RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377767427
rs377767427
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C1833921
Disease:
Familial medullary thyroid carcinoma
0.010 GeneticVariation BEFREE We also identified a vandetanib-resistant RET(L881V) mutation previously found in familial medullary thyroid carcinoma. 31118272 2019
dbSNP: rs79781594
rs79781594
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0345245
Disease:
Hyperganglionosis
0.010 GeneticVariation BEFREE Mice conditionally expressing RET(C618F) mutation display C cell hyperplasia and hyperganglionosis of the enteric nervous system. 30884088 2019
dbSNP: rs145633958
rs145633958
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0238462
Disease:
Medullary carcinoma of thyroid
0.010 GeneticVariation BEFREE To our knowledge, these are the first time two cases of MTC associated to RET p.L56M variant. 30072953 2018
dbSNP: rs267607011
rs267607011
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE The resistant tumor acquired a secondary mutation resulting in a serine-to-phenylalanine substitution at codon 904 in the activation loop of the RET kinase domain. 29434222 2018
dbSNP: rs371731991
rs371731991
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C1269955
Disease:
Tumor Cell Invasion
0.010 GeneticVariation BEFREE Experiments involving ectopic expression of MET p.Arg417Gln in MET-negative T47D breast cancer cells documented the mutant receptor's functionality and its ability to enhance cell migration and invasion. 29219214 2018
dbSNP: rs377767397
rs377767397
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0342190
Disease:
C-cell hyperplasia of thyroid
0.010 GeneticVariation BEFREE The age-related progression of MTC across histopathological groups (normal thyroid/C-cell hyperplasia; node-negative MTC; node-positive MTC) was statistically significant for 13 unique RET mutations (p.Cys611Phe/c.1832G > T; p.Cys611Tyr; p.Cys618Ser/c.1852T > A; p.Cys620Arg; p.Cys634Arg; p.Cys634Phe; p.Cys634Ser; p.Cys634Tyr; p.Glu768Asp; p.Leu790Phe/c.2370G > T; p.Val804Met; p.Ser891Ala; p.Met918Thr), whereas two unique RET mutations (p.Cys618Phe; p.Cys634Gly) trended toward statistical significance. 29656518 2018
dbSNP: rs377767397
rs377767397
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0268397
Disease:
Amyloidosis, Primary Cutaneous
0.010 GeneticVariation BEFREE The RET C611Y mutation causes MEN 2A and associated cutaneous lichen amyloidosis. 30049837 2018
dbSNP: rs377767398
rs377767398
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0268397
Disease:
Amyloidosis, Primary Cutaneous
0.010 GeneticVariation BEFREE The RET C611Y mutation causes MEN 2A and associated cutaneous lichen amyloidosis. 30049837 2018
dbSNP: rs377767398
rs377767398
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0342190
Disease:
C-cell hyperplasia of thyroid
0.010 GeneticVariation BEFREE The age-related progression of MTC across histopathological groups (normal thyroid/C-cell hyperplasia; node-negative MTC; node-positive MTC) was statistically significant for 13 unique RET mutations (p.Cys611Phe/c.1832G > T; p.Cys611Tyr; p.Cys618Ser/c.1852T > A; p.Cys620Arg; p.Cys634Arg; p.Cys634Phe; p.Cys634Ser; p.Cys634Tyr; p.Glu768Asp; p.Leu790Phe/c.2370G > T; p.Val804Met; p.Ser891Ala; p.Met918Thr), whereas two unique RET mutations (p.Cys618Phe; p.Cys634Gly) trended toward statistical significance. 29656518 2018
dbSNP: rs74799832
rs74799832
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE LOXO-292 demonstrated potent and selective anti-RET activity preclinically against human cancer cell lines harboring endogenous RET gene alterations; cells engineered to express a KIF5B-RET fusion protein -/+ the RET V804M gatekeeper resistance mutation or the common RET activating mutation M918T; and RET-altered human cancer cell line and patient-derived xenografts, including a patient-derived RET fusion-positive xenograft injected orthotopically into the brain. 29912274 2018
dbSNP: rs74799832
rs74799832
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0342190
Disease:
C-cell hyperplasia of thyroid
