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
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
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
Multiple Endocrine Neoplasia Type 2b
1.000 Biomarker 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
Multiple Endocrine Neoplasia Type 2b
1.000 GeneticVariation disease BEFREE The objectives of this study are to describe the rare M918V RET mutation discovered in 8 MTC kindreds from Brazil lacking the MEN 2B phenotype classically observed in M918T patients and to investigate the presence of a founder effect for this germline mutation. 27807060 2016
Multiple Endocrine Neoplasia Type 2b
1.000 Biomarker disease BEFREE The MEN2A and MEN2B syndromes are due to activating mutations in the proto-oncogene RET (Rearranged in Transfection) and are characterized by different phenotypic features of the affected patients. 26184857 2016
Multiple Endocrine Neoplasia Type 2b
1.000 GeneticVariation disease BEFREE These autosomal dominant conditions occur in four types: MEN1 due to inactivating MEN1 mutations; MEN2A and MEN2B (MEN3) due to activating mutations of RET and MEN4 due to inactivating cyclin-dependent kinase inhibitor 1B (CDKN1B) mutations. 24931355 2014
Multiple Endocrine Neoplasia Type 2b
1.000 GeneticVariation disease BEFREE Forty-four MEN 2B patients carrying inherited (3 patients) and de novo (41 patients) M918T RET mutations were examined for signs and symptoms prompting MEN 2B. 23979292 2014
Multiple Endocrine Neoplasia Type 2b
1.000 Biomarker disease GENOMICS_ENGLAND Diagnosis of asymptomatic primary hyperparathyroidism: proceedings of the Fourth International Workshop. 25162666 2014
Multiple Endocrine Neoplasia Type 2b
1.000 Biomarker disease GENOMICS_ENGLAND ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. 23788249 2013
Multiple Endocrine Neoplasia Type 2b
1.000 GeneticVariation disease BEFREE We describe a novel combination of tandem RET mutations (Q781R/V804M) in a MEN2B-like patient. 23468374 2013
Multiple Endocrine Neoplasia Type 2b
1.000 Biomarker disease BEFREE Since RET function in mouse spermatogonial stem cells has been extensively studied, we are able to suggest that the MEN2B mutation provides a selective advantage by altering the PI3K/AKT and SFK signaling pathways. 22359510 2012
Multiple Endocrine Neoplasia Type 2b
1.000 CausalMutation disease CLINVAR Medullary thyroid cancer in a 9-week-old infant with familial MEN 2B: Implications for timing of prophylactic thyroidectomy. 22992277 2012
Multiple Endocrine Neoplasia Type 2b
1.000 CausalMutation disease CLINVAR Multiple endocrine neoplasia type 2B with a RET proto-oncogene A883F mutation displays a more indolent form of medullary thyroid carcinoma compared with a RET M918T mutation. 21186952 2011
Multiple Endocrine Neoplasia Type 2b
1.000 CausalMutation disease CLINVAR Risk profiles and penetrance estimations in multiple endocrine neoplasia type 2A caused by germline RET mutations located in exon 10. 20979234 2011
Multiple Endocrine Neoplasia Type 2b
1.000 GeneticVariation disease CLINVAR Familial pediatric endocrine tumors. 21934104 2011
Multiple Endocrine Neoplasia Type 2b
1.000 GeneticVariation disease BEFREE The aim of this work was to develop a single oligoarray by using tandem hybridization to detect the T918C/RET mutation for MEN 2B patients. 21253810 2011
Multiple Endocrine Neoplasia Type 2b
1.000 GeneticVariation disease BEFREE We present the clinical data for a family with MEN-2B associated with RET-A883F mutation. 21186952 2011
Multiple Endocrine Neoplasia Type 2b
1.000 GermlineCausalMutation disease ORPHANET Multiple endocrine neoplasia type 2. 20833330 2010
Multiple Endocrine Neoplasia Type 2b
1.000 CausalMutation disease CLINVAR The North American Neuroendocrine Tumor Society consensus guideline for the diagnosis and management of neuroendocrine tumors: pheochromocytoma, paraganglioma, and medullary thyroid cancer. 20664475 2010