PIK3CA-11 mutations 12.5% AF cfDNA

Specifically designed for the FDA/CE-IVD approved Qiagen therascreen® PIK3CA RGQ PCR Kit.

PIK3CA mutations occur in approximately 40% of patients with hormone receptor (HR)–positive, human epidermal growth factor receptor 2 (HER2)–negative breast cancer were it is localized mainly on Exons 9 and 20. PIK3CA mutations are highly frequent in other tumor entities like Endometrium, Colon, Urinary tract, Cervix and the large intestine (1-5).

SKU: SID-000099 Category:

Product Description

These products are ideal for digital PCR and/or Next Generation Sequencing (NGS). In particular:
– Validation and development of sequencing protocols (e.g. Whole Genome Sequencing (WGS), Amplicon Sequencing) and PCR protocols
– Determination of the detection limit of the method

This product contains the following set of tubes:

Tube Mutations per tube included
1 PIK3CA-C420R + PIK3CA-E545A
2 PIK3CA-Q546R + PIK3CA-E542K
3 PIK3CA-H1047L + PIK3CA-E545D
4 PIK3CA-H1047R + PIK3CA-E545G
5 PIK3CA-H1047Y + PIK3CA-E545K
6 PIK3CA-Q564E
7 incl. Wildtype (Ashkenazim son cfDNA Cat. No.: SID-000003)

Each vial has the following features:

 

 

 

Mutations:

 

 

 

 

 

 

 

 

 

Buffer:
Tris-EDTA (10 mM Tris, 1 mM EDTA), pH 8.0

Storage:
2-8 °C

Expiry:
stable for 12 months from date of manufacturing (as supplied)

Quality control

Fragmentation size:
Electrophoresis-Bioanalyzer-High Sensitivity DNA Kit Agilent

Allelic Frequency (metrologically traceable):
ddPCR (Bio-Rad)

Quantification (metrologically traceable):
1. UV-Vis Spectrophotometry (NIST-Reference method)
2. Fluorometric dsDNA measurement (Qubit)

Technical background

Derived from:
The Genome In A Bottle (GIAB) cell line from the Personal Genome Project (PGB): GM24385 (HG002- NA24385 – huAA53E0 – Ashkenazim son)

Bioinformatics:
– Lot specific sequencing files: LOT Search
– High-confidence variant calls: ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/release/AshkenazimTrio
– Raw datasets and bam files, currently including 10X Genomics, BioNano, Complete Genomics regular and LFR, 300x Illumina paired-end, Illumina 6kb mate-pair, 1000x Ion exome, custom moleculo libraries, ~0.05x Oxford Nanopore, and 70x/30x/30x PacBio: ftp://ftp-trace.ncbi.nlm.nih.gov/giab/ftp/data/AshkenazimTrio/HG002_NA24385_son/

* GRCh38 · COSMIC v90

 

Literature:

1. The Cancer Genome Atlas Network. Comprehensive molecular portraits of human breast tumours. Nature. 2012;490(7418):61-70.

2. Tolaney S, Toi M, Neven P, et al. Presented at: 2019 American Association for Cancer Research (AACR) Annual Meeting; March 29 – April 3, 2019; Atlanta, GA.

3. Di Leo A, Johnston S, Seok Lee K, et al. Lancet Oncol. 2018;19(1):87-100.

4. Moynahan ME, Chen D, He W, et al. Br J Cancer. 2017;116(6):726-730.

5. Mutation distributions and clinical correlations of PIK3CA gene mutations in breast cancer

Documents

Certificate of Analysis:

Lot: 43-47+49 + wildtype batch 42

Safety Data Sheet (SDS):

Instructions For Use (IFU)

Application Details

The Reference Set of Control was specifically designed for use with the CE-IVD therascreen® PIK3CA RGQ PCR Kit from Qiagen. It contains all mutations the test kit investigates and aligns completely with the protocol of the assay.

The Food and Drug Administration approved alpelisib (PIQRAY®/alpelisib, Novartis Pharmaceuticals Corporation) in combination with fulvestrant for postmenopausal women, and men, with hormone receptor (HR)-positive, human epidermal growth factor receptor 2 (HER2)-negative, PIK3CA-mutated, advanced or metastatic breast cancer as detected by an FDA-approved test following progression on or after an endocrine-based regimen.

The FDA also approved the companion diagnostic test, therascreen® PIK3CA RGQ PCR Kit, (QIAGEN Manchester, Ltd.), to select patients who have PIK3CA mutations in tumor tissue specimens and/or in circulating tumor DNA (ctDNA) isolated from plasma specimens. If the test is negative for PIK3CA mutations in plasma, patients should undergo testing for PIK3CA mutations in tumor tissue.

Literature:

FDA