Detection of BRCA1/2 Large Genomic Rearrangement including BRCA1 Promoter-Region Deletions using Next-Generation Sequencing

ConclusionsThese results indicated that an NGS BRCA1/2 assay could detect most LGRs including BRCA1 promoter-region deletion as well as SNVs and small InDels. Therefore, it was applicable to clinical BRCA1/2 mutation tests.
Source: Clinica Chimica Acta - Category: Laboratory Medicine Source Type: research