ArticleThyroid : official journal of the American Thyroid Association2017
Distribution of RET Mutations in Multiple Endocrine Neoplasia 2 in Denmark 1994-2014: A Nationwide Study.
Article in Thyroid : official journal of the American Thyroid Association, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed.
- Review
- MEN2: surgical precision in the era of precision medicine.Endocrine-related cancer · 2025Review
- Article
- Article
- Clinical features and signaling effects of RET D631Y variant multiple endocrine neoplasia type 2 (MEN2).The Korean journal of internal medicine · 2022Article
- Crude annual incidence rate of medullary thyroid cancer and RET mutation frequency.Croatian medical journal · 2021Article
- MEN2-related pheochromocytoma: current state of knowledge, specific characteristics in MEN2B, and perspectives.Endocrine · 2020Review
- Primary hyperparathyroidism as first manifestation in multiple endocrine neoplasia type 2A: an international multicenter study.Endocrine connections · 2020Article
- Variability in Medullary Thyroid Carcinoma inFrontiers in endocrinology · 2020Article
- Genotype and phenotype landscape of MEN2 in 554 medullary thyroid cancer patients: the BrasMEN study.Endocrine connections · 2019Article
- Survival and Long-Term Biochemical Cure in Medullary Thyroid Carcinoma in Denmark 1997-2014: A Nationwide Study.Thyroid : official journal of the American Thyroid Association · 2019Article
- Replication of newly proposed TNM staging system for medullary thyroid carcinoma: a nationwide study.Endocrine connections · 2019Article
- Completeness ofClinical epidemiology · 2019Article
- p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.The Journal of clinical endocrinology and metabolism · 2018Article
- The RET C611Y mutation causes MEN 2A and associated cutaneousEndocrine connections · 2018Article
- Incidence and prevalence of sporadic and hereditary MTC in Denmark 1960-2014: a nationwide study.Endocrine connections · 2018Article
- Incidence and prevalence of multiple endocrine neoplasia 2A in Denmark 1901-2014: a nationwide study.Clinical epidemiology · 2018Article
- Familial MTC withEndocrine connections · 2017Article
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14 authors.
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Abstract
backgroundGermline mutations of the REarranged during Transfection (RET) proto-oncogene cause multiple endocrine neoplasia 2 (MEN2). It is unclear whether the distribution of RET mutations varies among populations. The first nationwide study of the distribution of RET mutations was conducted, and the results were compared to those of other populations.
methodsThis retrospective cohort study included 1583 patients who underwent RET gene testing in one of three centers covering all of Denmark between September 1994 and December 2014. Primary testing method was Sanger sequencing, which included exons 8-11 and 13-16. Mutations were defined according to the ARUP database July 1, 2016.
resultsRET mutations were identified in 163 patients from 36 apparently unrelated families. Among the 36 families 13 (36.1%) carried mutations in codon 611, four (11.1%) in codon 618, three (8.3%) in codon 620, one (2.8%) in codon 631, six (16.7%) in codon 634, one (2.8%) in codon 790, one (2.8%) in codon 804, one (2.8%) in codon 852, one (2.8%) in codon 883, and five (13.9%) in codon 918. Among the 13 families with codon 611 mutations, 12 had the p.C611Y mutation.
conclusionsThe distribution of RET mutations in Denmark appears to differ from that of other populations. Mutations in codon 611 were the most prevalent, followed by more frequently reported mutations. This might be due to a possible founder effect for the p.C611Y mutation. However, further studies are needed to find possible explanations for the skewed mutational spectrum in Denmark.
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