Seraseq® BRCA 1/2 Exon Deletions DNA Mix

Genetic testing of the tumor suppressor genes BRCA1 and BRCA2 allows for the identification of DNA variants which are associated with a significantly elevated lifetime risk of breast, ovarian, pancreatic and prostate cancer.

Accurate detection of pathogenic variants in BRCA1 or BRCA2 has a significant impact on the clinical management of disease, including determining a patient’s eligibility for new PARP inhibitors. However, larger structural alterations—such as exon deletions involving one or more exons—are often missed by PCR-based methods and targeted next-generation sequencing (NGS) assays due to limitations such as primer binding, breakpoint identification, and coverage variability. Given the complexity of detecting these genomic alterations, there is a critical need for a comprehensive BRCA1/2 testing algorithm that includes reference materials incorporating such large pathogenic deletions.

To support clinical laboratories in developing, characterizing, validating, and routinely assessing BRCA assays, LGC Clinical Diagnostics has developed novel reference materials containing large exon deletions in the BRCA1 and BRCA2 genes.

This unique product includes BRCA1 deletion at exon 10 and BRCA2 multi-exon deletion spanning exons 10 through 14. It is formulated in a well-characterized genomic background (GM24385) at clinically relevant allele frequencies. This product contains large synthetic BRCA1 and BRCA2 DNA constructs, allowing better compatibility with assays such as TSO500.

FEATURES AND BENEFITS

• Develop, monitor, validate and challenge your BRCA NGS assays with confidence using a highly multiplexed reference material containing biomarkers important in BRCA-driven cancers.
• Contains two large pathogenic BRCA1/2 exon deletions
• Available as purified genomic DNA at ~60% allele frequencies
• Mutation targets quantitated by highly sensitive dPCR assays, and orthogonally analyzed by NGS
• All mutations are blended against the well-characterized GM24385 human genomic DNA as ‘wild-type’ background material.