Germ-line mutations of the RET proto-oncogene in multiple endocrine neoplasia type 2A
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Summary
This work has identified missense mutations of the RET proto-oncogene in 20 of 23 apparently distinct MEN 2A families, but not in 23 normal controls, and found that 19 of these 20 mutations affect the same conserved cysteine residue at the boundary of theRET extracellular and transmembrane domains.
- Type
- article
- Published
- 1993-06-03
- Cited by
- 1,913
- References
- 20
- OpenAlex
- https://openalex.org/W2044761914
- Semantic Scholar
- https://api.semanticscholar.org/CorpusID:4349714
Keywords
RET proto-oncogene, Multiple endocrine neoplasia type 2, Proto-Oncogene Proteins c-ret, Missense mutation, Multiple endocrine neoplasia
References
- Isolation of ret proto-oncogene cDNA with an amino-terminal signal sequence.
- Cloning and expression of the ret proto-oncogene encoding a tyrosine kinase with two potential transmembrane domains.
- Human ret proto-oncogene mapped to chromosome 10q11.2.
- Genetic linkage studies map the multiple endocrine neoplasia type 2 loci to a small interval on chromosome 10q11.2.
- Genetic events in tumour initiation and progression in multiple endocrine neoplasia type 2
- A point mutation in the extracellular domain of the human CSF-1 receptor (c-fms proto-oncogene product) activates its transforming potential.
- Reactivity of cytosine and thymine in single-base-pair mismatches with hydroxylamine and osmium tetroxide and its application to the study of mutations.
- A new polymorphism in the ret protooncogene (RET).
- Development of multiple endocrine neoplasia type 2A does not involve substantial deletions of chromosome 10.
- p53 mutations in colorectal cancer.
- A TaqI RFLP in the human ret proto-oncogene.
- A new oncogene in human thyroid papillary carcinomas and their lymph-nodal metastases
- Multiple independent activations of the neu oncogene by a point mutation altering the transmembrane domain of p185.
- Low incidence of loss of chromosome 10 in sporadic and hereditary human medullary thyroid carcinoma.
- Human trk oncogenes activated by point mutation, in-frame deletion, and duplication of the tyrosine kinase domain
- Localisation of the gene for multiple endocrine neoplasia type 2A to a 480 kb region in chromosome band 10q11.2.
- Genetic aspects of multiple endocrine neoplasia.
- cDNA cloning of mouse ret proto-oncogene and its sequence similarity to the cadherin superfamily.
- Tight linkage of the ret proto-oncogene with the multiple endocrine neoplasia type 2A locus.
- The ret proto-oncogene is consistently expressed in human pheochromocytomas and thyroid medullary carcinomas.
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- Pathogenetic aspects of Hirschsprung's disease
- Phenotypic diversity, allelic series and modifier genes
- Transgenic and gene disruption techniques in the study of neurocarcinogenesis
- Inherited breast cancer.
- Intestinal motility during ontogeny and intestinal pseudo-obstruction in children.
- Mechanism of ret dysfunction by Hirschsprung mutations affecting its extracellular domain.
- A serine/threonine kinase gene defective in Peutz–Jeghers syndrome
- Molecular diagnostics of cancer predisposition: hereditary non-polyposis colorectal carcinoma and mismatch repair defects.
- Unilateral Surgery Supported by Germline RET Oncogene Mutation Analysis in Patients with Sporadic Medullary Thyroid Carcinoma
- Estimation of risk of inherited medullary thyroid carcinoma in apparent sporadic patients.
- Ureteric bud outgrowth in response to RET activation is mediated by phosphatidylinositol 3-kinase.
- Activation of signal transducer and activator of transcription 3 by oncogenic RET/PTC (rearranged in transformation/papillary thyroid carcinoma) tyrosine kinase: roles in specific gene regulation and cellular transformation.
- Natural history, diagnosis, treatment and outcome of medullary thyroid cancer: 37 years experience on 157 patients.
- Significance of the RET proto-oncogene polymorphisms in Turkish sporadic medullary thyroid carcinoma patients
- Giant leaps forward.
- Analysis of pheochromocytomas / paragangliomas from Eastern Slovakia.
- Medullary thyroid cancer diagnosis: An appraisal
- Genetic mosaicism of a frameshift mutation in the RET gene in a family with Hirschsprung disease.
- Exome sequencing reveals mutant genes with low penetrance involved in MEN2A-associated tumorigenesis.
- C-Cell Neoplasia in Asymptomatic Carriers of RET Mutation in Extracellular Cysteine-Rich and Intracellular Tyrosine Kinase Domain.
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