The Role of TSHR, PTEN and RASSF1A Promoters’ Methylation Status for Non-Invasive Detection of Papillary Thyroid Carcinoma

Klimaite, Raimonda; Kazokaitė, Mintautė; Kondrotienė, Aistė; Daukšienė, Dalia; Sabaliauskaitė, Rasa; Žukauskaitė, Kristina; Žilaitienė, Birutė; Jarmalaitė, Sonata; Daukša, Albertas

doi:10.3390/jcm11164917

Cited by 3 publications

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“…DNA methylation, the most widely studied epigenetic mechanism, varies in different cancers, and is notably altered in thyroid cancer [ 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 ]. Now, the role of DNA methylation in cancer is being widely studied to determine markers that might guide treatment.…”

Section: Introductionmentioning

confidence: 99%

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Association of DNA Promoter Methylation and BRAF Mutation in Thyroid Cancer

et al. 2023

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The BRAF V600E mutation and DNA promoter methylation play important roles in the pathogenesis of thyroid cancer (TC). However, the association of these genetic and epigenetic alterations is not clear. In this study, using paired tumor and surrounding normal tissue from the same patients, on a genome-wide scale we tried to identify (a) any association between BRAF mutation and DNA promoter methylation, and (b) if the molecular findings may provide a basis for therapeutic intervention. We included 40 patients with TC (female = 28, male = 12) without distant metastasis. BRAF mutation was present in 18 cases. We identified groups of differentially methylated loci (DML) that are found in (a) both BRAF mutant and wild type, (b) only in BRAF mutant tumors, and (c) only in BRAF wild type. BRAF mutation-specific promoter loci were more frequently hypomethylated, whereas BRAF wild-type-specific loci were more frequently hypermethylated. Common DML were enriched in cancer-related pathways, including the mismatch repair pathway and Wnt-signaling pathway. Wild-type-specific DML were enriched in RAS signaling. Methylation status of checkpoint signaling genes, as well as the T-cell inflamed genes, indicated an opportunity for the potential use of PDL1 inhibitors in BRAF mutant TC. Our study shows an association between BRAF mutation and methylation in TC that may have biological significance.

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Section: Introductionmentioning

confidence: 99%

“…The BRAF V600E mutation is common in thyroid cancer [ 13 , 15 , 16 , 18 , 22 , 23 , 25 ], as is DNA methylation [ 25 , 26 , 27 , 28 , 29 , 30 , 31 , 32 ]. However, the interaction or association between them is not well-studied.…”

Section: Introductionmentioning

confidence: 99%