|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Patients with Multiple Endocrine Neoplasia type 2 (MEN 2) are at high risk of developing aggressive medullary thyroid carcinoma (MTC) in childhood, with the highest risk in those with MEN type 2B (of whom >95% have an M918T RET proto-oncogene mutation).
|
22992277 |
2012 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Medullary thyroid carcinoma identified within the first year of life in children with hereditary multiple endocrine neoplasia type 2A (codon 634) and 2B.
|
19240193 |
2009 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Medullary thyroid carcinoma in a 2-month-old male with multiple endocrine neoplasia 2B and symptoms of pseudo-Hirschsprung disease: a case report.
|
17848262 |
2007 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
External ophthalmic findings in multiple endocrine neoplasia type 2B.
|
15281979 |
2004 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
A two-hit model for development of multiple endocrine neoplasia type 2B by RET mutations.
|
10679286 |
2000 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma.
|
10445857 |
1999 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain.
|
9242375 |
1997 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Multiple endocrine neoplasia type 2B (mucosal neuroma syndrome, Wagenmann-Froboese syndrome).
|
8880581 |
1996 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B.
|
7824936 |
1995 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
GeneticVariation
|
CLINVAR |
RET activation by germline MEN2A and MEN2B mutations.
|
8570194 |
1995 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
A mutation in the RET proto-oncogene associated with multiple endocrine neoplasia type 2B and sporadic medullary thyroid carcinoma.
|
7906866 |
1994 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2b
|
C |
0.900 |
CausalMutation
|
CLINVAR |
Single missense mutation in the tyrosine kinase catalytic domain of the RET protooncogene is associated with multiple endocrine neoplasia type 2B.
|
7906417 |
1994 |
|
rs74799832
|
|
Medullary carcinoma of thyroid
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
rs74799832
|
|
Medullary carcinoma of thyroid
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
AZD1480 blocks growth and tumorigenesis of RET- activated thyroid cancer cell lines.
|
23056499 |
2012 |
|
rs74799832
|
|
Medullary carcinoma of thyroid
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Anti-tumor activity of motesanib in a medullary thyroid cancer model.
|
21422803 |
2012 |
|
rs74799832
|
|
Medullary carcinoma of thyroid
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
Prognostic significance of somatic RET oncogene mutations in sporadic medullary thyroid cancer: a 10-year follow-up study.
|
18073307 |
2008 |
|
rs74799832
|
|
Medullary carcinoma of thyroid
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2B.
|
17108110 |
2006 |
|
rs74799832
|
|
Medullary carcinoma of thyroid
|
C |
0.800 |
CausalMutation
|
CLINVAR |
We tested on thyroid follicular cells the transforming activity of RET(C634S), RET(K603Q), another mutant identified in a kindred with both PTC and MTC, RET(C634R) a commonly isolated allele in MEN2A, RET(M918T) responsible for MEN2B and also identified in kindreds with both PTC and MTC, and RET/PTC1 the rearranged oncogene that characterizes bona fide PTC in patients without MTC.
|
15277225 |
2004 |
|
rs74799832
|
|
Medullary carcinoma of thyroid
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
These MTCs also harbored the somatic RET M918T mutation and also showed the highest numbers of CGH alterations in the series (p<0.003).
|
11351254 |
2001 |
|
rs74799832
|
|
Medullary carcinoma of thyroid
|
C |
0.800 |
CausalMutation
|
CLINVAR |
Biological and biochemical properties of Ret with kinase domain mutations identified in multiple endocrine neoplasia type 2B and familial medullary thyroid carcinoma.
|
10445857 |
1999 |
|
rs74799832
|
|
Medullary carcinoma of thyroid
|
C |
0.800 |
GeneticVariation
|
CLINVAR |
C618S developed late onset type of MTC as compared with that of C634R, C634Y and M918T.
|
9839497 |
1998 |
|
rs74799832
|
|
Pheochromocytoma
|
C |
0.740 |
CausalMutation
|
CLINVAR |
|
|
|
|
rs74799832
|
|
Thyroid Neoplasm
|
C |
0.720 |
CausalMutation
|
CLINVAR |
Vandetanib in patients with locally advanced or metastatic medullary thyroid cancer: a randomized, double-blind phase III trial.
|
22025146 |
2012 |
|
rs74799832
|
|
Thyroid Neoplasm
|
C |
0.720 |
CausalMutation
|
CLINVAR |
Thyroid cancer cell lines harboring RET/PTC1 (TPC-1), RET M918T (MZ-CRC1) and RET C634W (TT) alterations, as well as TPC-1 xenografts, were treated with JAK inhibitor, AZD1480.
|
23056499 |
2012 |
|
rs74799832
|
|
Multiple Endocrine Neoplasia Type 2a
|
C |
0.720 |
CausalMutation
|
CLINVAR |
In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer.
|
21810974 |
2011 |