Article
Novel point mutation in exon 10 of the RET proto-oncogene in a family with medullary thyroid carcinoma.
American journal of medical genetics - 7 Jul 1998
Oriola J, Páramo C, Halperin I, García-Mayor R V, Rivera-Fillat F
Abstract excerpt
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 bee...
Topics
- Carcinoma, Medullary
- Cysteine
- DNA Primers
- Drosophila Proteins
- Exons
- Female
- Genes, Dominant
- Genetic Testing
- Genotype
- Humans
- Male
- Multiple Endocrine Neoplasia
- Pedigree
- Phenotype
- Point Mutation
- Polymerase Chain Reaction
- Polymorphism, Single-Stranded Conformational
- Proto-Oncogene Mas
