Comprehensive PIK3CA Mutation Analysis

Comprehensive PIK3CA Mutation Analysis

 

When you order GTC Breast Cancer Profile

 

The FDA has approved Piqray (alpelisib) tablets, to be used in combination with the FDA-approved endocrine therapy fulvestrant, to treat postmenopausal women, and men, with hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-negative, PIK3CA-mutated, advanced or metastatic breast cancer following progression on or after an endocrine-based regimen.

FDA approval of the drug was based on detecting one of 11 frequent mutations in PIK3CA. Based on our data, these 11 mutations constitute only 62.83% of the mutation we detect when Next Generation Sequencing (NGS) is used.

Abnormalities in PIK3CA have been reported in approximately 30% of patients with breast cancer. Most of the reported mutations are gain of function. In addition to mutations, PIK3CA gene amplification has been reported in 10% of breast cancers. Based on our database more than 126 different mutations can be seen in PIK3CA gene when NGS is used for testing. Genomic Testing Cooperative (GTC) offers comprehensive PIK3CA mutation profiling as a part Breast Cancer profiling. GTC Breast Cancer Molecular profile includes mutations analysis and copy number variation testing of 40 different genes. In addition tumor mutation burden (TMB) and microsatellite instability (MSI) testing results are also reported with this profile.

Tested Genes: AKT1 APCATM ATR ATRX BRAF BRCA1 BRCA2 CDH1 CDKN2A EGFR EPCAM ERBB2 ERBB3 ERBB4 ESR1 IDH1 IDH2 KIT KMT2A KMT2C KMT2D KRAS MAP2K4 MAP3K1 MLH1 MSH2 MSH6 MTOR NF1 NOTCH1 NOTCH2 NRAS PDGFRA PIK3CA PIK3R1 PMS2 PTEN RB1 SF3B1 TP53 + (MSI) + (TMB)

 

Specimen Requirements:
FFPE: 1 H&E slide and 6-8 unstained slides, 5-7 microns of tissue fixed with 10% NBF fixative. Please circle tumor for microdissection. Alternatively, the FFPE block can be sent for tumor circling and cutting at our laboratory.

Shipping:
Ship using cold pack. The cold pack should not directly contact specimen. Ship as soon as sample collected with overnight delivery.

Turn Around Time:
5-7 days

 

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