0.010 GeneticVariation BEFREE The age-related progression of MTC across histopathological groups (normal thyroid/C-cell hyperplasia; node-negative MTC; node-positive MTC) was statistically significant for 13 unique RET mutations (p.Cys611Phe/c.1832G > T; p.Cys611Tyr; p.Cys618Ser/c.1852T > A; p.Cys620Arg; p.Cys634Arg; p.Cys634Phe; p.Cys634Ser; p.Cys634Tyr; p.Glu768Asp; p.Leu790Phe/c.2370G > T; p.Val804Met; p.Ser891Ala; p.Met918Thr), whereas two unique RET mutations (p.Cys618Phe; p.Cys634Gly) trended toward statistical significance. 29656518 2018
dbSNP: rs74799832
rs74799832
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE LOXO-292 demonstrated potent and selective anti-RET activity preclinically against human cancer cell lines harboring endogenous RET gene alterations; cells engineered to express a KIF5B-RET fusion protein -/+ the RET V804M gatekeeper resistance mutation or the common RET activating mutation M918T; and RET-altered human cancer cell line and patient-derived xenografts, including a patient-derived RET fusion-positive xenograft injected orthotopically into the brain. 29912274 2018
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0342190
Disease:
C-cell hyperplasia of thyroid
0.010 GeneticVariation BEFREE The age-related progression of MTC across histopathological groups (normal thyroid/C-cell hyperplasia; node-negative MTC; node-positive MTC) was statistically significant for 13 unique RET mutations (p.Cys611Phe/c.1832G > T; p.Cys611Tyr; p.Cys618Ser/c.1852T > A; p.Cys620Arg; p.Cys634Arg; p.Cys634Phe; p.Cys634Ser; p.Cys634Tyr; p.Glu768Asp; p.Leu790Phe/c.2370G > T; p.Val804Met; p.Ser891Ala; p.Met918Thr), whereas two unique RET mutations (p.Cys618Phe; p.Cys634Gly) trended toward statistical significance. 29656518 2018
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C1833929
Disease:
THYROID CARCINOMA, SPORADIC MEDULLARY
0.010 GeneticVariation BEFREE We investigated a case of an aggressive, apparently sporadic medullary thyroid carcinoma (MTC) harboring a somatic RET p.Cys634Arg mutation (a known MTC driver). 30321177 2018
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0007115
Disease:
Malignant neoplasm of thyroid
0.010 GeneticVariation BEFREE In the present study, we investigated whether the oncogenic RET mutants RET2A (C634R) and RET2B (M918T) were regulated by LRIG1, and the possible effects of LRIG1 expression in thyroid cancer were investigated in three different clinical cohorts and in a RET2B-driven mouse model of MTC. 29436694 2018
dbSNP: rs75076352
rs75076352
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0040136
Disease:
Thyroid Neoplasm
0.010 GeneticVariation BEFREE In the present study, we investigated whether the oncogenic RET mutants RET2A (C634R) and RET2B (M918T) were regulated by LRIG1, and the possible effects of LRIG1 expression in thyroid cancer were investigated in three different clinical cohorts and in a RET2B-driven mouse model of MTC. 29436694 2018
dbSNP: rs75996173
rs75996173
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0342190
Disease:
C-cell hyperplasia of thyroid
0.010 GeneticVariation BEFREE The age-related progression of MTC across histopathological groups (normal thyroid/C-cell hyperplasia; node-negative MTC; node-positive MTC) was statistically significant for 13 unique RET mutations (p.Cys611Phe/c.1832G > T; p.Cys611Tyr; p.Cys618Ser/c.1852T > A; p.Cys620Arg; p.Cys634Arg; p.Cys634Phe; p.Cys634Ser; p.Cys634Tyr; p.Glu768Asp; p.Leu790Phe/c.2370G > T; p.Val804Met; p.Ser891Ala; p.Met918Thr), whereas two unique RET mutations (p.Cys618Phe; p.Cys634Gly) trended toward statistical significance. 29656518 2018
dbSNP: rs76262710
rs76262710
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0342190
Disease:
C-cell hyperplasia of thyroid
0.010 GeneticVariation BEFREE The age-related progression of MTC across histopathological groups (normal thyroid/C-cell hyperplasia; node-negative MTC; node-positive MTC) was statistically significant for 13 unique RET mutations (p.Cys611Phe/c.1832G > T; p.Cys611Tyr; p.Cys618Ser/c.1852T > A; p.Cys620Arg; p.Cys634Arg; p.Cys634Phe; p.Cys634Ser; p.Cys634Tyr; p.Glu768Asp; p.Leu790Phe/c.2370G > T; p.Val804Met; p.Ser891Ala; p.Met918Thr), whereas two unique RET mutations (p.Cys618Phe; p.Cys634Gly) trended toward statistical significance. 29656518 2018
