|
Familial medullary thyroid carcinoma
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Novel germline RET proto-oncogene mutations associated with medullary thyroid carcinoma (MTC): mutation analysis in Japanese patients with MTC.
|
9223675 |
1997 |
|
Familial medullary thyroid carcinoma
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Cys 618 Arg mutation in the RET proto-oncogene associated with familial medullary thyroid carcinoma and maternally transmitted Hirschsprung's disease suggesting a role for imprinting.
|
9259198 |
1997 |
|
Familial medullary thyroid carcinoma
|
|
0.710 |
GeneticVariation
|
UNIPROT |
A novel point mutation in the intracellular domain of the ret protooncogene in a family with medullary thyroid carcinoma.
|
9398735 |
1997 |
|
Familial medullary thyroid carcinoma
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Mutation analysis of the RET proto-oncogene in Dutch families with MEN 2A, MEN 2B and FMTC: two novel mutations and one de novo mutation for MEN 2A.
|
8557249 |
1996 |
|
Familial medullary thyroid carcinoma
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Diagnosis of multiple endocrine neoplasia [MEN] 2A, 2B and familial medullary thyroid cancer [FMTC] by multiplex PCR and heteroduplex analyses of RET proto-oncogene mutations.
|
8807338 |
1996 |
|
Familial medullary thyroid carcinoma
|
|
0.710 |
GeneticVariation
|
UNIPROT |
RET mutations in exons 13 and 14 of FMTC patients.
|
7784092 |
1995 |
|
Familial medullary thyroid carcinoma
|
|
0.710 |
GeneticVariation
|
UNIPROT |
A novel point mutation in the tyrosine kinase domain of the RET proto-oncogene in sporadic medullary thyroid carcinoma and in a family with FMTC.
|
7845675 |
1995 |
|
Multiple endocrine neoplasia Type 2
|
|
0.710 |
CausalMutation
|
CLINVAR |
RET activation by germline MEN2A and MEN2B mutations.
|
8570194 |
1995 |
|
Familial medullary thyroid carcinoma
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Analysis of RET protooncogene point mutations distinguishes heritable from nonheritable medullary thyroid carcinomas.
|
8625130 |
1995 |
|
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 |
|
Familial medullary thyroid carcinoma
|
|
0.710 |
GeneticVariation
|
UNIPROT |
RET proto-oncogene mutations in French MEN 2A and FMTC families.
|
7874109 |
1994 |
|
Familial medullary thyroid carcinoma
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Germline RET mutations in MEN 2A and FMTC and their detection by simple DNA diagnostic tests.
|
7915165 |
1994 |
|
Familial medullary thyroid carcinoma
|
|
0.710 |
GeneticVariation
|
UNIPROT |
RET proto-oncogene mutations in inherited and sporadic medullary thyroid cancer.
|
7849720 |
1994 |
|
Familial medullary thyroid carcinoma
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Diverse phenotypes associated with exon 10 mutations of the RET proto-oncogene.
|
7881414 |
1994 |
|
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 |
|
Familial medullary thyroid carcinoma
|
|
0.710 |
GeneticVariation
|
UNIPROT |
Mutations in the RET proto-oncogene are associated with MEN 2A and FMTC.
|
8103403 |
1993 |
|
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 |
|
Medullary carcinoma of thyroid
|
|
0.730 |
GeneticVariation
|
CLINVAR |
Prospective enterprise-level molecular genotyping of a cohort of cancer patients.
|
25157968 |
2014 |
|
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 |
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
|
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 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
|
27854360 |
2017 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
GeneticVariation
|
UNIPROT |
ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.
|
25356965 |
2015 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A practice guideline from the American College of Medical Genetics and Genomics and the National Society of Genetic Counselors: referral indications for cancer predisposition assessment.
|
25394175 |
2015 |