PMA Intended Use Statement for BRACAnalysis CDx

BRACAnalysis CDx® is an in vitro diagnostic device intended for the qualitative detection and classification of variants in the protein-coding regions and intron/exon boundaries of the BRCA1 and BRCA2 genes using genomic DNA obtained from whole blood specimens collected in EDTA. Single nucleotide variants and small insertions and deletions (indels) are identified by polymerase chain reaction (PCR) and Sanger sequencing. Large deletions and duplications in BRCA1 and BRCA2 are detected using multiplex PCR.

Results of the test are used as an aid in identifying patients who are or may become eligible for treatment with the targeted therapies listed in Table 1 in accordance with the approved therapeutic product labeling.

Table 1: Companion diagnostic indications

Tumor Type Biomarker Therapy
Breast Cancer Deleterious or suspected deleterious mutations in BRCA1 and BRCA2 genes Lynparza® (olaparib) Talzenna™ (talazoparib)
Ovarian Cancer Deleterious or suspected deleterious mutations in BRCA1 and BRCA2 genes Lynparza® (olaparib)- treatment/maintenance Rubraca® (rucaparib)
Pancreatic Cancer Deleterious or suspected deleterious mutations in BRCA1 and BRCA2 genes Lynparza® (olaparib)

Detection of deleterious or suspected deleterious germline BRCA1 and BRCA2 variants by the BRACAnalysis CDx test in ovarian cancer patients is also associated with enhanced progression-free survival (PFS) from Zejula® (niraparib) or with Rubraca® (rucaparib) maintenance therapy. This assay is for professional use only and is to be performed only at Myriad Genetic Laboratories, a single laboratory site located at 320 Wakara Way, Salt Lake City, UT 84108.

Limitation: In ovarian cancer, ~70% of tumor BRCA1 or BRCA2 mutation-positive patients are estimated to have a germline mutation while ~30% of patients are estimated to have a somatic mutation. The BRACAnalysis CDx test detects germline mutations only, not somatic mutations from patient’s blood samples. A negative result using the BRACAnalysis CDx blood test in ovarian cancer patients does not rule out the possibility of a somatic BRCA1 or BRCA2 mutation in tumor tissue from these patients.

This assay is for professional use only and is to be performed only at Myriad Genetic Laboratories, a single laboratory site located at 320 Wakara Way, Salt Lake City, UT 84108.