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 |
|
|
|