. Mutations are found in exons 10 and 11 in MEN 2A and FMTC families and in a small number of families in exons 13, 14, and 15. Although a strong correlation between codon mutations and phenotypes has been described, not all the expected cystein codon mutations have been found. Therefore, the more mutations are found, the better it is possible to establish phenotype-genotype correlations. We report on a novel RET mutation at codon 611 in a family with MTC without other clinical manifestations and of rather benign course.
Department of Hormonology, Hospital Clínic i Provincial, Barcelona, Spain. labhor@medicina.ub.es
J
J
Oriola
C
C
Páramo
I
I
Halperin
R V
RV
García-Mayor
F
F
Rivera-Fillat
D018276:Carcinoma, Medullary / Q000175:diagnosis / Q000235:genetics*; D003545:Cysteine / Q000235:genetics; D017931:DNA Primers; D029721:Drosophila Proteins; D005091:Exons / Q000235:genetics; D005260:Female; D005799:Genes, Dominant; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D008297:Male; D009377:Multiple Endocrine Neoplasia / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D051096:Proto-Oncogene Proteins c-ret; D011519:Proto-Oncogenes / Q000235:genetics*; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics*; D013964:Thyroid Neoplasms / Q000175:diagnosis / Q000235:genetics*
D017931:DNA Primers; D029721:Drosophila Proteins; C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D011518:Proto-Oncogene Proteins; D051096:Proto-Oncogene Proteins c-ret; D020794:Receptor Protein-Tyrosine Kinases; C416649:Ret protein, Drosophila; D003545:Cysteine