Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests
| Autor: | Jen-I Mao, Melissa K. Schuster, Nancy Nutile-McMenemy, L. H. Maurer, Walter W. Noll, Hong Yu, Donald W. Bowden, V. A. Memoli, Feiyu Xue |
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| Rok vydání: | 1994 |
| Předmět: |
endocrine system diseases
DNA Mutational Analysis Molecular Sequence Data Biology medicine.disease_cause Polymerase Chain Reaction Proto-Oncogene Mas Germline Germline mutation Proto-Oncogene Proteins Proto-Oncogenes Genetics medicine Drosophila Proteins Humans Point Mutation Cysteine Thyroid Neoplasms Multiple endocrine neoplasia Molecular Biology Genetics (clinical) Mutation Base Sequence Point mutation Genetic Carrier Screening Multiple Endocrine Neoplasia Proto-Oncogene Proteins c-ret Cancer Receptor Protein-Tyrosine Kinases General Medicine medicine.disease Medullary carcinoma Carcinoma Medullary Cancer research |
| Zdroj: | Human molecular genetics. 3(4) |
| ISSN: | 0964-6906 |
| Popis: | Multiple endocrine neoplasia type 2A (MEN 2A) and familial medullary thyroid carcinoma (FMTC) are two closely related cancer syndromes inherited in an autosomal dominant manner. Mutations in the RET proto-oncogene were found in MEN 2A and FMTC families. In this study we report seven different germline mutations in the RET proto-oncogene in five of five MEN 2A and five of six FMTC families. Each of the mutations involves a cysteine residue in the extracellular cysteine-rich domain of the RET receptor tyrosine kinase. We developed simple polymerase chain reaction based diagnostic tests for all seven mutations in these families. |
| Databáze: | OpenAIRE |
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