|
Familial medullary thyroid carcinoma
|
|
0.880 |
GeneticVariation
|
BEFREE |
Interestingly, the level of transforming activity correlated with clinical phenotypes; high group Ret with the A883F or M918T mutation and low group Ret with the E768D, V804L or S891A mutation were associated with the development of MEN 2B and FMTC, respectively.
|
10445857 |
1999 |
|
Familial medullary thyroid carcinoma
|
|
0.880 |
GeneticVariation
|
BEFREE |
V804M RET mutation and familial medullary thyroid carcinoma: report of a large family with expression of the disease only in the homozygous gene carriers.
|
12019403 |
2002 |
|
Familial medullary thyroid carcinoma
|
|
0.880 |
GeneticVariation
|
BEFREE |
In this study we report the segregation of a germline V804L mutation and a germline sequence variant S836S in exon 14 of the RET gene in an extended Hungarian FMTC kindred comprising 80 individuals of four generations.
|
12694233 |
2003 |
|
Familial medullary thyroid carcinoma
|
|
0.880 |
GeneticVariation
|
BEFREE |
Characterization of V804M-mutated RET proto-oncogene associated with familial medullary thyroid cancer, report of the largest Turkish family.
|
25501606 |
2015 |
|
Familial medullary thyroid carcinoma
|
|
0.880 |
GeneticVariation
|
BEFREE |
Variable expressivity of familial medullary thyroid carcinoma (FMTC) due to a RET V804M (GTG-->ATG) mutation.
|
10876191 |
2000 |
|
Familial medullary thyroid carcinoma
|
|
0.880 |
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 |
|
Familial medullary thyroid carcinoma
|
|
0.880 |
GeneticVariation
|
BEFREE |
PHPT was present in one patient with mutation in exon 14 (Val804Met), whereas all other patients affected with mutations in exon 14 had hereditary MTC without PHPT and/or pheos.
|
16865647 |
2006 |
|
Familial medullary thyroid carcinoma
|
|
0.880 |
GeneticVariation
|
BEFREE |
In contrast, V804M was a de novo mutation, that has been reported in patients with familial medullary thyroid carcinoma.
|
10076558 |
1999 |
|
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 |
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 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 |
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 |
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 |
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
|
BEFREE |
A Case of medullary thyroid carcinoma with de novo V804M RET germline mutation.
|
23341727 |
2013 |
|
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 |
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 |
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 |
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 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.740 |
GeneticVariation
|
BEFREE |
A NOVEL DOUBLE MUTATION VAL648ILE AND VAL804LEU OF RET PROTO-ONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2.
|
26247112 |
2015 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.740 |
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 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.740 |
GeneticVariation
|
BEFREE |
Some studies have suggested that the V804L mutation causes the low penetrance multiple endocrine neoplasia type 2 syndrome, with late onset and relatively indolent course, whereas others have reported that V804L and V804M have an aggressive potential.
|
15741265 |
2005 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.740 |
GeneticVariation
|
BEFREE |
RET proto-oncogene in Sardinia: V804M is the most frequent mutation and may be associated with FMTC/MEN-2A phenotype.
|
17316110 |
2007 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
GeneticVariation
|
BEFREE |
A NOVEL DOUBLE MUTATION VAL648ILE AND VAL804LEU OF RET PROTO-ONCOGENE IN MULTIPLE ENDOCRINE NEOPLASIA TYPE 2.
|
26247112 |
2015 |
|
Multiple endocrine neoplasia Type 2
|
|
0.720 |
GeneticVariation
|
BEFREE |
Some studies have suggested that the V804L mutation causes the low penetrance multiple endocrine neoplasia type 2 syndrome, with late onset and relatively indolent course, whereas others have reported that V804L and V804M have an aggressive potential.
|
15741265 |
2005 |