Investigating the expression and promoter methylation of RET gene in patients with medullary thyroid cancer with unmutated RET

2019 ◽  
Vol 234 (9) ◽  
pp. 16304-16311 ◽  
Author(s):  
Elham Shakiba ◽  
Monireh Movahedi ◽  
Ahmad Majd ◽  
Mehdi Hedayati
Keyword(s):  
Thyroid Cancer ◽  
Promoter Methylation ◽  
Medullary Thyroid Cancer ◽  
Medullary Thyroid ◽  
Ret Gene

Extended RET Gene Analysis in Patients with Apparently Sporadic Medullary Thyroid Cancer: Clinical Benefits and Cost

2012 ◽  
Vol 3 (4) ◽  
pp. 181-186 ◽  
Author(s):  
Susan C. Lindsey ◽  
Ilda S. Kunii ◽  
Fausto Germano-Neto ◽  
Misaki Y. Sittoni ◽  
Cléber P. Camacho ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Medullary Thyroid Cancer ◽  
Gene Analysis ◽  
Medullary Thyroid ◽  
Ret Gene ◽  
Clinical Benefits

RET gene mutation analysis and long-term clinical outcomes of medullary thyroid cancer patients

2020 ◽  
Vol 41 (11) ◽  
pp. 1136-1142
Author(s):  
Meghana Prabhu ◽  
Sunil Shakya ◽  
Sanjana Ballal ◽  
Shamim Ahmed Shamim ◽  
Chandrasekhar Bal
Keyword(s):  
Thyroid Cancer ◽  
Cancer Patients ◽  
Clinical Outcomes ◽  
Gene Mutation ◽  
Mutation Analysis ◽  
Medullary Thyroid Cancer ◽  
Medullary Thyroid ◽  
Ret Gene ◽  
Gene Mutation Analysis

scholarly journals The origin of patients with inherited medullary thyroid cancer, who are carriers of the rare exon 8 mutation (G533C) of the RET gene in Greece

2016 ◽  
Author(s):  
Katerina Saltiki ◽  
Elli Anagnostou ◽  
Anastasia Angelopoulou ◽  
Sofia Kouki ◽  
Michail Apostolakis ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Medullary Thyroid Cancer ◽  
Medullary Thyroid ◽  
Ret Gene

scholarly journals Erratum: Corrigendum: Differences in the transcriptome of medullary thyroid cancer regarding the status and type of RET gene mutations

2017 ◽  
Vol 7 (1) ◽  
Author(s):  
Malgorzata Oczko-Wojciechowska ◽  
Michal Swierniak ◽  
Jolanta Krajewska ◽  
Malgorzata Kowalska ◽  
Monika Kowal ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Medullary Thyroid Cancer ◽  
Gene Mutations ◽  
Medullary Thyroid ◽  
Ret Gene ◽  
The Status

Analysis of RET Gene Point Mutation in a Family with Familial Medullary Thyroid Cancer

2004 ◽  
Vol 131 (2) ◽  
pp. P274-P274
Author(s):  
Kang Dae Lee ◽  
Hyo Sung Mun ◽  
Shiro Noguchi
Keyword(s):  
Thyroid Cancer ◽  
Point Mutation ◽  
Medullary Thyroid Cancer ◽  
Medullary Thyroid ◽  
Ret Gene

scholarly journals RET Copy Number Alteration in Medullary Thyroid Cancer Is a Rare Event Correlated with RET Somatic Mutations and High Allelic Frequency

Genes ◽  
2020 ◽  
Vol 12 (1) ◽  
pp. 35
Author(s):  
Teresa Ramone ◽  
Chiara Mulè ◽  
Raffaele Ciampi ◽  
Valeria Bottici ◽  
Virginia Cappagli ◽  
...  
Keyword(s):  
Thyroid Cancer ◽  
Copy Number ◽  
Medullary Thyroid Cancer ◽  
Rare Event ◽  
Copy Number Variations ◽  
Allelic Frequency ◽  
Medullary Thyroid ◽  
Ret Gene ◽  
Significant Difference

Copy number variations (CNV) of the RET gene have been described in 30% of Medullary Thyroid Cancer (MTC), but no information is available about their role in this tumor. This study was designed to clarify RET gene CNV prevalence and their potential role in MTC development. RET gene CNV were analyzed in 158 sporadic MTC cases using the ION Reporter Software (i.e., in silico analysis) while the multiplex ligation-dependent probe amplification assay (i.e., in vitro analysis) technique was performed in 78 MTC cases. We identified three categories of RET ploidy: 137 in 158 (86.7%) cases were diploid and 21 in 158 (13.3%) were aneuploid. Among the aneuploid cases, five out of 21 (23.8%) showed an allelic deletion while 16 out of 21 (76.2%) had an allelic amplification. The prevalence of amplified or deleted RET gene cases (aneuploid) was higher in RET positive tumors. Aneuploid cases also showed a higher allelic frequency of the RET driver mutation. The prevalence of patients with metastatic disease was higher in the group of aneuploid cases while the higher prevalence of disease-free patients was observed in diploid tumors. A statistically significant difference was found when comparing the ploidy status and mortality. RET gene CNVs are rare events in sporadic MTC and are associated with RET somatic mutation, suggesting that they could not be a driver mechanism of tumoral transformation per se. Finally, we found a positive correlation between RET gene CNV and a worse clinical outcome.

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