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|Protein Effect||gain of function - predicted|
|Gene Variant Descriptions||RET Y806C lies within the protein kinase domain of the Ret protein (UniProt.org). Y806C is predicted to lead to a gain of Ret protein function as indicated by transformation of cultured cells in one study (PMID: 10679286), and has also been demonstrated to occur as a secondary resistance mutation in conjunction with other RET mutations (PMID: 19029224).|
|Associated Drug Resistance||Y|
|Transcript||gDNA||cDNA||Protein||Source Database||Genome Build|
|Molecular Profile||Protein Effect||Treatment Approaches|
|RET Y806C||gain of function - predicted|
|RET C634R RET Y806C|
|RET V804M RET Y806C|
|Molecular Profile||Indication/Tumor Type||Response Type||Therapy Name||Approval Status||Evidence Type||Efficacy Evidence||References|
|RET Y806C||Advanced Solid Tumor||sensitive||Ponatinib||Preclinical||Actionable||In a preclinical study, Iclusig (ponatinib) inhibited phosphorylation of Ret in transformed human cells expressing RET Y806C in culture (PMID: 23526464).||23526464|
|RET C634R RET Y806C||Advanced Solid Tumor||resistant||Vandetanib||Preclinical - Cell culture||Actionable||In a preclinical study, transformed human cells co-expressing RET C634R and RET Y806C were resistant to treatment with Caprelsa (vandetanib) in culture (PMID: 19029224).||19029224|
|RET V804M RET Y806C||thyroid gland medullary carcinoma||not applicable||N/A||Guideline||Risk Factor||Compound germline RET V840M and Y806C mutations result in multiple endocrine neoplasia, type 2B (MEN 2B), which is associated with high risk of developing thyroid medullary carcinoma (NCCN.org).||detail...|