ArticleEndocrine2009
RET mutation Tyr791Phe: the genetic cause of different diseases derived from neural crest.
Article in Endocrine, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers, 1 of them a synthesis that pooled it.
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Who cites it
13 citing papers in PubMed, 1 synthesis or guideline pooled it, 26 citations in OpenAlex.
- The association between Hirschsprung's disease and multiple endocrine neoplasia type 2a: a systematic review.Pediatric surgery international · 2014Pooled it
- Proteomic Analysis Provides a New Sight Into the CRABP1 Expression in the Pathogenesis of Hirschsprung Disease.Biochemical genetics · 2025Article
- Hereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer · 2025Review
- Incidence of medullary thyroid carcinoma and Hirschsprung disease based on the cosmos database.Pediatric surgery international · 2023Article
- Identification of Human Enzymes Oxidizing the Anti-Thyroid-Cancer Drug Vandetanib and Explanation of the High Efficiency of Cytochrome P450 3A4 in its Oxidation.International journal of molecular sciences · 2019Article
- Prevalence by age and predictors of medullary thyroid cancer in patients with lower risk germline RET proto-oncogene mutations.Thyroid : official journal of the American Thyroid Association · 2014Article
- Integrative genetic characterization and phenotype correlations in pheochromocytoma and paraganglioma tumours.PloS one · 2014Article
- Comprehensive analysis of RET gene should be performed in patients with multiple endocrine neoplasia type 2 (MEN 2) syndrome and no apparent genotype-phenotype correlation: an appraisal of p.Y791F and p.C634Y RET mutations in five unrelated Brazilian families.Journal of endocrinological investigation · 2013Article
- Next-generation sequencing in the clinical genetic screening of patients with pheochromocytoma and paraganglioma.Endocrine connections · 2013Article
- Hirschsprung's disease and medullary thyroid carcinoma: 15-year experience with molecular genetic screening of the RET proto-oncogene.Pediatric surgery international · 2012Article
- Candidate gene analysis in israeli soldiers with stress fractures.Journal of sports science & medicine · 2012Article
- Genotype-phenotype correlation in multiple endocrine neoplasia type 2.Clinics (Sao Paulo, Brazil) · 2012Review
- Molecular mechanisms of RET receptor-mediated oncogenesis in multiple endocrine neoplasia 2.Clinics (Sao Paulo, Brazil) · 2012Review
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Authors and funding
9 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Activating germline RET mutations are presented in patients with familial medullary thyroid carcinoma (FMTC) and multiple endocrine neoplasia (MEN) types 2A and 2B, whereas inactivating germline mutations in patients with Hirschsprung's disease (HSCR). The aim of this study was to evaluate genotype-phenotype correlations of the frequently discussed Tyr791Phe mutation in exon 13 of the RET proto-oncogene. Screening of three groups of patients was performed (276 families with medullary thyroid carcinoma (MTC), 122 families with HSCR, and 29 patients with pheochromocytoma). We found this mutation in 3 families with apparently sporadic MTC, 3 families with FMTC/MEN2, 1 patient with pheochromocytoma, and 3 families with HSCR. All gene mutation carriers have a silent polymorphism Leu769Leu in exon 13. In three families second germline mutations were detected: Cys620Phe (exon 10) in MEN2A family, Met918Thr (exon 16) in MEN2B family, and Ser649Leu (exon 11) in HSCR patient. Detection of the Tyr791Phe mutation in MEN2/MTC and also in HSCR families leads to the question whether this mutation has a dual character (gain-of-function as well as loss-of-function). A rare case of malignant pheochromocytoma in a patient with the Tyr791Phe mutation is presented. This study shows various clinical characteristics of the frequently discussed Tyr791Phe mutation.
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