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
Multiple Endocrine Neoplasia Type 2b
1.000 Biomarker disease BEFREE The literature on PHEO in patients with MEN2B is limited with most data being reported from adult studies that primarily address MEN2A. 30113649 2019
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
Multiple Endocrine Neoplasia Type 2b
1.000 GeneticVariation disease BEFREE We identified seven familial and 68 de novo cases of MEN2B; 61 exhibited the RET M918T genotype (2 others exhibited A883F and E768D/L790T mutations). 29077903 2018
Multiple Endocrine Neoplasia Type 2b
1.000 GeneticVariation disease BEFREE Patients who died because of MTC had a median age of 61 years (range 21-84) and were at stages III-IV in all cases; deaths occurred in 18% of sporadic MTC, 6% of MEN2a and 66.7% of MEN2b patients. 29134313 2018
Multiple Endocrine Neoplasia Type 2b
1.000 GeneticVariation disease BEFREE We also examined the sensitivity of RET (M918T), a RET mutation prevalent in aggressive multiple endocrine neoplasia type 2B, to these TKIs in the context of BaF3/KR cells. 29908090 2018
Multiple Endocrine Neoplasia Type 2b
1.000 Biomarker disease BEFREE For example, the detection of a mutated <i>RET</i> allele in family members at risk for inheriting MEN2A or MEN2B signaled that they would develop MTC, and possibly other components of the syndromes. 29142004 2018
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
Multiple Endocrine Neoplasia Type 2b
1.000 GeneticVariation disease BEFREE This family of 11 individuals with familial MTC type of MEN 2A syndrome demonstrated the moderate risk RET p.Val804Met (protein valine at residue 804 replaced by methionine) genetic mutation, with 2 of the relatives presenting with dermal hyperneury, cutaneous lesions classically described in MEN 2B syndrome, and 1 relative also showing multiple sclerotic fibromas, a cutaneous manifestation of PTEN (phosphatase and tensin homologue) hamartoma-tumor syndrome. 29049491 2017
Multiple Endocrine Neoplasia Type 2b
1.000 CausalMutation disease CLINVAR Risk Profile of the RET A883F Germline Mutation: An International Collaborative Study. 28323957 2017
Multiple Endocrine Neoplasia Type 2b
1.000 GeneticVariation disease BEFREE Generation of an induced pluripotent stem cell line from a patient with hereditary multiple endocrine neoplasia 2B (MEN2B) syndrome with "highest risk" RET mutation. 28925363 2017
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