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"Reference Materials for Analysis of BRCA1 and BRCA2 Gene Variants with Expansion to Large Genomic Rearrangements (LGRs) to Support Therapy Selection in Breast and Ovarian Cancer Patients"

Mutations in BRCA1 and BRCA2 tumor-suppressor genes account for a significant portion of hereditary breast and ovarian cancer cases. Among them, large genomic rearrangements (LGRs) involving a loss or gain of partial complete BRCA exon(s) are responsible for up to 27 percent of all BRCA disease-causing mutations identified. However, these LGRs are frequently missed using both PCR-based methods and targeted NGS assays.

Given the difficulty in detecting LGRs, there is a need for a comprehensive BRCA1/2 testing algorithm including reference materials that incorporate pathogenic BRCA1/2 LGRs to support NGS assays that identify these mutations at both germline and somatic levels. Clinical studies have demonstrated that pathogenic BRCA1/2 mutations sensitized patients to platinum-based chemotherapy and PARP inhibitors. Current guidelines increasingly recommend BRCA testing in management and therapy selection. Accurate detection of BRCA1 or BRCA2 pathogenic variants is therefore critical in breast and ovarian cancer therapy as well as clinical management of disease including patients who are eligible for new PARP inhibitors.

This poster from LGC SeraCare describes the development and validation of reference material to support BRCA1 and BRCA2 gene testing, the first to include 10 LGRs, which will be useful in evaluating the ability to detect challenging LGRs and support PARP inhibitor treatment of patients with breast and ovarian cancers.

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