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BIOMARKER:

RET C634Y

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Other names: RET, Ret Proto-Oncogene, Proto-Oncogene Tyrosine-Protein Kinase Receptor Ret, Cadherin-Related Family Member 16, Rearranged During Transfection, RET Receptor Tyrosine Kinase, Cadherin Family Member 12, Proto-Oncogene C-Ret, CDHF12, CDHR16, PTC, Ret Proto-Oncogene (Multiple Endocrine Neoplasia And Medullary Thyroid Carcinoma 1, Hirschsprung Disease), Multiple Endocrine Neoplasia And Medullary Thyroid Carcinoma 1, Hirschsprung Disease 1, RET-ELE1, HSCR1, MEN2A, MEN2B, RET51, MTC1
Entrez ID:
over1year
Novel and recurrent genetic variants of VHL, SDHB, and RET genes in Chinese pheochromocytoma and paraganglioma patients. (PubMed, Front Genet)
The ClinVar accession number for the present variants are SCV002028348, and SCV002028352 to SCV002028361. Genetic variants in VHL, SDHB and RET were identified in Chinese PPGL patients, which contributed to the knowledge of the genetic etiology and clinical outcome of these tumors.
Journal
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RET (Ret Proto-Oncogene) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B)
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RET C634Y • RET C634*
3years
RET Proto-Oncogene Mutational Analysis in 45 Iranian Patients Affected with Medullary Thyroid Carcinoma: Report of a New Variant. (PubMed, J Thyroid Res)
RET mutation detection is a promising/golden screening test and provides an accurate presymptomatic diagnostic test for at-risk carriers (the siblings and offspring of the patients) to consider prophylactic thyroidectomy. Thus, according to the ATA recommendations, the screening of the RET proto-oncogene is indicated for patients with MTC.
Clinical • Journal
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RET (Ret Proto-Oncogene)
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RET mutation • RET M918T • RET C634R • RET C634Y • RET C618R • RET C634* • RET C634F • RET positive
4years
The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A. (PubMed, J Cell Mol Med)
In conclusion, the V292M RET variant could be classified as 'likely benign' according to ACMG (2015). The compound variant V292M/C634Y was associated with both more aggressive clinical phenotype and faster cell growth in vitro than was either single mutation.
Journal
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RET (Ret Proto-Oncogene)
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RET mutation • RET C634Y