ArticleEndocrine connections2019
Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study.
Article in Endocrine connections, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
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Who cites it
22 citing papers in PubMed, 42 citations in OpenAlex.
- Systematic structure-based analysis of RET variants in MEN2A and Hirschsprung's disease, and the paradoxical co-occurrence of both conditions.Disease models & mechanisms · 2026Article
- Review
- Optimal timing of early thyroidectomy in young patients with MEN2A and its impact on disease outcome.Endocrine · 2025Observational
- Spatial immune profiling reveals distinct microenvironments in medullary thyroid carcinoma.Frontiers in immunology · 2025Article
- Hereditary Medullary Thyroid Cancer: Genotype-Phenotype Correlation.Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer · 2025Review
- DLK1 Is Associated with Stemness Phenotype in Medullary Thyroid Carcinoma Cell Lines.International journal of molecular sciences · 2024Article
- A Case of Cushing's Disease and a RET Pathogenic Variant: Exploring Possible Rare Associations.Cureus · 2024Article
- Article
- Association of the Genomic Profile of Medullary Thyroid Carcinoma with Tumor Characteristics and Clinical Outcomes in an International Multicenter Study.Thyroid : official journal of the American Thyroid Association · 2024Article
- Clinical characteristics of a large familial cohort with Medullary thyroid cancer and germline Cys618ArgFrontiers in endocrinology · 2023Article
- Germline genetic variants in pheochromocytoma/paraganglioma: single-center experience.Endocrine oncology (Bristol, England) · 2023Article
- Medullary Thyroid Carcinoma and Associated Endocrinopathies in Slovenia from 1995 to 2021.Life (Basel, Switzerland) · 2022Article
- Review
- Early postoperative calcitonin-to-preoperative calcitonin ratio as a predictive marker for structural recurrence in sporadic medullary thyroid cancer: A retrospective study.Frontiers in endocrinology · 2022Article
- Case Report: Composite pheochromocytoma with ganglioneuroma component: A report of three cases.Frontiers in endocrinology · 2022Article
- Hereditary Medullary Thyroid Carcinoma: Genotype, Phenotype and Outcomes in a North Indian Cohort.World journal of surgery · 2021Article
- Spectrum of Germline RET variants identified by targeted sequencing and associated Multiple Endocrine Neoplasia type 2 susceptibility in China.BMC cancer · 2021Article
- Article
- Germline Pathogenic Variants Identified by Targeted Next-Generation Sequencing of Susceptibility Genes in Pheochromocytoma and Paraganglioma.Journal of kidney cancer and VHL · 2021Article
- Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.Endocrine connections · 2020Article
Corrections and comments
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Authors and funding
46 authors at 18 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Multiple endocrine neoplasia type 2 (MEN2) is an autosomal dominant genetic disease caused by RET gene germline mutations that is characterized by medullary thyroid carcinoma (MTC) associated with other endocrine tumors. Several reports have demonstrated that the RET mutation profile may vary according to the geographical area. In this study, we collected clinical and molecular data from 554 patients with surgically confirmed MTC from 176 families with MEN2 in 18 different Brazilian centers to compare the type and prevalence of RET mutations with those from other countries. The most frequent mutations, classified by the number of families affected, occur in codon 634, exon 11 (76 families), followed by codon 918, exon 16 (34 families: 26 with M918T and 8 with M918V) and codon 804, exon 14 (22 families: 15 with V804M and 7 with V804L). When compared with other major published series from Europe, there are several similarities and some differences. While the mutations in codons C618, C620, C630, E768 and S891 present a similar prevalence, some mutations have a lower prevalence in Brazil, and others are found mainly in Brazil (G533C and M918V). These results reflect the singular proportion of European, Amerindian and African ancestries in the Brazilian mosaic genome.
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