ArticleJournal of endocrinological investigation2013
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.
Article in Journal of endocrinological investigation, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.Thyroid : official journal of the American Thyroid Association · 2015Guideline
- Modeling the Effects of Single Nucleotide Polymorphisms (SNPs) on the Structure and Function of the HumanHuman mutation · 2026Article
- Proposed framework for triage of putative germline variants detected via tumour genomic testing in UK oncology practice.Journal of medical genetics · 2025Article
- RET Proto-Oncogene Variants in Patients with Medullary Thyroid Carcinoma from the Mediterranean Basin: A Brief Report.Life (Basel, Switzerland) · 2023Article
- Current status of the prognostic molecular markers in medullary thyroid carcinoma.Endocrine connections · 2020Review
- The synergy of germline C634Y and V292M RET mutations in a northern Chinese family with multiple endocrine neoplasia type 2A.Journal of cellular and molecular medicine · 2020Article
- Retroposed copies of RET gene: a somatically acquired event in medullary thyroid carcinoma.BMC medical genomics · 2019Article
- Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study.Endocrine connections · 2019Article
- Multiple Endocrine Neoplasia Syndromes from Genetic and Epigenetic Perspectives.Biomarker insights · 2018Review
- Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility.Endocrine-related cancer · 2015Article
- RET revisited: expanding the oncogenic portfolio.Nature reviews. Cancer · 2014Review
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10 authors.
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Abstract
backgroundWe previously identified a four-generation family with medullary thyroid cancer (MTC) and a germline p.Y791F RET mutation whose cancer lacked a strong genotype-phenotype correlation. The entire gene coding region of the RET gene should be sequenced when genotype-phenotype discrepancies are observed in patients with multiple endocrine neoplasia type 2 (MEN 2), even if a RET hotspot mutation has been identified.
methodsA new genetic test was performed in the index case of this family with the p.Y791F RET germline mutation. The entire coding region of the RET gene was investigated by direct sequencing of PCR products. Once a mutation was identified, the target exon was sequenced in all at-risk relatives.
resultsAn additional p.C634Y germline mutation in the RET gene was identified in the reported family. The double mutation occurred in cis and segregated with the phenotype. Through the Brazilian Genetic Screening Program developed at our institution, we additionally report the combination of these two mutations (p.C634Y/p.Y791F) in the RET gene in four other unrelated families. The overall penetrance of MTC and pheochromocytoma in patients with the p.C634Y/p.Y791F mutations was 79% and 13%, respectively.
conclusionOur data emphasises that a comprehensive analysis of the RET gene may reveal multiple germline mutations in MEN 2 patients who exhibit an atypical clinical course of the disease.
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