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      Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A.

      Nature

      Amino Acid Sequence, Thyroid Neoplasms, Receptor Protein-Tyrosine Kinases, Proto-Oncogenes, Proto-Oncogene Proteins c-ret, genetics, Proto-Oncogene Proteins, Protein-Tyrosine Kinases, Polymerase Chain Reaction, Pheochromocytoma, Mutation, Multiple Endocrine Neoplasia, Molecular Sequence Data, Humans, Heterozygote, Germ Cells, Drosophila Proteins, DNA, Single-Stranded, DNA, Neoplasm, DNA Mutational Analysis, Cysteine, Codon, Carcinoma, Base Sequence

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          Abstract

          Multiple endocrine neoplasia type 2A (MEN 2A) is a dominantly inherited cancer syndrome that affects tissues derived from neural ectoderm. It is characterized by medullary thyroid carcinoma (MTC) and phaeochromocytoma. The MEN2A gene has recently been localized by a combination of genetic and physical mapping techniques to a 480-kilobase region in chromosome 10q11.2 (refs 2,3). The DNA segment encompasses the RET proto-oncogene, a receptor tyrosine kinase gene expressed in MTC and phaeochromocytoma and at lower levels in normal human thyroid. This suggested RET as a candidate for the MEN2A gene. We have identified missense mutations of the RET proto-oncogene in 20 of 23 apparently distinct MEN 2A families, but not in 23 normal controls. Further, 19 of these 20 mutations affect the same conserved cysteine residue at the boundary of the RET extracellular and transmembrane domains.

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          Journal
          10.1038/363458a0
          8099202

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