rs75996173
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
rs75996173
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
|
24493721 |
2014 |
rs75996173
|
|
|
0.850 |
GeneticVariation |
UNIPROT |
Canadian guideline on genetic screening for hereditary renal cell cancers.
|
24319509 |
2013 |
rs75996173
|
|
|
0.850 |
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
|
|
|
0.850 |
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
|
|
|
0.850 |
GeneticVariation |
BEFREE |
High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene.
|
20080836 |
2010 |
rs75996173
|
|
|
0.850 |
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
|
|
|
0.850 |
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 |
rs75996173
|
|
A |
0.850 |
CausalMutation |
CLINVAR |
|
|
|
rs75996173
|
|
T |
0.850 |
CausalMutation |
CLINVAR |
|
|
|
rs75996173
|
|
C |
0.850 |
CausalMutation |
CLINVAR |
|
|
|
rs77724903
|
|
|
0.830 |
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
|
|
|
0.830 |
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 |
rs77724903
|
|
|
0.830 |
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 |
rs77724903
|
|
|
0.830 |
GeneticVariation |
UNIPROT |
|
|
|
rs77724903
|
|
T |
0.830 |
CausalMutation |
CLINVAR |
|
|
|
rs75076352
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers.
|
24493721 |
2014 |
rs75076352
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline.
|
24893135 |
2014 |
rs75076352
|
|
|
0.820 |
GeneticVariation |
UNIPROT |
Canadian guideline on genetic screening for hereditary renal cell cancers.
|
24319509 |
2013 |
rs75076352
|
|
|
0.820 |
GeneticVariation |
BEFREE |
There was a greater frequency of pheochromocytoma in those subjects who had the Cys634Arg mutation (p < 0.03).
|
18795243 |
2008 |
rs75076352
|
|
|
0.820 |
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 |
rs75076352
|
|
C |
0.820 |
CausalMutation |
CLINVAR |
|
|
|
rs75076352
|
|
G |
0.820 |
CausalMutation |
CLINVAR |
|
|
|
rs77709286
|
|
G |
0.800 |
CausalMutation |
CLINVAR |
|
|
|
rs77709286
|
|
|
0.800 |
GeneticVariation |
UNIPROT |
|
|
|