dbSNP: rs77316810
rs77316810
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0342190
Disease:
C-cell hyperplasia of thyroid
0.010 GeneticVariation BEFREE The age-related progression of MTC across histopathological groups (normal thyroid/C-cell hyperplasia; node-negative MTC; node-positive MTC) was statistically significant for 13 unique RET mutations (p.Cys611Phe/c.1832G > T; p.Cys611Tyr; p.Cys618Ser/c.1852T > A; p.Cys620Arg; p.Cys634Arg; p.Cys634Phe; p.Cys634Ser; p.Cys634Tyr; p.Glu768Asp; p.Leu790Phe/c.2370G > T; p.Val804Met; p.Ser891Ala; p.Met918Thr), whereas two unique RET mutations (p.Cys618Phe; p.Cys634Gly) trended toward statistical significance. 29656518 2018
dbSNP: rs773631693
rs773631693
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0238462
Disease:
Medullary carcinoma of thyroid
0.010 GeneticVariation BEFREE To our knowledge, these are the first time two cases of MTC associated to RET p.L56M variant. 30072953 2018
dbSNP: rs78014899
rs78014899
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0342190
Disease:
C-cell hyperplasia of thyroid
0.010 GeneticVariation BEFREE The age-related progression of MTC across histopathological groups (normal thyroid/C-cell hyperplasia; node-negative MTC; node-positive MTC) was statistically significant for 13 unique RET mutations (p.Cys611Phe/c.1832G > T; p.Cys611Tyr; p.Cys618Ser/c.1852T > A; p.Cys620Arg; p.Cys634Arg; p.Cys634Phe; p.Cys634Ser; p.Cys634Tyr; p.Glu768Asp; p.Leu790Phe/c.2370G > T; p.Val804Met; p.Ser891Ala; p.Met918Thr), whereas two unique RET mutations (p.Cys618Phe; p.Cys634Gly) trended toward statistical significance. 29656518 2018
dbSNP: rs79658334
rs79658334
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0027651
Disease:
Neoplasms
0.010 GeneticVariation BEFREE A patient with RET M918T-mutant medullary thyroid cancer metastatic to the liver and an acquired RET V804M gatekeeper resistance mutation, previously treated with six MKI regimens, experienced rapid reductions in tumor calcitonin, CEA and cell-free DNA, resolution of painful hepatomegaly and tumor-related diarrhea and a confirmed tumor response. 29912274 2018
dbSNP: rs79658334
rs79658334
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0342190
Disease:
C-cell hyperplasia of thyroid
0.010 GeneticVariation BEFREE The age-related progression of MTC across histopathological groups (normal thyroid/C-cell hyperplasia; node-negative MTC; node-positive MTC) was statistically significant for 13 unique RET mutations (p.Cys611Phe/c.1832G > T; p.Cys611Tyr; p.Cys618Ser/c.1852T > A; p.Cys620Arg; p.Cys634Arg; p.Cys634Phe; p.Cys634Ser; p.Cys634Tyr; p.Glu768Asp; p.Leu790Phe/c.2370G > T; p.Val804Met; p.Ser891Ala; p.Met918Thr), whereas two unique RET mutations (p.Cys618Phe; p.Cys634Gly) trended toward statistical significance. 29656518 2018
dbSNP: rs79658334
rs79658334
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C0006826
Disease:
Malignant Neoplasms
0.010 GeneticVariation BEFREE LOXO-292 demonstrated potent and selective anti-RET activity preclinically against human cancer cell lines harboring endogenous RET gene alterations; cells engineered to express a KIF5B-RET fusion protein -/+ the RET V804M gatekeeper resistance mutation or the common RET activating mutation M918T; and RET-altered human cancer cell line and patient-derived xenografts, including a patient-derived RET fusion-positive xenograft injected orthotopically into the brain. 29912274 2018
dbSNP: rs79658334
rs79658334
Entrez Id: 5979
Gene Symbol: RET
RET
CUI: C1306459
Disease:
Primary malignant neoplasm
0.010 GeneticVariation BEFREE LOXO-292 demonstrated potent and selective anti-RET activity preclinically against human cancer cell lines harboring endogenous RET gene alterations; cells engineered to express a KIF5B-RET fusion protein -/+ the RET V804M gatekeeper resistance mutation or the common RET activating mutation M918T; and RET-altered human cancer cell line and patient-derived xenografts, including a patient-derived RET fusion-positive xenograft injected orthotopically into the brain. 29912274 2018