|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
BEFREE |
a) <i>RET</i> genetic screening is informative in both hereditary and sporadic MTC; b) the prevalence of different mutations varies with V804M being the most frequent; c) the association genotype-phenotype is confirmed; d) by <i>RET</i> screening, some VUS can be found but their pathogenic role must be demonstrated before screening the family.
|
31510104 |
2019 |
|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
BEFREE |
The RET tyrosine kinase is an important therapeutic target for medullary thyroid cancer (MTC), and drug resistance mutations of RET, particularly V804M and V804L, are a main challenge for the current targeted therapy of MTC based on RET inhibitors.
|
29133048 |
2018 |
|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
BEFREE |
Based on penetrance analysis in carrier relatives of p.Val804Met-positive cases of MTC, p.Val804Met is currently understood to have high-lifetime penetrance for MTC (87% by age 70), albeit of later onset of MTC than other RET mutations.
|
29590403 |
2018 |
|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
BEFREE |
This family of 11 individuals with familial MTC type of MEN 2A syndrome demonstrated the moderate risk RET p.Val804Met (protein valine at residue 804 replaced by methionine) genetic mutation, with 2 of the relatives presenting with dermal hyperneury, cutaneous lesions classically described in MEN 2B syndrome, and 1 relative also showing multiple sclerotic fibromas, a cutaneous manifestation of PTEN (phosphatase and tensin homologue) hamartoma-tumor syndrome.
|
29049491 |
2017 |
|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
BEFREE |
A Case of medullary thyroid carcinoma with de novo V804M RET germline mutation.
|
23341727 |
2013 |
|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
BEFREE |
A SNP in exon 13 (L769L) may serve as a modifier in the development of simultaneous MTC and PTC, as well as presentation of MTC, in patients with the RET V804M mutation.
|
21134561 |
2010 |
|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
BEFREE |
The rearranged during transfection (RET) V804M proto-oncogene mutation is rare and associated with medullary thyroid carcinoma (MTC).
|
19958926 |
2009 |
|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
BEFREE |
The patient is one of the few with a V804M mutation in whom the clinical expression did not fully conform to the definition of familial MTC.
|
19445625 |
2009 |
|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
BEFREE |
RET gene analysis showed a p.V804M missense mutation in exon 14, a low- but variably penetrant defect found in both sporadic and MEN2A-associated MTC/CCH, and a p.G691S polymorphism in exon 11.
|
18299477 |
2008 |
|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
BEFREE |
Indeed, the carrier of the V804M mutation associated with L769L polymorphism presented MTC at 32 years of age, in contrast to her asymptomatic mother, who had only the V804M mutation and had MTC diagnosed by fine-needle aspiration biopsy at 60 years of age.
|
15588382 |
2004 |
|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
BEFREE |
None of the other family members carrying the V804L mutation and/or the S836S polymorphism had clinical or biochemical evidence of MTC.
|
12694233 |
2003 |
|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
CLINVAR |
Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain.
|
9242375 |
1997 |
|
Medullary carcinoma of thyroid
|
|
0.800 |
GeneticVariation
|
CLINVAR |
|
|
|