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"Multi-Site Evaluation of Novel BRCA1/2 Reference Materials Including Large Genomic Rearrangements"

The BRCA1 and BRCA2 tumor suppressor genes limit DNA damage. Consequently, loss-of-function mutations in these genes lead to increased incidence of breast, ovarian, and prostate cancer.

Accurate detection of BRCA variants is paramount for patients with somatic cancer to guide treatment strategies, such as eligibility for PARP inhibitor therapy, and for individuals carrying inherited mutations to consider preventive actions. However, 27 percent and five percent of pathogenic mutations in BRCA1 and BRCA2, respectively, are large genomic rearrangements (LGRs) that are particularly difficult to detect in PCR and targeted NGS-based assays. Therefore, the development of assays that consistently detect BRCA1/2 LGRs will require reliable reference materials for validation, troubleshooting, and routine quality control.

This scientific poster from LGC Seracare describes the development and multi-platform validation of a set of novel multiplexed reference materials containing 20 clinically relevant BRCA1/2 variants, including 11 large genomic rearrangements.

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