genosmart DX Breast Cancer ^PlasmaDNA-1

Circulating tumor DNA testing to monitor breast cancer status

Useful for

The DB-DNA-BreastCancer-Plasma focus is a targeted resequencing assay for the analysis of hotspots in 10 genes with known relevance to melanoma therapies. The assay is circulating tumour DNA based and identifies variations from the plasma. ONE of the following 34 targets of the 10 melanoma related genes are monitored: BRAF c.1391-1406, BRAF V600, ERBB2 G309, ERBB2 S310, ERBB2 L755, ERBB2 D769, ERBB2 V777, GNA11 Q209, GNAQ Q209, HRAS G12, HRAS G13, HRAS Q61, KIT D52, KIT Y503-504insA, KIT M541, KIT K550-K558del, KIT V559, KIT V560, KIT L576, KIT D579, KIT K642, KIT V654, KIT C809, KIT D816, KIT D820, MAP2K1 P124, NRAS G12, NRAS G13, NRAS Q61, NRAS K117, NRAS A146, PIK3CA E542, PIK3CA E545 PIK3CA H1047, TP53 5.-8. exons. Method: PCR-amplification-based target enrichment and Next-Generation Sequencing

Speciment type requirements

2x ~10 ml of blood in PAX or Streck tubes

Required information

Known variants in the tumour/previous plasma sample

Clinical interpretation

Targeted cancer therapies are defined as antibody or small molecule drugs that block the growth and spread of cancer by interfering with specific cell molecules involved in tumour growth and progression. Multiple targeted therapies have been approved for treatment of specific cancers. Molecular genetic profiling is often needed to identify targets amenable to targeted therapies and to minimize treatment costs and therapy-associated risks.

Cautions

This test cannot differentiate between somatic and germline alterations. Additional testing may be necessary to clarify the significance of results if there is a potential hereditary risk. DNA variants of uncertain significance may be identified. A negative (wild-type) result does not rule out the presence of a mutation or rearrangement (fusion) that may be present but below the limits of detection of this assay. Rare polymorphisms may be present that could lead to false-negative or false-positive results. Test results should be interpreted in the context of clinical findings, tumour sampling, and other laboratory data. If results obtained do not match other clinical or laboratory findings, please contact the laboratory for updated interpretation. Misinterpretation of results may occur if the information provided is inaccurate or incomplete.