ArticleThe Journal of clinical endocrinology and metabolism2012
Somatic RAS mutations occur in a large proportion of sporadic RET-negative medullary thyroid carcinomas and extend to a previously unidentified exon.
Article in The Journal of clinical endocrinology and metabolism, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 71 papers, 3 of them syntheses that pooled it.
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Who cites it
71 citing papers in PubMed, 3 syntheses or guidelines pooled it, 149 citations in OpenAlex.
- EANM practice guideline for PET/CT imaging in medullary thyroid carcinoma.European journal of nuclear medicine and molecular imaging · 2020Guideline
- Revised American Thyroid Association guidelines for the management of medullary thyroid carcinoma.Thyroid : official journal of the American Thyroid Association · 2015Guideline
- Sorafenib in metastatic thyroid cancer: a systematic review.The oncologist · 2014Pooled it
- 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
- Metastatic Medullary Thyroid Carcinoma Without Identifiable Primary Tumor Within the Thyroid Gland, Presenting with Initial Lymph Node Metastasis Followed by Distant Peritoneal Metastasis: A Case Report of a Rare Phenomenon.Journal of clinical medicine · 2026Article
- Comparative genomic and clinicopathological analysis uncovers contrasting molecular profiles of canine and human thyroid carcinomas.Communications biology · 2025Article
- Review
- Somatic genetic alterations in the development and progression in thyroid tumors of follicular cells.European thyroid journal · 2025Review
- Effect of Hemoglobin, Albumin, Lymphocyte Count, and Platelet (HALP) Score on Survival of Patients with Metastatic Thyroid Cancer Treated with Tyrosine Kinase Inhibitors.Journal of clinical medicine · 2025Article
- 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
- Thyroid C-Cell Biology and Oncogenic Transformation.Recent results in cancer research. Fortschritte der Krebsforschung. Progres dans les recherches sur le cancer · 2025Review
- The Potential Utility of RAS Q61R Immunohistochemistry as a Screening Tool in Pre-operative Fine Needle Aspirates of Medullary Thyroid Carcinoma.Endocrine pathology · 2024Article
- Molecular genetics, therapeutics and RET inhibitor resistance for medullary thyroid carcinoma and future perspectives.Cell communication and signaling : CCS · 2024Review
- Pediatric Medullary Thyroid Carcinoma: Clinical Presentations and Long-Term Outcomes in 144 Patients Over 6 Decades.The Journal of clinical endocrinology and metabolism · 2024Article
- Not OnlyJournal of the Endocrine Society · 2024Article
- Medullary Thyroid Cancer: Epidemiology and Characteristics According to Data From the Marne-Ardennes Register 1975-2018.Journal of the Endocrine Society · 2024Article
- 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
- RET splice site variants in medullary thyroid carcinoma.Frontiers in genetics · 2024Article
- Molecular Basis and Natural History of Medullary Thyroid Cancer: It is (Almost) All in theCancers · 2023Review
11 more citing papers are in PubMed but not listed here.
Corrections and comments
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Authors and funding
9 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
contextMedullary thyroid carcinoma (MTC) is characterized by proto-oncogene RET mutations in almost all hereditary cases as well as in more than 40% of sporadic cases. Recently, a high prevalence of RAS mutations was reported in sporadic MTC, suggesting an alternative genetic event in sporadic MTC tumorigenesis.
objectiveThis study aimed to extend this observation by screening somatic mutational status of RET, BRAF, and the three RAS proto-oncogenes in a large series of patients with MTC. MATERIALS AND
methodsDirect sequencing of RET (exons 8, 10, 11, 13, 14, 15, 16), BRAF (exons 11 and 15), and KRAS, HRAS, and NRAS genes (exons 2, 3, and 4) was performed on DNA prepared from 50 MTC samples, including 30 sporadic cases.
resultsActivating RET mutations were detected in the 20 hereditary cases (germline mutations) and in 14 sporadic cases (somatic mutations). Among the 16 sporadic MTC without any RET mutation, eight H-RAS mutations and five K-RAS mutations were found. Interestingly, nine RAS mutations correspond to mutation hot spots in exons 2 and 3, but the other four mutations were detected in exon 4. The RET and RAS mutations were mutually exclusive. No RAS gene mutation was found in hereditary MTC, and no BRAF or NRAS mutation was observed in any of the 50 samples.
conclusionsOur study confirms that RAS mutations are frequent events in sporadic MTC. Moreover, we showed that RAS mutation analysis should not be limited to the classical mutational hot spots of RAS genes and should include analysis of exon 4.
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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.