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Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours
Abstract
The susceptibility loci for the three multiple endocrine neoplasia (MEN) type 2 syndromes have been mapped to the region of chromosome 10q11.2 containing the RET proto-oncogene, which codes for a receptor tyrosine kinase. The majority of MEN 2A and familial medullary thyroid carcinoma results from missense mutations within one of five cysteine codons in the extracellular domain of the RET proto-oncogene. We now report a missense mutation, resulting in the substitution of a threonine for a methionine at codon 918 in the tyrosine kinase catalytic domain, in the germline of 26 of 28 apparently distinct families with MEN 2B. DNA from five of 13 apparently sporadic MTC and one of 12 apparently sporadic phaeochromocytomas harboured a similar mutation, but the corresponding germline DNA was wildtype in each case.
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Cited by
Germ-Line Mutations in Nonsyndromic Pheochromocytoma
Neumann, H. P. H., Bausch, B., McWhinney, S. R., Bender, B. U., Gimm, O., Franke, G., Schipper, J., Klisch, J., Altehoefer, C., Zerres, K., et al. (2002) · New England Journal of Medicine · doi:10.1056/nejmoa020152 · Cited by 1,367
Self-citationMedullary Thyroid Cancer: Management Guidelines of the American Thyroid Association
Kloos (Chair), R. T., Eng, C., Evans, D. B., Francis, G. L., Gagel, R. F., Gharib, H., Moley, J. F., Pacini, F., Ringel, M. D., Schlumberger, M., et al. (2009) · Thyroid · doi:10.1089/thy.2008.0403 · Cited by 1,357
Self-citationHirschsprung disease, associated syndromes and genetics: a review
Amiel, J., Sproat-Emison, E., Garcia-Barcelo, M., Lantieri, F., Burzynski, G., Borrego, S., Pelet, A., Arnold, S., Miao, X., Griseri, P., et al. (2008) · Journal of Medical Genetics · doi:10.1136/jmg.2007.053959 · Cited by 1,206
Elisei, R., Cosci, B., Romei, C., Bottici, V., Renzini, G., Molinaro, E., Agate, L., Vivaldi, A., Faviana, P., Basolo, F., et al. (2008) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2007-1714 · Cited by 531
RET tyrosine kinase signaling in development and cancer
Arighi, E., Borrello, M. G., & Sariola, H. (2005) · Cytokine & Growth Factor Reviews · doi:10.1016/j.cytogfr.2005.05.010 · Cited by 468
Metadata
- Authors
- Eng, C., SmIth, D. P., MullIgan, L. M., Nagal, M. A., Healey, C. S., Ponder, M. A., Gardner, E., Scheumann, G. F. W., Jackson, C. E., Tunnacllffe, A., & Ponder, B. A. J.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 1994
- Volume
- 3
- Issue
- 2
- Pages
- 237-241
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2041065101
- Cited by
- 537
- References
- 0
- FWCI
- 36.52
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. https://app.cochat.ai/papers/10.1093/hmg/3.2.237
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- Eng, C., SmIth, D. P., MullIgan, L. M., Nagal, M. A., Healey, C. S., Ponder, M. A., Gardner, E., Scheumann, G. F. W., Jackson, C. E., Tunnacllffe, A., & Ponder, B. A. J. (1994). Point mutation within the tyrosine kinase domain of the RET proto-oncogene in multiple endocrine neoplasia type 2B and related sporadic tumours. Human Molecular Genetics. https://doi.org/10.1093/hmg/3.2.237
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