ArticleOncogene1999
Over-representation of a germline RET sequence variant in patients with sporadic medullary thyroid carcinoma and somatic RET codon 918 mutation.
Article in Oncogene, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers, 3 of them syntheses that pooled it.
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Who cites it
33 citing papers in PubMed, 3 syntheses or guidelines pooled it, 141 citations in OpenAlex.
- 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
- Quantitative assessment of the association between L769L and S836S polymorphisms at RET gene and medullary thyroid carcinoma risk.Tumour biology : the journal of the International Society for Oncodevelopmental Biology and Medicine · 2014Pooled it
- RET polymorphisms and sporadic medullary thyroid carcinoma in a Portuguese population.Endocrine · 2005Pooled it
- Modifier Role of CommonInternational journal of molecular sciences · 2021Trial
- Molecular Basis and Natural History of Medullary Thyroid Cancer: It is (Almost) All in theCancers · 2023Review
- Cancer-Related Somatic Mutations in Transmembrane Helices Alter Adenosine A1 Receptor Pharmacology.Molecules (Basel, Switzerland) · 2022Article
- Current status of the prognostic molecular markers in medullary thyroid carcinoma.Endocrine connections · 2020Review
- Review
- Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing.Journal of biosciences · 2017Article
- A cohort study on 10-year survival of sporadic medullary thyroid carcinoma with somatic RET mutation.The Kaohsiung journal of medical sciences · 2016Article
- Effect of 3'UTR RET Variants on RET mRNA Secondary Structure and Disease Presentation in Medullary Thyroid Carcinoma.PloS one · 2016Article
- Advanced medullary thyroid cancer: pathophysiology and management.Cancer management and research · 2013Article
- 2012 European thyroid association guidelines for genetic testing and its clinical consequences in medullary thyroid cancer.European thyroid journal · 2013Article
- The methionine-aromatic motif plays a unique role in stabilizing protein structure.The Journal of biological chemistry · 2012Article
- Over-representation of the G12S polymorphism of the SDHD gene in patients with MEN2A syndrome.Clinics (Sao Paulo, Brazil) · 2012Article
- Molecular basis of medullary thyroid carcinoma: the role of RET polymorphisms.International journal of molecular sciences · 2012Review
- RET proto-oncogene mutations are restricted to codon 618 in Cypriot families with multiple endocrine neoplasia 2.Journal of endocrinological investigation · 2011Article
- The frequency of selected polymorphic variants of the RET gene in patients with medullary thyroid carcinoma and in the general population of central Poland.Endocrine pathology · 2010Article
- Thyroid cancer: emerging role for targeted therapies.Therapeutic advances in medical oncology · 2010Article
- Significance of the RET proto-oncogene polymorphisms in Turkish sporadic medullary thyroid carcinoma patients.Journal of endocrinological investigation · 2006Article
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aetiology of sporadic medullary thyroid carcinoma is unknown. About 50% harbour a somatic mutation at codon 918 of RET (M918T). To investigate whether other RET sequence variants may be associated with or predispose to the development of sporadic medullary thyroid carcinoma, we analysed genomic DNA from the germline and corresponding tumour from 50 patients to identify RET sequence variants. In one patient, tumour DNA showed a novel somatic 12 bp in-frame deletion in exon 15. More interestingly, we found that the rare polymorphism at codon 836 (c.2439C > T; S836S) occurred at a significantly higher frequency than that in control individuals without sporadic medullary thyroid carcinoma (Fisher's exact test, P = 0.03). Further, among the nine evaluable cases with germline c.2439C/T, eight also had the somatic M918T mutation in MTC DNA which was more frequent than in patients with the more common c.2439C/C (89% vs 40%, respectively; Fisher's exact test, P = 0.01). These findings suggest that the rare sequence variant at codon 836 may somehow play a role in the genesis of sporadic medullary thyroid carcinoma.
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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.