The TestGene company has received a Registration certificate for the kits for screening hereditary tumor syndromes, determination of the strategy and effectiveness of treatment: "HRR-screening" and "BRCA1,2-diagnostics".

The HRR and BRCA1,2 gene groups encode proteins that are involved in the DNA repair process and thus prevent the formation of cancer cells. However, when mutations occur this function of proteins is lost and genetic damage accumulates in the cell, which can contribute to its degeneration into cancer.

Hereditary tumor syndromes are a group of diseases associated with a predisposition to a particular type of cancer and inherited at the gene level. The most common diseases are breast cancer, ovarian cancer, prostate cancer, pancreatic cancer, stomach cancer. Identification of mutations associated with the disease may indicate an increased risk of developing a pathology and is extremely important in choosing the most effective therapy.

 The share of hereditary forms of oncological diseases accounts for up to 10% of cases while the lifetime risk of developing a tumor exceeds 70-80%. The average age of development of the disease is 25-30 years and the risk of developing oncology only increases with age.

When choosing a diagnostic system, it is important to choose the most informative one, which detects the maximum number of mutations that are specific, among other things, for a particular region with its ethnic composition. The uniqueness of the TestGene’s test systems is that they detect 16 mutations*: 8 common and 8 additional ones which are most relevant for the Eurasian continent. By the number of assay points, they are as close as possible to modern next-generation sequencing (NGS) panels.

The assay is performed by multiplex real-time PCR with detection of melting curves with the possibility of combining the tests in one testing. The material for the study is peripheral blood or buccal scraping. The test system is compatible with all open-type amplifiers.

*The test systems were developed using the database that contains information on the frequency of hereditary mutations in the genes of the DNA repair system (homologous recombination repair, HRR) obtained as part of the Hereditary syndromes in the Russian Federation project https://oncobrca.ru/
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