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.
over 1 year ago
Journal
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RET (Ret Proto-Oncogene) • SDHB (Succinate Dehydrogenase Complex Iron Sulfur Subunit B)
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.
3 years ago
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
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.