|
rs869025648
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A recurrent synonymous VHL variant (c.414A>G, p.Pro138Pro) confers susceptibility to PHEO and VHL disease through splice disruption, leading to VHL dysfunction.
|
30946460 |
2019 |
|
rs62624461
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We have shown that SDHAF3 interacts directly with SDHB (residue 242 being key to this interaction), and that a variant in SDHAF3 (c.157 T > C [p.Phe53Leu]) may be more prevalent in individuals with PC/PGL, and is hypomorphic via impaired interaction with SDHB.
|
28738844 |
2017 |
|
rs113488022
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings imply that the BRAF V600E mutation is a rare event in pheochromocytoma.
|
26710756 |
2016 |
|
rs121913377
|
|
|
0.010 |
GeneticVariation |
BEFREE |
These findings imply that the BRAF V600E mutation is a rare event in pheochromocytoma.
|
26710756 |
2016 |
|
rs149617956
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In the present study, we aimed at determining the prevalence of the MITF, p.E318K variant, in a well-characterized French cohort of pheochromocytomas/paragangliomas (PCC/PGL).
|
27680874 |
2016 |
|
rs142441643
|
|
|
0.010 |
GeneticVariation |
BEFREE |
It is of special interest that one of our LS patients harbored the c.91C>T (p.Arg31*) mutation that was previously only reported in association with paragangliomas and pheochromocytomas, tightening the gap between these two rare disorders.
|
24781757 |
2015 |
|
rs142441643
|
|
|
0.010 |
GeneticVariation |
BEFREE |
It is of special interest that one of our LS patients harbored the c.91C>T (p.Arg31*) mutation that was previously only reported in association with paragangliomas and pheochromocytomas, tightening the gap between these two rare disorders.
|
24781757 |
2015 |
|
rs942160050
|
|
|
0.010 |
GeneticVariation |
BEFREE |
It is of special interest that one of our LS patients harbored the c.91C>T (p.Arg31*) mutation that was previously only reported in association with paragangliomas and pheochromocytomas, tightening the gap between these two rare disorders.
|
24781757 |
2015 |
|
rs267607170
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The same VHL mutation has been reported in a patient who developed a pheochromocytoma at the age of 10 years; therefore, for known VHL Q164R mutation carriers, we suggest screening for pheochromocytoma beginning at 2 years of age.
|
20583150 |
2010 |
|
rs34682185
|
|
|
0.010 |
GeneticVariation |
BEFREE |
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 |
|
rs374918502
|
|
|
0.010 |
GeneticVariation |
BEFREE |
There was a greater frequency of pheochromocytoma in those subjects who had the Cys634Arg mutation (p < 0.03).
|
18795243 |
2008 |
|
rs869025630
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Herein, we describe a 20-year-old man with an apparently sporadic pheochromocytoma associated with a novel, relatively conservative germline Gly104Val VHL gene mutation, which is localized within exon 1 of the VHL gene corresponding to the beta -domain of the VHL protein (pVHL).
|
18584357 |
2008 |
|
rs5030827
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The von Hippel-Lindau (VHL) germline mutation V84L manifests as early-onset bilateral pheochromocytoma.
|
16502427 |
2006 |
|
rs78014899
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To date in this family the E768D mutation has not been associated with either phaeochromocytoma or hyperparathyroidism.
|
16736292 |
2006 |
|
rs121913308
|
|
|
0.010 |
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 |
|
rs377767402
|
|
|
0.010 |
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 |
|
rs377767404
|
|
|
0.010 |
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 |
|
rs55846256
|
|
|
0.010 |
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 |
|
rs1420960657
|
|
|
0.010 |
GeneticVariation |
BEFREE |
K40E: a novel succinate dehydrogenase (SDH)B mutation causing familial phaeochromocytoma and paraganglioma.
|
15473885 |
2004 |
|
rs1416313401
|
|
|
0.010 |
GeneticVariation |
BEFREE |
From analysis of naturally occurring pVHL mutants, it seems that only point mutations such as pVHL(Y98H) and pVHL(Y112H) (that predispose to haemangioblastoma and phaeochromocytoma, but not to renal cell carcinoma) disrupt pVHL's microtubule-stabilizing function.
|
12510195 |
2003 |
|
rs876659313
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The observed constellation of microcephaly, deafness, cryptorchidism, developmental delay, hypertension, and bilateral pheochromocytoma in association with a VHL mutation A451G in a patient with negative family history has not previously been described in the literature.
|
12500216 |
2003 |
|
rs1188254133
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A type 2C pVHL mutant (V188L), which is associated with a PHE only phenotype (and had been shown previously to retain the ability to promote HIF ubiquitylation), retained the ability to suppress CCND1expression suggesting that loss of pVHL-mediated suppression of cyclin D1 is not necessary for PHE development in VHL disease.
|
12097293 |
2002 |
|
rs1400537035
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A type 2C pVHL mutant (V188L), which is associated with a PHE only phenotype (and had been shown previously to retain the ability to promote HIF ubiquitylation), retained the ability to suppress CCND1expression suggesting that loss of pVHL-mediated suppression of cyclin D1 is not necessary for PHE development in VHL disease.
|
12097293 |
2002 |
|
rs397516444
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Four mutations (Arg113Stop, Gln132Stop, Leu158Val, and Cys162Tyr) previously characterized as type 1 mutations were identified in the type 2 (with pheochromocytoma) Japanese families.
|
10761708 |
2000 |
|
rs377767405
|
|
|
0.010 |
GeneticVariation |
BEFREE |
MTC and pheochromocytoma occurred equally in every genotype except C630S.
|
9839497 |
1998 |