BRCA1/2 gene variation deciphering database and constructing method thereof

A technology of gene variation and construction method, which is applied in the fields of genomics, instrumentation, proteomics, etc., can solve the problems of differences in variation interpretation results, failure to consider the characteristics of variation evidence, and increase clinical applications, etc.
CN109920481AActive Publication Date: 2019-06-21BEIJING NOVOGENE TECH CO LTD
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Patent Information

Authority / Receiving Office
CN ยท China
Current Assignee / Owner
BEIJING NOVOGENE TECH CO LTD
Publication Date
2019-06-21

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Abstract

The invention discloses a BRCA1 / 2 gene variation deciphering database and a constructing method thereof. The database comprises Chinese population BRCA1 / 2 gene variation histological information, Chinese population BRCA1 / 2 gene variation frequency and Chinese population BRCA1 / 2 gene variation deciphering result. According to the BRCA1 / 2 gene variation deciphering database according to the invention, the Chinese population BRCA1 gene and BRCA2 gene variation site information and related information of variation frequency in Chinese population are firstly collected and processed comprehensively.Furthermore a deciphering result which aims at the Chinese population BRCA1 / 2 gene variation is included. The database is established for aiming at the Chinese population characteristic. Therefore the variation characteristic of the Chinese population BRCA1 / 2 gene can be presented in a relative comprehensive manner. Therefore the deciphering result is more suitable for the Chinese population.
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Description

technical field

[0001] This application relates to the field of gene data variation interpretation, specifically, a BRCA1 / 2 gene variation interpretation database and its construction method. Background technique

[0002] BRCA1 gene and BRCA2 gene are closely related to the incidence of breast cancer, ovarian cancer and other cancers, and can prompt the clinical efficacy of PARP inhibitor drugs, which is necessary for clinical testing. If you carry the BRCA1 / 2 mutation gene, the carrier has a higher risk of developing breast cancer, ovarian cancer, and prostate cancer than the non-carrier, and the risk increases with age. Preventive resection is the main prevention method that can be used Measures; In recent years, major breakthroughs have been made in targeted therapy. In the clinical treatment of advanced ovarian cancer and breast cancer, patients with BRCA1 / 2 mutations are more likely to receive PARP (polyADP-ribose polymerase) inhibitors. Benefits from the treatment of ...

Claims

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