Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
An activating germline RET proto-oncogene mutation responsible for a multiple endocrine neoplasia syndrome type 2 (MEN2) or a familial hereditary MTC syndrome is carried by 25% to 35% of patients with MTC.
|
18502338 |
2008 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline mutation of the RET proto-oncogene in members of Slovak families with multiple endocrine neoplasia 2.
|
11949835 |
2001 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Medullary thyroid carcinomas (MTC) arise from thyroid parafollicular, calcitonin-producing C-cells and can occur either as sporadic or as hereditary diseases in the context of familial syndromes, including multiple endocrine neoplasia 2A (MEN2A), multiple endocrine neoplasia 2B (MEN2B) and familial MTC (FMTC).
|
28931560 |
2018 |
Multiple Endocrine Neoplasia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Oncogenic activation of RET, achieved by different mechanisms, is detected in a sizeable fraction of human thyroid tumors, as well as in multiple endocrine neoplasia types 2A and 2B (MEN2A and MEN2B) and familial medullary thyroid carcinoma tumoral syndromes.
|
8654369 |
1996 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
On the other hand, RET germ-line mutations cause the inheritance of familial tumors in multiple endocrine neoplasia (MEN)-2 diseases, which account for a minority of pheochromocytomas.
|
10728700 |
2000 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
RET mutations are associated with the dominantly inherited cancer syndromes multiple endocrine neoplasia (MEN) types 2A and 2B and familial medullary thyroid carcinoma (FMTC).
|
7563185 |
1995 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
On the other hand, different point mutations activate RET in familial multiple endocrine neoplasia syndromes familial medullary thyroid carcinoma (FMTC), MEN-2A and MEN-2B.
|
9681850 |
1998 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A rare extracellular D631Y germline mutation of the RET proto-oncogene in two Korean families with multiple endocrine neoplasia 2A.
|
16839264 |
2006 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hirschsprung disease (HSCR) is associated with the later development of multiple endocrine neoplasia (MEN2), because RET gene variations are associated with both conditions.
|
20152359 |
2010 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The A883F germline mutation of the rearranged during transfection (RET) proto-oncogene causes multiple endocrine neoplasia 2B.
|
28323957 |
2017 |
Multiple Endocrine Neoplasia
|
0.700 |
AlteredExpression
|
disease |
LHGDN |
Amplification and overexpression of mutant RET in multiple endocrine neoplasia type 2-associated medullary thyroid carcinoma.
|
12519890 |
2003 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Multiple endocrine neoplasia 2B (MEN2B) has a classic childhood phenotypic presentation characterized by mucosal neuromas and marfanoid habitus.
|
17963006 |
2008 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The International RET Mutation Consortium was first convened as part of the Fifth International Workshop on Multiple Endocrine Neoplasia, Stockholm, Sweden, in an attempt to analyse the relationship of RET mutation and disease phenotype in the autosomal dominantly inherited multiple endocrine neoplasia type 2 (MEN 2) syndromes.
|
7595170 |
1995 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The RET E616Q Variant is a Gain of Function Mutation Present in a Family with Features of Multiple Endocrine Neoplasia 2A.
|
27704398 |
2017 |
Multiple Endocrine Neoplasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
The mechanism whereby rearranged during transfection influences gene activation in multiple endocrine neoplasia 2 is complex, but genetic variations impair the rearranged during transfection tyrosine kinase response to tyrosine kinase activation, thus appearing to dictate downstream signaling cascade responses.
|
22584708 |
2012 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Activating point mutations of RET gene have been demonstrated to be causative of the familial form of medullary thyroid cancer (MTC), both isolated (FMTC) and associated to other endocrine neoplasia [multiple endocrine neoplasia (MEN) 2A and 2B].
|
15717653 |
2004 |
Multiple Endocrine Neoplasia
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Long-term follow up of a "sporadic" unilateral pheochromocytoma revealing multiple endocrine neoplasia MEN2A-2 in an elderly woman.
|
14739494 |
2003 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline RET gene mutations are causative of multiple endocrine neoplasia (MEN) 2 and may be identified by genetic screening.
|
17895320 |
2007 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Germline mutation of the RET proto-oncogene in members of Slovak families with multiple endocrine neoplasia 2.
|
11949835 |
2001 |
Multiple Endocrine Neoplasia
|
0.700 |
Biomarker
|
disease |
BEFREE |
The constitutive activation of the RET by somatic rearrangement with other partner genes or germ-line mutations causes a considerable population of human papillary thyroid carcinomas or multiple endocrine neoplasia (MEN) type 2A and 2B, respectively, whereas the dysfunction of RET by germ-line missense and/or nonsense mutations causes Hirschsprung's disease.
|
15013219 |
2004 |
Multiple Endocrine Neoplasia
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Expression of multiple endocrine neoplasia 2B RET in neuroblastoma cells alters cell adhesion in vitro, enhances metastatic behavior in vivo, and activates Jun kinase.
|
9393766 |
1997 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Hereditary medullary thyroid carcinoma can present as a part of multiple endocrine neoplasia syndrome by rearranged during transfection gene mutation.
|
29779869 |
2018 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Germline missense mutations of the RET protooncogene cause a clinical spectrum called multiple endocrine neoplasia (MEN) type 2.
|
20554711 |
2010 |
Multiple Endocrine Neoplasia
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Different RET oncogene mutations have been found to be associated with inherited medullary thyroid carcinoma (MTC) in the context of three different syndromes including multiple endocrine neoplasia types 2A (MEN 2A) and 2B (MEN 2B) and familial medullary thyroid carcinoma (FMTC).
|
12604374 |
2004 |