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 Tumor Mutation and Gene Copy Number Products
1¡¢Cancer DNA Mutation Testing Products
DNA mutation is the biomarker of the early stage of tumorigenesis. The testing for mutations of tumor related genes is one of the usual methods of cancer risk prediction and is also significant for the prognosis and medicine. Based on the clinical research of DNA mutation in cancer, these tests are used in the ordinary tumor risk assessment.
Now, these tumor mutation tests including the mutation detection of p53, APC, K-ras, BRAC1, and BRAC2 are popular in clinical examination. P53 mutation testing is applicable in risk assessment of gastrointestinal cancers, esophagus cancer, lung cancer, liver cancer, leukemia, pancreas cancer, lymph cancer, ovarian cancer, cervical carcinoma, prostate cancer, while APC in colorectal cancer, K-ras in lung cancer and colorectal cancer, BRAC1 in breast cancer, and BRAC2 in male breast cancer.
2¡¢Gene Copy Number Detection Products
Genome is constantly evolving, and produces all kinds of variations. The latest research shows that in 1447 gene copy number variation, 285 kinds can be pathogenic. Copy number variation is existed widely in the human genome, including deletions, insertions, duplications and complex multi-site variability ranging from 1000bp to millions bps. Its occurrence is not only related to disease but also be a product of the genome evolution.
We use real-time fluorescence quantitative PCR, which is a new, sensitive, high-throughput technology, to test the gene copy number. This detection method has the advantage of high specificity and high signal to noise ratio, and is simple, quick and require less DNA. Because the method doesn¡¯t need radiation detection, coupled with its high throughput and low cost of testing, it has been applied to many products, including mRNA expression, DNA copy number detection, single nucleotide polymorphisms (SNPs), and so on. Copy number can influence gene expression and genetic stability, so gene copy number detection plays a key role in the research of genes and diseases, and fluorescence quantitative PCR detection technology has an important role in the gene translocation testing, cytokine expression analysis, tumor drug resistance gene expression and quantitative monitoring of virus infection.
To show the important role of testing gene copy number, taking breast cancer as an example:
Her2 proto-oncogene encoded 185kD transmembrane receptor, which belongs to the epidermal growth factor (EGF) tyrosine kinase receptor family member, its expression directly impact on the epithelial cell proliferation, differentiation and survival. A large number of studies have shown that there is HER2 over expression mutation in a variety of cancer tissue. In 20%-30% of breast cancer patients, Her2 gene showed significant amplification or over expression, it means that tumors have deteriorated seriously, and develop rapidly. Therefore, we detected HER2 gene over expression by fluorescence quantitative PCR, which has important significance for treatment of breast cancer. |
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