PIK3CA Mutation Analysis, Breast Cancer, IVD

The therascreen PIK3CA RGQ RT-PCR Kit is a real-time, qualitative PCR assay for the detection of 11 mutations in the phosphatidyl 3-kinases catalytic subunit alpha (PIK3CA) gene (Exon 7: C420R; Exon 9: E542K; E545A, E545D [1635G>T only], E545G, E545K, Q546E, Q546R; and Exon 20: H1047L, H1047R, H1047Y) using genomic DNA (gDNA) extracted from formalin-fixed paraffin-embedded (FFPE) breast tumor tissue. The test is intended to aid clinicians in identifying breast cancer patients who may be eligible for treatment with PIQRAY(R) (alpelisib) based on a PIK3CA Mutation Detected result. Patients whose FFPE tissue produce a positive therascreen PIK3CA RGQ PCR Kit test result for the presence of one or more PIK3CA mutations are eligible for treatment with PIQRAY® (alpelisib).

Table 1. List of mutations detected and COSMIC identities

Please provide a copy of the pathology report. Testing will be delayed if the pathology report is not received. Please direct any questions regarding this test to customer service at 800-345-4363.

Results from the product must be interpreted within the context of all relevant clinical and laboratory findings and are not to be used alone for diagnosis.

Samples with results reported as "No Mutation Detected" may harbor PIK3CA mutations not detected by the therascreen PIK3CA RGQ PCR Kit.

Detection of mutations is dependent on sample integrity and the amount of amplifiable DNA present. The test procedure should be repeated if analysis of the DNA in the sample indicates that the quantity and/or quality is either not sufficient or the concentration is too high for mutation analysis.

The therascreen PIK3CA RGQ PCR Kit is used in a PCR procedure. As with all PCR procedures, samples may become contaminated by external sources of DNA in the test environment and the DNA in the positive control. Use caution to avoid contamination of samples and kit reagents.

If the sample contains less than the percentage of mutant alleles that is able to be detected by the therascreen PIK3CA RGQ PCR Kit, it will lead to a result of "No Nutation Detected."

It is not known whether the therascreen PIK3CA RGQ PCR Kit shows cross-reactivity (results of "Mutation Detected") to additional PIK3CA mutations different than those included in the kit.

The therascreen PIK3CA RGQ PCR Kit is a qualitative test. The test will not provide quantitative measurements of the Mutant Allele Frequency (MAF) present in a sample.

The impact of the performance of the therascreen PIK3CA RGQ PCR Kit is unknown if microbial contamination is introduced during assay procedures; operators must exercise due caution to avoid introduction of microbial contaminants during testing procedures and should not use kit components if evidence of microbial growth is observed.

The therascreen PIK3CA RGQ PCR Kit is only for use with DNA extracted from formalin-fixed, paraffin-embedded breast cancer tissue.

The therascreen PIK3CA RGQ PCR Kit is only for use with the QIAamp DSP DNA FFPE Tissue Kit (for tissue specimens).

The therascreen PIK3CA RGQ PCR Kit is a real-time qualitative PCR in vitro diagnostic test, performed on the Rotor-Gene Q MDx (US) instrument. It uses allele refractory mutation system (ARMS) primers, hydrolysis probes and PCR clamp technologies to detect 11 mutations in exons 7, 9 and 20 of the PIK3CA oncogene against a background of wild-type gDNA.