ArticleOncogene2006
Evaluation of potential mechanisms underlying genotype-phenotype correlations in multiple endocrine neoplasia type 2.
Article in Oncogene, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 41 citations in OpenAlex.
- The RET E616Q Variant is a Gain of Function Mutation Present in a Family with Features of Multiple Endocrine Neoplasia 2A.Endocrine pathology · 2017Article
- Differences in the transcriptome of medullary thyroid cancer regarding the status and type of RET gene mutations.Scientific reports · 2017Article
- MiR-182 promotes cancer invasion by linking RET oncogene activated NF-κB to loss of the HES1/Notch1 regulatory circuit.Molecular cancer · 2017Article
- Medullary Thyroid Carcinoma: Recent Advances Including MicroRNA Expression.Endocrine pathology · 2016Review
- RET revisited: expanding the oncogenic portfolio.Nature reviews. Cancer · 2014Review
- RelB inhibits cell proliferation and tumor growth through p53 transcriptional activation.Oncogene · 2013Article
- Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene.Pediatric surgery international · 2012Article
- Evaluation of systemic targeting of RET oncogene-based MTC with tumor-selective peptide-tagged Ad vectors in clinical mouse models.Gene therapy · 2011Article
- Rap1GAP interacts with RET and suppresses GDNF-induced neurite outgrowth.Cell research · 2011Article
- RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest.Endocrine · 2009Article
- High resolution array-comparative genomic hybridization profiling reveals deoxyribonucleic acid copy number alterations associated with medullary thyroid carcinoma.The Journal of clinical endocrinology and metabolism · 2008Article
- Review.Gastroenterology & hepatology · 2007Article
- RET signaling in endocrine tumors: delving deeper into molecular mechanisms.Endocrine pathology · 2007Review
- RET and neuroendocrine tumors.Pituitary · 2006Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Distinct dominant activating mutations in the RET proto-oncogene are responsible for the development of multiple endocrine neoplasia type 2 (MEN 2). Concise examination of the mutated codons led to the detection of a striking genotype-phenotype correlation between the mutated codon and the MEN 2 phenotype in terms of onset and aggressiveness of the disease, suggesting that manifestation and clinical progression is conditioned by the type of mutation. To gain insight into the molecular basis for this genotype-phenotype correlation, we analysed the impact of common and rare mutations identified in MEN 2A (C609Y, C634R), MEN 2B (A883F, M918T) and familial medullary thyroid carcinoma (Y791F) patients on several aspects of cell transformation, including proliferation, apoptosis, anchorage-independent growth and signaling. We found that tumor cells arising from distinct extracellular or intracellular MEN 2 mutations clearly differ in their proliferation properties owing to the activation of different molecular pathways, but importantly, also in resistance to apoptosis. Whereas MEN 2A mutants resulted in accelerated cell proliferation, MEN 2B-RET mutants significantly enhanced suppression of apoptosis, which may account, at least partially, for some of the clinical differences in MEN 2 patients.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.