Genetic profiling of rat gliomas and cardiac schwannomas from life-time radiofrequency radiation exposure study using a targeted next-generation sequencing gene panel

PLoS ONE, Год журнала: 2024, Номер 19(1), С. e0296699 - e0296699

Опубликована: Янв. 17, 2024

The cancer hazard associated with lifetime exposure to radiofrequency radiation (RFR) was examined in Sprague Dawley (SD) rats at the Ramazzini Institute (RI), Italy. There were increased incidences of gliomas and cardiac schwannomas. translational relevance these rare rat tumors for human disease is poorly understood. We genetic alterations RFR-derived through molecular characterization important genes relevant gliomagenesis. A targeted next-generation sequencing (NGS) panel designed based on top 23 orthologous glioma-related genes. Single-nucleotide variants (SNVs) small insertion deletions (indels) characterized Translational determined comparison Catalogue Somatic Mutations Cancer (COSMIC) database. These data suggest that resulting from life-time RFR histologically resemble low grade but surprisingly no mutations detected had homology IDH1 p.R132 or IDH2 p.R172 suggesting are primarily wild-type IDH hotspot implicated gliomas. appear share some wildtype schwannomas also harbor queried demonstrate NGS panels tumor specific driver an tool examine rodent chronic/life-time bioassays.

Язык: Английский

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Prevalence of TERT Promoter Mutations in Orbital Solitary Fibrous Tumors

Current Issues in Molecular Biology, Год журнала: 2024, Номер 46(2), С. 1467 - 1484

Опубликована: Фев. 10, 2024

The orbital manifestation of a solitary fibrous tumor (SFT) is exceptionally rare and poses specific challenges in diagnosis treatment. Its rather exceptional behavior among all SFTs comprises high tendency towards local recurrence, but it rarely culminates metastatic disease. This raises the question prognostic factors (oSFTs). Telomerase reverse transcriptase (TERT)-promoter mutations have previously been linked to an unfavorable prognosis other locations. We analyzed prevalence TERT promoter compartment. performed retrospective, descriptive clinico-histopathological analysis nine cases oSFTs between years 2017 2021. A mutation was present one case, which classified with intermediate risk. Local recurrence or progress occurred six after primary resection; no distant metastases were reported. Multimodal imaging repeatedly showed particular morphologic patterns, including tubular vascular structures ADC reduction. oSFT 11%, similar extra-meningeal head neck lower than that compartments. In study, manifested case prognosis, comprising aggressive growth, eye loss.

Язык: Английский

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Pan-cancer experimental characteristic of human transcriptional patterns connected with telomerase reverse transcriptase (TERT) gene expression status

Frontiers in Genetics, Год журнала: 2024, Номер 15

Опубликована: Май 27, 2024

The TERT gene encodes the reverse transcriptase subunit of telomerase and is normally transcriptionally suppressed in differentiated human cells but reactivated cancers where its expression frequently associated with poor survival prognosis. Here we experimentally assessed RNA sequencing patterns transcription 1039 cancer samples 27 tumor types. We observed a bimodal distribution ∼27% did not express rest showed bell-shaped distribution. Expression strongly correlated 1443 genes including 103 encoding transcriptional factor proteins. Comparison - positive negative differential activation 496 1975 molecular pathways. Therein, 32/38 (84%) DNA repair pathways were hyperactivated TERT+ which was also connected accelerated replication, transcription, translation, cell cycle progression. In contrast, level 40 regulator proteins set epithelial-to-mesenchymal transition specific for TERT- group suggesting different proliferation strategies both groups cancer. Our pilot study that had ∼13% C228T or C250T mutated promoter. However, presence promoter mutations greater compared other cancers, parallel mechanisms cancers. addition, detected decreased L1 retrotransposons group, further 17 targets therapeutics may relate to

Язык: Английский

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Hidden secrets of the cancer genome: unlocking the impact of non-coding mutations in gene regulatory elements

Cellular and Molecular Life Sciences, Год журнала: 2024, Номер 81(1)

Опубликована: Июнь 20, 2024

Discoveries in the field of genomics have revealed that non-coding genomic regions are not merely "junk DNA", but rather comprise critical elements involved gene expression. These regulatory (GREs) include enhancers, insulators, silencers, and promoters. Notably, new evidence shows how mutations within these substantially influence expression programs, especially context cancer. Advances high-throughput sequencing technologies accelerated identification somatic germline single nucleotide regions. This review provides an overview alterations affecting transcription factor binding sites GREs, specifically cancer biology. It also summarizes available for exploring GREs challenges associated with studying characterizing mutations. Understanding role GRE is essential improving diagnostic prognostic capabilities precision medicine era, leading to enhanced patient-centered clinical outcomes.

Язык: Английский

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Special Issue: “Telomerase: Role in Health and Aging”

Biomedicines, Год журнала: 2022, Номер 10(11), С. 2957 - 2957

Опубликована: Ноя. 17, 2022

We would like to introduce the new volume: "Telomerase and Telomeres: Its Role in Health Aging 2 [...].

Язык: Английский

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