Gene: RET ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs377767406
rs377767406
RET
0.030 GeneticVariation BEFREE Patients with MEN2A caused by a D631Y RET mutation most commonly present with pheochromocytomas. 28747092

2017
dbSNP: rs377767406
rs377767406
RET
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
dbSNP: rs377767406
rs377767406
RET
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
dbSNP: rs77558292
rs77558292
RET
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
dbSNP: rs77558292
rs77558292
RET
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
dbSNP: rs77558292
rs77558292
RET
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
dbSNP: rs77939446
rs77939446
RET
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
dbSNP: rs77939446
rs77939446
RET
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
dbSNP: rs77939446
rs77939446
RET
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
dbSNP: rs146646971
rs146646971
RET
0.020 GeneticVariation BEFREE Here we report a case of a homozygous RET K666N mutation leading to coincident MTC and PHEO. 29408964

2018
dbSNP: rs146646971
rs146646971
RET
0.020 GeneticVariation BEFREE None of the K666N DNA variant carriers had evidence of primary hyperparathyroidism or pheochromocytoma. 27673361

2016
dbSNP: rs1799939
rs1799939
RET
0.020 GeneticVariation BEFREE The findings propose a classification of 15 of the 26 VUS in RET without any well-defined risk profiles and suggest that the G691S SNP, or a combination of SNPs, may be associated with the development of PHEO. 28946813

2017
dbSNP: rs1799939
rs1799939
RET
0.020 GeneticVariation BEFREE We did not observe any association between the frequencies of L769L, S836S, or S904S/G691S variants and PHEO development (all P>0.05). 24616415

2014
dbSNP: rs75234356
rs75234356
RET
0.020 GeneticVariation BEFREE Our report suggests that cases with S891A mutation, akin to those with other RET mutations, require screening for pheochromocytoma. 24449023

2014
dbSNP: rs75234356
rs75234356
RET
0.020 GeneticVariation BEFREE S891A mutation caused medullary thyroid cancer (MTC) in 69.4%, pheochromocytoma in 2.8%, and parathyroid hyperplasia in 8.3% of the 36 patients of this case series and in 63.5, 4.1, and 4.1%, respectively, for the entire groups of 74 patients. 20554711

2010
dbSNP: rs75873440
rs75873440
RET
0.020 GeneticVariation BEFREE Moreover, we report the first case of pheochromocytoma among the RET p.G533C-carriers in this Brazilian family and explore the RET mutational status in DNA isolated from pheochromocytoma. 21834681

2011
dbSNP: rs75873440
rs75873440
RET
0.020 GeneticVariation BEFREE We describe the RET G533C mutation in exon 8 of the RET in two unrelated female index patients, with MEN2A phenotype, consisting of pheochromocytoma which was the presenting feature and medullary thyroid carcinoma. 18805915

2008
dbSNP: rs79781594
rs79781594
RET
0.020 GeneticVariation BEFREE An association between pheochromocytoma expression and amino acid substitutions at codon 618 was observed as follows: 0 of 7 patients with C618F, 5 of 21 patients with C618G (24%), 11 of 27 patients with C618R (41%), 7 of 41 patients with C618S (17%), and 0 of 9 patients with C618Y (P = .04.) 18063059

2007
dbSNP: rs79781594
rs79781594
RET
0.020 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
dbSNP: rs1183365192
rs1183365192
RET
0.010 GeneticVariation BEFREE No GDNF mutations were identified in patients with familial phaeochromocytoma disease, but a c277C-->T (R93W) sequence variant was identified in one of 28 sporadic tumours. 9215674

1997
dbSNP: rs121913308
rs121913308
RET
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
dbSNP: rs34682185
rs34682185
RET
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
dbSNP: rs377767402
rs377767402
RET
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
dbSNP: rs377767404
rs377767404
RET
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
dbSNP: rs377767405
rs377767405
RET
0.010 GeneticVariation BEFREE MTC and pheochromocytoma occurred equally in every genotype except C630S. 9839497

1998