|
rs75996173
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The overall penetrance of MTC and pheochromocytoma in patients with the p.C634Y/p.Y791F mutations was 79% and 13%, respectively.
|
23723040 |
2013 |
|
rs75996173
|
|
|
0.060 |
GeneticVariation |
BEFREE |
In the maternal origin, p.C634Y caused bilateral MTC in all 5 cases and bilateral pheochromocytoma in 2 of the 5; the earliest onset age was 28 years.
|
21655256 |
2011 |
|
rs75996173
|
|
|
0.060 |
GeneticVariation |
BEFREE |
High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene.
|
20080836 |
2010 |
|
rs75996173
|
|
|
0.060 |
GeneticVariation |
BEFREE |
No statistical significance was found between the incidence of PCC and different genotypes of codon 634 in MEN2A patients, whereas the incidence of HPT was closely associated with C634R and C634Y.
|
17573899 |
2007 |
|
rs75996173
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The novel variants K666E, IVS9-11G-->A, D631V in cis with H665Q, D631E (with C634Y), E623K (in trans with C618S), 616delGAG (in trans with C609Y), Y606C, C630R, and R635-T636insELCR;T636P were detected in patients with various clinical presentations ranging from thyroid goiter, medullary thyroid carcinoma, and pheochromocytoma to classic multiple endocrine neoplasia type 2A.
|
15858153 |
2005 |
|
rs75996173
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Family 1 showed a germline mutation (C634Y) in three individuals; a sister and a brother with symptomatic MTC; the former also presented with pheochromocytoma and hyperparathyroidism, and her son was a nine-year-old boy of previously unknown status.
|
11987030 |
2002 |
|
rs74799832
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Eight patients (21%) developed PHEO in the course of follow-up to date, all of whom were sporadic cases with the classic M918T RET mutation.
|
30113649 |
2019 |
|
rs74799832
|
|
|
0.040 |
GeneticVariation |
BEFREE |
Germline mutations in codon 918 of exon 16 of the RET gene (M918T) are classically associated with multiple endocrine neoplasia type 2B (MEN 2B) with highly aggressive medullary thyroid cancer (MTC), pheochromocytoma and a unique phenotype.
|
27807060 |
2016 |
|
rs74799832
|
|
|
0.040 |
GeneticVariation |
BEFREE |
One patient having a mutation in exon 16 (Met918Thr) presented with the MEN2B phenotype, six patients from two families had hereditary MTC without pheochromocytoma (pheo) and primary hyperparathyroidism (PHPT), whereas 33 patients from 15 families showed the MEN2A phenotype.
|
16865647 |
2006 |
|
rs74799832
|
|
|
0.040 |
GeneticVariation |
BEFREE |
A single RET mutation, resulting in the substitution M918T, has been identified in 94% of cases of MEN 2B (which consists of MTC, pheochromocytoma and developmental abnormalities).
|
9294615 |
1997 |
|
rs377767406
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Patients with MEN2A caused by a D631Y RET mutation most commonly present with pheochromocytomas.
|
28747092 |
2017 |
|
rs77724903
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In this study, we report new, unrelated Brazilian individuals with germline RET Y791F-only: two tumour-free elderly controls; two individuals with sporadic MTC whose Y791F-carrying relatives did not show any evidence of tumours; and a 74-year-old phaeochromocytoma patient without MTC.
|
25425582 |
2015 |
|
rs77724903
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The overall penetrance of MTC and pheochromocytoma in patients with the p.C634Y/p.Y791F mutations was 79% and 13%, respectively.
|
23723040 |
2013 |
|
rs377767406
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Patients with a D631Y RET mutation typically present with pheochromocytoma and medullary thyroid carcinoma appears to occur with a later onset than reported with other RET mutations.
|
22274720 |
2012 |
|
rs77558292
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In this short review article, we comment on our previous report of a large multiple endocrine neoplasia type 2A kindred with the same Cys609Ser germline RET mutation in which, conversely, the syndrome was characterized by a slightly aggressive, highly penetrant form of medullary thyroid carcinoma that was associated with low penetrance of pheochromocytoma and primary hyperparathyroidism.
|
22584703 |
2012 |
|
rs77939446
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In this short review article, we comment on our previous report of a large multiple endocrine neoplasia type 2A kindred with the same Cys609Ser germline RET mutation in which, conversely, the syndrome was characterized by a slightly aggressive, highly penetrant form of medullary thyroid carcinoma that was associated with low penetrance of pheochromocytoma and primary hyperparathyroidism.
|
22584703 |
2012 |
|
rs77724903
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Our data suggest that the natural history of the novel C634Y/Y791F double mutation carries a codon 634-like pattern of medullary thyroid carcinoma development, is associated with increased susceptibility to unusually large bilateral pheochromocytomas, and is likely more biologically active than each individual mutation.
|
20080836 |
2010 |
|
rs77558292
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation predispose to a scarcely aggressive, highly penetrant MTC and a low penetrance of pheochromocytoma and primary hyperparathyroidism.
|
19475497 |
2009 |
|
rs77939446
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In conclusion, at variance from what already known, in this large kindred the Cys609Ser RET mutation predispose to a scarcely aggressive, highly penetrant MTC and a low penetrance of pheochromocytoma and primary hyperparathyroidism.
|
19475497 |
2009 |
|
rs75076352
|
|
|
0.030 |
GeneticVariation |
BEFREE |
There was a greater frequency of pheochromocytoma in those subjects who had the Cys634Arg mutation (p < 0.03).
|
18795243 |
2008 |
|
rs75076352
|
|
|
0.030 |
GeneticVariation |
BEFREE |
No statistical significance was found between the incidence of PCC and different genotypes of codon 634 in MEN2A patients, whereas the incidence of HPT was closely associated with C634R and C634Y.
|
17573899 |
2007 |
|
rs377767406
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In addition, pheochromocytoma might be the first manifestation prior to the development of MTC in some patients with the D631Y mutation.
|
16839264 |
2006 |
|
rs75076352
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Furthermore, it would appear that C630R mirrors C634R in penetrance (100% in this family) and in early age of onset of MTC, although paradoxically, no pheochromocytomas and hyperparathyroidism have developed.
|
16053382 |
2005 |
|
rs77558292
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma.
|
16343103 |
2005 |
|
rs77939446
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Multiple endocrine neoplasia 2A due to a unique C609S RET mutation presents with pheochromocytoma and reduced penetrance of medullary thyroid carcinoma.
|
16343103 |
2005 |