Sequencing of BRCA1/2-alterations using NGS-based technology: annotation as a challenge.

ABSTRACT: In this study, the molecular profile of different BRCA-associated tumor types was assessed with regard to the classification and annotation of detected BRCA1/2 variants. The aim was to establish guidelines in order to facilitate the interpretation of BRCA1/2 alterations in routine diagnostics. Annotation of detected variants was evaluated compared to background mutations found in normal tissue samples and manually reviewed according to distinct online databases. This retrospective study included 48 samples (45 tumors, three non-tumors), which were sequenced with the GeneReader (QIAGEN). Thereof ten samples were additionally analyzed with the Ion S5™ (Thermo Fisher) and 20 samples with the MiSeq™ (Illumina^®) to compare the different NGS devices, as well as th

SUBMITTER: Ebner S 

PROVIDER: S-EPMC8893798 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature