Gene: RET ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs75996173
rs75996173
RET
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
dbSNP: rs75996173
rs75996173
RET
0.850 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013
dbSNP: rs75996173
rs75996173
RET
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
dbSNP: rs75996173
rs75996173
RET
0.850 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014
dbSNP: rs75996173
rs75996173
RET
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
dbSNP: rs75996173
rs75996173
RET
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
dbSNP: rs75996173
rs75996173
RET
0.850 GeneticVariation BEFREE High penetrance of pheochromocytoma associated with the novel C634Y/Y791F double germline mutation in the RET protooncogene. 20080836

2010
dbSNP: rs75996173
rs75996173
RET
0.850 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014
dbSNP: rs77724903
rs77724903
RET
0.830 GeneticVariation UNIPROT

dbSNP: rs77724903
rs77724903
RET
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
dbSNP: rs77724903
rs77724903
RET
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
dbSNP: rs77724903
rs77724903
RET
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
dbSNP: rs75076352
rs75076352
RET
0.820 GeneticVariation UNIPROT American Society of Clinical Oncology Expert Statement: collection and use of a cancer family history for oncology providers. 24493721

2014
dbSNP: rs75076352
rs75076352
RET
0.820 GeneticVariation UNIPROT Canadian guideline on genetic screening for hereditary renal cell cancers. 24319509

2013
dbSNP: rs75076352
rs75076352
RET
0.820 GeneticVariation UNIPROT Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline. 24893135

2014
dbSNP: rs75076352
rs75076352
RET
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
dbSNP: rs75076352
rs75076352
RET
0.820 GeneticVariation BEFREE There was a greater frequency of pheochromocytoma in those subjects who had the Cys634Arg mutation (p < 0.03). 18795243

2008
dbSNP: rs77709286
rs77709286
RET
0.800 GeneticVariation UNIPROT

dbSNP: rs74799832
rs74799832
RET
0.740 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
dbSNP: rs74799832
rs74799832
RET
0.740 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
dbSNP: rs74799832
rs74799832
RET
0.740 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
dbSNP: rs74799832
rs74799832
RET
0.740 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
dbSNP: rs76262710
rs76262710
RET
0.720 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: rs76262710
rs76262710
RET
0.720 GeneticVariation BEFREE In this report, we show that Cys 618 Arg mutation cosegregates with familial MTC and HSCR in two Moroccan Jewish families in which no involvement of pheochromocytoma or parathyroidism was observed. 9259198

1997
dbSNP: rs79658334
rs79658334
RET
0.710 GeneticVariation BEFREE This clinical case suggests that individuals carrying the germline V804M mutation should be screened annually for the presence of pheochromocytoma. 17466010

2007