|
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 |
|
|
|
|
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 |
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 |
CausalMutation
|
CLINVAR |
Twenty years of lesson learning: how does the RET genetic screening test impact the clinical management of medullary thyroid cancer?
|
25440022 |
2015 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.740 |
CausalMutation
|
CLINVAR |
Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.
|
25810047 |
2015 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.740 |
CausalMutation
|
CLINVAR |
In silico and in vitro analysis of rare germline allelic variants of RET oncogene associated with medullary thyroid cancer.
|
21810974 |
2011 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.740 |
CausalMutation
|
CLINVAR |
Germline RET sequence variation I852M and occult medullary thyroid cancer: harmless polymorphism or causative mutation?
|
21711375 |
2011 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.740 |
CausalMutation
|
CLINVAR |
A novel de novo germ-line V292M mutation in the extracellular region of RET in a patient with phaeochromocytoma and medullary thyroid carcinoma: functional characterization.
|
20039896 |
2010 |
|
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 2a
|
|
0.740 |
CausalMutation
|
CLINVAR |
New era: prophylactic surgery for patients with multiple endocrine neoplasia-2a.
|
16813623 |
2006 |
|
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 |
CausalMutation
|
CLINVAR |
Disease associated mutations at valine 804 in the RET receptor tyrosine kinase confer resistance to selective kinase inhibitors.
|
15184865 |
2004 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.740 |
CausalMutation
|
CLINVAR |
Germline RET V804M mutation associated with multiple endocrine neoplasia type 2A.
|
15386323 |
2004 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.740 |
CausalMutation
|
CLINVAR |
Familial medullary thyroid carcinoma: clinical variability and low aggressiveness associated with RET mutation at codon 804.
|
11932300 |
2002 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.740 |
CausalMutation
|
CLINVAR |
A RET double mutation in the germline of a kindred with FMTC.
|
10826520 |
2000 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.740 |
CausalMutation
|
CLINVAR |
A GTG to ATG novel point mutation at codon 804 in exon 14 of the RET proto-oncogene in two families affected by familial medullary thyroid carcinoma.
|
9452077 |
1998 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.740 |
CausalMutation
|
CLINVAR |
Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain.
|
9242375 |
1997 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.740 |
GeneticVariation
|
CLINVAR |
Oncogenic activation of RET by two distinct FMTC mutations affecting the tyrosine kinase domain.
|
9242375 |
1997 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.740 |
CausalMutation
|
CLINVAR |
The relationship between specific RET proto-oncogene mutations and disease phenotype in multiple endocrine neoplasia type 2. International RET mutation consortium analysis.
|
8918855 |
1996 |
|
Multiple Endocrine Neoplasia Type 2a
|
|
0.740 |
GeneticVariation
|
CLINVAR |
|
|
|