Oncomine™ BRCA Research Assay, Chef-Ready Library Preparation

The Oncomine™ BRCA Research Assay consists of two pools of AmpliSeq™ oligonucleotide primers and associated reagents to generate amplicon libraries for next-generation sequencing (NGS) on Ion Torrent™ platforms. The assay is designed to provide sensitive and comprehensive sample amplification of all coding regions of the human BRCA1 and BRCA2 genes. This version of the assay is for automated library preparation using the Ion Chef™ System. For manual library preparation, please see Cat. No. A32840.

Features include:

• Validated for use on Ion 318 and Ion 530 chips
• Detects SNVs, InDels, and large exon/gene deletions/duplications
• Compatible with as little as 10 ng input DNA from formalin-fixed, paraffin-embedded (FFPE) tissue or blood samples
• Highly uniform coverage across all coding exons & splice sites for efficient sequencing and accurate analysis
• Optimized primer design and amplification chemistry enable highly specific target enrichment
• Validated detection of somatic variants to 5% and lower
• Simple and fast workflow produces targeted libraries in 3.5 hours typically

The Oncomine BRCA Research Assay is a complete kit facilitating the amplification of the entire exonic region of both BRCA genes from FFPE tissue or blood samples with as little as 10 ng of input DNA. Leveraging the power of Ion AmpliSeq technology, this highly multiplexed NGS assay enables the generation of results from multiple samples in a single run. Designed for use on either the Ion PGM™ or Ion S5™ sequencing systems, results are delivered in days rather than weeks. The assay is aligned with bioinformatic workflows within Torrent Suite™ and Ion Reporter™ analysis software that utilize optimized variant calling parameters for SNV, InDel, and large exon/gene deletion/duplication detection. Samples can be processed quickly and easily, and variants detected and identified confidently in either germline or somatic DNA analysis pipelines.

BRCA1 and BRCA2 genes are tumor suppressor genes that code for proteins that are vital components of the homologous recombination pathway of DNA damage repair. BRCA mutations resulting in the deficiency of either gene have been shown to result in inefficient activation of this function and are linked to hereditary predisposition to cancer. Errors in the coding sequence of BRCA genes have been detected in germline and somatic mutations and also occur in tumor samples.