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Activation of RET as a Dominant Transforming Gene by Germline Mutations of MEN2A and MEN2B
Abstract
Multiple endocrine neoplasia types 2A and 2B (MEN2A and MEN2B) and familial medullary thyroid carcinoma are dominantly inherited cancer syndromes. All three syndromes are associated with mutations in RET , which encodes a receptor-like tyrosine kinase. The altered RET alleles were shown to be transforming genes in NIH 3T3 cells as a consequence of constitutive activation of the RET kinase. The MEN2A mutation resulted in RET dimerization at steady state, whereas the MEN2B mutation altered RET catalytic properties both quantitatively and qualitatively. Oncogenic conversion of RET in these neoplastic syndromes establishes germline transmission of dominant transforming genes in human cancer.
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Citations
Cited by
Blume-Jensen, P., & Hunter, T. (2001) · Nature · doi:10.1038/35077225 · Cited by 3,738
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Dahia, P. L. M. (2014) · Nature Reviews Cancer · doi:10.1038/nrc3648 · Cited by 545
The RET Proto-Oncogene in Multiple Endocrine Neoplasia Type 2 and Hirschsprung's Disease
Eng, C. (1996) · New England Journal of Medicine · doi:10.1056/nejm199609263351307 · Cited by 328
Leboulleux, S., Baudin, E., Travagli, J., & Schlumberger, M. (2004) · Clinical Endocrinology · doi:10.1111/j.1365-2265.2004.02037.x · Cited by 281
Metadata
- Authors
- Santoro, M., Carlomagno, F., Romano, A., Bottaro, D. P., Dathan, N. A., Grieco, M., Fusco, A., Vecchio, G., Matoskova, B., Kraus, M. H., & Di Fiore, P. P.
- Venue
- Science
- Published
- 1995-01-20
- Volume
- 267
- Issue
- 5196
- Pages
- 381-383
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2128805986
- Cited by
- 841
- References
- 0
- FWCI
- 41.39
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Activation of RET as a Dominant Transforming Gene by Germline Mutations of MEN2A and MEN2B. https://app.cochat.ai/papers/10.1126/science.7824936
- The paper
- Santoro, M., Carlomagno, F., Romano, A., Bottaro, D. P., Dathan, N. A., Grieco, M., Fusco, A., Vecchio, G., Matoskova, B., Kraus, M. H., & Di Fiore, P. P. (1995). Activation of RET as a Dominant Transforming Gene by Germline Mutations of MEN2A and MEN2B. Science. https://doi.org/10.1126/science.7824936
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
