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Standardized Molecular Detection of RET and Other Gene Fusions in Thyroid Cancer: A Two-Site Validation Study

This study validated methods for detecting RET gene alterations in thyroid cancer using molecular testing across two institutions. It found that next-generation sequencing (NGS) reliably identified RET fusions, other gene fusions, and key mutations, with confirmation by FISH and RT-PCR. Results showed a high level of agreement between both institutions, demonstrating the accuracy and reproducibility of the testing methods. These findings support the use of standardized NGS-based protocols to identify patients who may benefit from RET-targeted therapies. 60 DNA and 60 RNA has been sequenced by targeted NGS

Type: Cancer Genomics
Archive: European Genome-phenome Archive (EGA)

1 Dataset

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD50000002861	This dataset contains aligned BAM files generated from targeted amplicon sequencing, using Oncomine Focus assay (Thermo Fisher Scientific). The dataset includes 120 samples from 60 patients of Thyroid cancer. Reads were aligned to the reference genome and are provided as BAM files for downstream analysis. No processed variant calls are included. We uploaded 60 BAM from DNA samples and the 60 BAM of the RNA samples of these patients	Ion Torrent S5 XL	120