Gene panel, kit and application for detecting multiple tumors

Abstract

The invention discloses a gene Panel, a kit and an application for detecting various tumors. The gene panel includes hereditary breast and ovarian cancer syndrome BRCA-related genes, Lynch syndrome-related genes, other genes related to the multiple tumors and key genes of homologous recombination repair pathway. Detection of germline level or combined tumor tissue level can be performed for hereditary breast and ovarian cancer syndrome BRCA-related genes, Lynch syndrome-related genes, other genes related to the various tumors and key genes of homologous recombination repair pathway , and accurately assess the genetic risk of these genes related to gynecological tumors, breast cancer, prostate cancer and digestive tract tumors according to the test results, and guide tumor patients about the application of platinum-based chemotherapy drugs and PARP inhibitors. Comprehensive guidance for precise treatment of various tumors such as gynecological tumors, breast cancer, prostate cancer and digestive tract tumors can be achieved through one test.

Description

Technical field [0001] The invention involves the field of multi -gene testing technology in tumor, and especially involves a gene Panel, kios and applications that detect a variety of tumors. Background technique [0002] According to statistics, the incidence and mortality of gynecological tumors, breast cancer, prostate cancer and gastrointestinal tumors are very high. Clinical studies attribute tumors to a genetic disease, mainly due to the activation or inhibitory of genes of primary cancer genes. With the huge progress of high -throughput sequencing (NGS) and biotechnology, multiple driving genes related to cancer and development of cancer have been found, and biomarkers that can be used to guide tumor treatment, and have developed more for driving genes and biomarkers. Drugs can be treated accurately according to the detected drive gene mutations or biomarkers in clinical treatment. Therefore, tumor -related driving gene mutations or biomarkers have become the key to preci...

AI Technical Summary

Problems solved by technology

Among them, although Sanger sequencing is the gold standard for sequencing, because the sequencing technology can only obtain one sequence in one reaction, the sequencing throughput is low; although the price of a single reaction is low, the cost of obtaining a large number of sequencing is high; the detection sensitivity is low, generally Only mutations with a mutation abundance above 20% can be detected, and some low-frequency mutations may be missed

RT-PCR can only detect known sites and cannot discover unknown sites

IHC is mainly used to detect protein expression, and cannot detect gene point mutations (SNV), small fragment insertion-deletion (Indel), etc. Therefore, the detection of medication that needs to be guided by gene SNV / Indel cannot be achieved by IHC

Although FISH detection is the gold standard for identifying gene fusion (Fusion) and amplification (CNV), it is also not applicable to the detection of SNV / Indel

However, there is currently no high-throughput sequencing technology that can simultaneously detect multiple tumors such as gynecological tumors, breast cancer, prostate cancer, and digestive tract tumors

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