RET, ret proto-oncogene, 5979

N. diseases: 607; N. variants: 162
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease 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
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 AlteredExpression disease BEFREE RET isoforms were expressed at different levels in MTC, PHEO, PTC, and normal thyroid tissues: RET9 expression was higher in PHEO than in MTC, PTC, and normal thyroid tissues. 31278686 2019
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 Biomarker disease BEFREE MEN2B is a very rare autosomal dominant hereditary tumor syndrome associated with medullary thyroid carcinoma (MTC) in 100% cases, pheochromocytoma in 50% cases and multiple extra-endocrine features, many of which can be quite disabling. 28698189 2018
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease BEFREE The remaining 15 RET mutation carriers did not exhibit CLA; of these, 1 presented with MTC and pheochromocytoma, 9 with MTC only, 2 with elevated serum calcitonin, and 3 younger subjects with normal serum calcitonin levels. 30049837 2018
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 Biomarker disease BEFREE Of the 92 cases included 64% had presented as an incidentaloma, 32% as a suspected pheochromocytoma and 4% had been screened because of previously diagnosed MEN2A. 29217652 2018
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease BEFREE The remaining 15 RET mutation carriers did not exhibit CLA; of these, one presented with MTC and pheochromocytoma, nine with MTC only, two with elevated serum calcitonin and three younger subjects with normal serum calcitonin levels. 30300539 2018
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease BEFREE Familial screening for rearranged during transfection mutation and lifelong monitoring for associated pheochromocytoma should be emphasized in hereditary medullary thyroid carcinoma. 29779869 2018
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease BEFREE Interestingly, one patient had also a pheochromocytoma suggesting a possible pathogenetic role of this variant in the genesis of MEN2A. 30072953 2018
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease BEFREE We describe a patient with homozygous RET K666N mutation with MTC and bilateral pheochromocytoma (PHEO). 29408964 2018
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease BEFREE Besides RET and HRAS, FGFR1 is only the third protooncogene found to be recurrently mutated in pheochromocytomas. 29159601 2018
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease 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
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease BEFREE Hereditary Medullary Thyroid Carcinoma is caused by RET mutations, and may be associated to Pheochromocytomas in MEN 2 setting. 28455835 2017
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease BEFREE We also identified several neutral variants within RET and pheochromocytoma-related genes. 28569245 2017
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 Biomarker disease BEFREE One patient with/MEN2A underwent bilateral resection of pheochromocytomas in two stages. 29518759 2017
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease BEFREE We generated induced pluripotent stem cells (iPSCs) from a patient with RET mutation at codon 918 who developed pheochromocytoma and MTC. 28925363 2017
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease BEFREE Multiple endocrine neoplasia type 2A (MEN2A) is a condition with inherited autosomal dominant mutations in RET (rearranged during transfection) gene that predisposes the carrier to extremely high risk of medullary thyroid cancer (MTC) and other MEN2A-associated tumors such as parathyroid cancer and/or pheochromocytoma. 28099363 2017
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease BEFREE Patients with MEN2A caused by a D631Y RET mutation most commonly present with pheochromocytomas. 28747092 2017
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease BEFREE Phaeochromocytoma was diagnosed in 85/309 patients with RET mutations in the following exons (phaeos/all carriers, %): exon 11 (56/120, 46.6%); exon 16 (7/17, 41.2%), exon 10 (14/47, 29.8%), and exon 13-15 (2/116, 1.7%). 28605116 2017
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease 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
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease BEFREE RET germline mutations cause multiple endocrine neoplasia type 2 syndrome (MEN 2A) characterized by complete penetrance of medullary thyroid cancer (MTC), and lower prevalence of Pheo and hyperparathyroidism. 26497911 2016
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease BEFREE Phaeochromocytoma developed in 41 patients (18% of all RET proto-oncogene mutations carriers). 26884116 2016
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease BEFREE This study aimed to determine the mutation underlying MEN2A in a female patient diagnosed with bilateral pheochromocytoma at age 31 years and with medullary thyroid carcinoma (MTC) 6 years later. 26765577 2016
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease BEFREE Rarely, patients present with typical physical features of MEN2B but without associated endocrinopathies (medullary thyroid carcinoma or pheochromocytoma) or a RET gene mutation; this clinical presentation is thought to represent a distinct condition termed 'pure mucosal neuroma syndrome'. 26708403 2016
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease BEFREE A later diagnosis revealed bilateral pheochromocytoma and RET proto-oncogene mutation in codon 634. 26457501 2015
CUI: C0031511
Disease: Pheochromocytoma
Pheochromocytoma
1.000 GeneticVariation disease BEFREE Bilateral Pheochromocytomas in MEN2A Syndrome: A Two-Institution Experience. 26071011 2015