|
Medullary carcinoma of thyroid
|
|
0.730 |
GeneticVariation
|
BEFREE |
Both in vitro and in vivo assays, using the human TT RET(C634W) MTC cell line, were done to assess the activity of sunitinib.
|
21325074 |
2011 |
|
Medullary carcinoma of thyroid
|
|
0.730 |
GeneticVariation
|
BEFREE |
Sequencing analysis of the RET proto-oncogene revealed a Cys634Trp (TGC->TGG) mutation in all clinically affected family members and in an asymptomatic 5-year-old child who, after thyroidectomy, was found to have multicentric medullary thyroid carcinoma and C-cell hyperplasia.
|
11939755 |
2002 |
|
Medullary carcinoma of thyroid
|
|
0.730 |
GeneticVariation
|
BEFREE |
The combined presence of C630R and C634W represent a novel somatic mutation in sporadic MTC.
|
28952196 |
2017 |
|
Familial medullary thyroid carcinoma
|
|
0.710 |
GeneticVariation
|
BEFREE |
The patient with FMTC had a mutation in codon 634 (C634W).
|
15588376 |
2004 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
GeneticVariation
|
BEFREE |
Three different known RET germline mutations in exon 11 (codon 634), p.Cys634Arg (c1900 T-->C) (de novo case), p.Cys634Phe (c1901 G-->T), p.Cys634Trp (c1902 C-->G), were detected in three individuals with MEN2 phenotype.
|
19841562 |
2010 |
|
Secondary Neoplasm
|
|
0.010 |
GeneticVariation
|
BEFREE |
Individuals with the C634R mutation presented significantly more distant metastases at diagnosis than subjects with the C634Y or C634W mutations (54.5% vs. 19.4% vs. 14.3%, respectively, P = 0.03).
|
12788868 |
2003 |
|
C-cell hyperplasia of thyroid
|
|
0.010 |
GeneticVariation
|
BEFREE |
Sequencing analysis of the RET proto-oncogene revealed a Cys634Trp (TGC->TGG) mutation in all clinically affected family members and in an asymptomatic 5-year-old child who, after thyroidectomy, was found to have multicentric medullary thyroid carcinoma and C-cell hyperplasia.
|
11939755 |
2002 |
|
Neoplasm Metastasis
|
|
0.010 |
GeneticVariation
|
BEFREE |
Individuals with the C634R mutation presented significantly more distant metastases at diagnosis than subjects with the C634Y or C634W mutations (54.5% vs. 19.4% vs. 14.3%, respectively, P = 0.03).
|
12788868 |
2003 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
GeneticVariation
|
CLINVAR |
RET activation by germline MEN2A and MEN2B mutations.
|
8570194 |
1995 |
|
Pheochromocytoma
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
CausalMutation
|
CLINVAR |
Activation of RET as a dominant transforming gene by germline mutations of MEN2A and MEN2B.
|
7824936 |
1995 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
CausalMutation
|
CLINVAR |
Germ-line mutations in nonsyndromic pheochromocytoma.
|
12000816 |
2002 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
CausalMutation
|
CLINVAR |
Multiple endocrine neoplasia type 2A: case report.
|
24331334 |
2014 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
CausalMutation
|
CLINVAR |
Early onset of medullary thyroid carcinoma in a kindred with multiple endocrine neoplasia type iia associated with cutaneous lichen amyloidosis.
|
11939755 |
2002 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
CausalMutation
|
CLINVAR |
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.
|
7907913 |
1994 |
|
Medullary carcinoma of thyroid
|
|
0.730 |
GeneticVariation
|
CLINVAR |
In this study, we have studied ZD6474 mechanism of action in TT and MZ-CRC-1 human MTC cell lines, carrying cysteine 634 to tryptophan (C634W) and methionine 918 to threonine (M918T) RET mutation respectively.
|
20943719 |
2011 |
|
Medullary carcinoma of thyroid
|
|
0.730 |
GeneticVariation
|
CLINVAR |
Anti-tumor activity of motesanib in a medullary thyroid cancer model.
|
21422803 |
2012 |
|
Medullary carcinoma of thyroid
|
|
0.730 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Early onset of medullary thyroid carcinoma in a kindred with multiple endocrine neoplasia type iia associated with cutaneous lichen amyloidosis.
|
11939755 |
2002 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Clinical screening as compared with DNA analysis in families with multiple endocrine neoplasia type 2A.
|
7915822 |
1994 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Surgery in MEN 2A Patients Older Than 5 Years with Micro-MTC: Outcome at Long-term Follow-up.
|
27406704 |
2016 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
RET activation by germline MEN2A and MEN2B mutations.
|
8570194 |
1995 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Evidence of MEN-2 in the original description of classic pheochromocytoma.
|
17898100 |
2007 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Genetics of pheochromocytoma and paraganglioma in Spanish pediatric patients.
|
23404858 |
2013 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
Specific mutations of the RET proto-oncogene are related to disease phenotype in MEN 2A and FMTC.
|
7907913 |
1994 |