BRCA1/2 gene variation deciphering database and constructing method thereof

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.

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 ...

AI Technical Summary

Problems solved by technology

However, during the construction of these databases, the data collected mainly consider the BRCA1 gene and BRCA2 gene data of the Western population, and the collection of BRCA1 gene and BRCA2 gene variation sites in the Chinese population is less

Moreover, the interpretation rules of gene variation in various databases are not consistent, resulting in differences in the results of variation interpretation, which also increases the difficulty in clinical application

[0005] Moreover, most of these databases refer to the internationally accepted gene variation interpretation guidelines for the interpretation of the pathogenicity of the BRCA1 gene and BRCA2 gene, which is the interpretation standard issued by the American ACMG and AMP Association in 2015, but this standard is aimed at a wide range of genetic variations. Lack of specific guidance on BRCA1 gene and BRCA2 gene; ENIGMA database established its own set of rules for interpretation of BRCA1 gene and BRCA2 gene variation, and further updated in 2017, but these two rules require a lot of professional experience, subjective factors It has a great impact on the interpretation results, and does not take into account the characteristics of variation evidence required for the interpretation of BRCA1 gene and BRCA2 gene variation in the Chinese population

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