ArticleThe Journal of clinical endocrinology and metabolism2013
Exomic sequencing of medullary thyroid cancer reveals dominant and mutually exclusive oncogenic mutations in RET and RAS.
Article in The Journal of clinical endocrinology and metabolism, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 124 papers, 3 of them syntheses that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
124 citing papers in PubMed, 3 syntheses or guidelines pooled it, 250 citations in OpenAlex.
- EANM practice guideline for PET/CT imaging in medullary thyroid carcinoma.European journal of nuclear medicine and molecular imaging · 2020Guideline
- Genetic risk association of CDKN1A and RET gene SNPs with medullary thyroid carcinoma: Results from the largest MTC cohort and meta-analysis.Cancer medicine · 2019Pooled it
- Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.Thyroid : official journal of the American Thyroid Association · 2015Guideline
- Overall survival analysis of EXAM, a phase III trial of cabozantinib in patients with radiographically progressive medullary thyroid carcinoma.Annals of oncology : official journal of the European Society for Medical Oncology · 2017Trial
- Mutation of NRAS but not KRAS significantly reduces myeloma sensitivity to single-agent bortezomib therapy.Blood · 2014Trial
- Immunohistochemical expression of Ki-67, INSM1, and SSTR2A in medullary thyroid carcinoma: correlation with tumour size, vascular invasion, and biochemical outcome.Virchows Archiv : an international journal of pathology · 2026Article
- Somatic genomic profiling reveals clinically relevant heterogeneity inJournal of clinical & translational endocrinology · 2026Article
- Immunotherapy in Thyroid Cancer: Current Strategies and Challenges.Cancer medicine · 2026Review
- Comprehensive Transcriptome Profiling of Sporadic Medullary Thyroid Carcinomas.Scientific data · 2026Article
- Ectopic ACTH Production in Medullary Thyroid Carcinoma-A Study of Two Cases.Case reports in endocrinology · 2026Article
- Incidental thyroid carcinoma in surgically treated multinodular goiter: a retrospective study.Frontiers in surgery · 2026Article
- Emerging liquid biopsy markers in thyroid cancer: from isolation technologies to clinical translation.Frontiers in endocrinology · 2026Review
- Precision management of medullary thyroid carcinoma: a dynamic framework integrating biomarkers, genotyping, and risk stratification.Frontiers in endocrinology · 2026Review
- How to manage medullary thyroid carcinoma: current treatment strategies.Drugs in context · 2026Review
- Metabolomics-Based Diagnosis of Medullary Thyroid Cancer: A Plasma 1H NMR Approach.Iranian journal of public health · 2025Article
- Next-Generation Sequencing Reveals the Potential Role of RET Protooncogene in Metastasis Progression in Medullary Thyroid Cancer.Current issues in molecular biology · 2025Article
- Epidemiology, Clinical Presentation, and Diagnosis of Medullary Thyroid Carcinoma.Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer · 2025Review
- Thyroid C-Cell Biology and Oncogenic Transformation.Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer · 2025Review
- Overview of management and therapeutic advances in medullary thyroid cancer.Endocrine oncology (Bristol, England) · 2025Review
- Systemic Therapies for Advanced Medullary Thyroid Carcinoma.Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer · 2025Review
64 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
28 authors at 8 institutions in 4 countries.
Funding
Abstract
contextMedullary thyroid cancer (MTC) is a rare thyroid cancer that can occur sporadically or as part of a hereditary syndrome.
objectiveTo explore the genetic origin of MTC, we sequenced the protein coding exons of approximately 21,000 genes in 17 sporadic MTCs. PATIENTS AND
designWe sequenced the exomes of 17 sporadic MTCs and validated the frequency of all recurrently mutated genes and other genes of interest in an independent cohort of 40 MTCs comprised of both sporadic and hereditary MTC.
resultsWe discovered 305 high-confidence mutations in the 17 sporadic MTCs in the discovery phase, or approximately 17.9 somatic mutations per tumor. Mutations in RET, HRAS, and KRAS genes were identified as the principal driver mutations in MTC. All of the other additional somatic mutations, including mutations in spliceosome and DNA repair pathways, were not recurrent in additional tumors. Tumors without RET, HRAS, or KRAS mutations appeared to have significantly fewer mutations overall in protein coding exons.
conclusionsApproximately 90% of MTCs had mutually exclusive mutations in RET, HRAS, and KRAS, suggesting that RET and RAS are the predominant driver pathways in MTC. Relatively few mutations overall and no commonly recurrent driver mutations other than RET, HRAS, and KRAS were seen in the MTC exome.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.