KEGG   VARIANT: 5979v2
Entry
5979v2                      Variant                                
Name
RET mutation
Type
Gain of function
Gene
RET  ret proto-oncogene [KO:K05126]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation M918T
ClinVar: 13919
dbSNP: rs74799832
COSM: 965
Variation
mutation C634F
ClinVar: 13911
dbSNP: rs75996173
COSM: 1237919
Variation
mutation A883F
ClinVar: 38629
dbSNP: rs377767429
COSM: 981
Variation
mutation V804M
ClinVar: 37102
dbSNP: rs79658334
COSM: 86004
Variation
mutation S891A
ClinVar: 13951
dbSNP: rs75234356
COSM: 9213759
Network
nt06210  ERK signaling (cancer)
nt06214  PI3K signaling (cancer)
nt06526  MAPK signaling
nt06530  PI3K signaling
Disease
H00032  Thyroid cancer
Drug target
Selpercatinib: D11713<JP/US>
Reference
PMID:25824727
  Authors
Yeganeh MZ, Sheikholeslami S, Hedayati M
  Title
RET proto oncogene mutation detection and medullary thyroid carcinoma prevention.
  Journal
Asian Pac J Cancer Prev 16:2107-17 (2015)
DOI:10.7314/apjcp.2015.16.6.2107
Reference
PMID:26868437
  Authors
Romei C, Ciampi R, Elisei R
  Title
A comprehensive overview of the role of the RET proto-oncogene in thyroid carcinoma.
  Journal
Nat Rev Endocrinol 12:192-202 (2016)
DOI:10.1038/nrendo.2016.11
Reference
PMID:28506408
  Authors
Accardo G, Conzo G, Esposito D, Gambardella C, Mazzella M, Castaldo F, Di Donna C, Polistena A, Avenia N, Colantuoni V, Giugliano D, Pasquali D
  Title
Genetics of medullary thyroid cancer: An overview.
  Journal
Int J Surg 41 Suppl 1:S2-S6 (2017)
DOI:10.1016/j.ijsu.2017.02.064
Reference
PMID:15982921
  Authors
Arighi E, Borrello MG, Sariola H
  Title
RET tyrosine kinase signaling in development and cancer.
  Journal
Cytokine Growth Factor Rev 16:441-67 (2005)
DOI:10.1016/j.cytogfr.2005.05.010
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