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.

Active Publication Date: 2019-06-21
BEIJING NOVOGENE TECH CO LTD
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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 g

Method used

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  • BRCA1/2 gene variation deciphering database and constructing method thereof
  • BRCA1/2 gene variation deciphering database and constructing method thereof
  • BRCA1/2 gene variation deciphering database and constructing method thereof

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Embodiment 1

[0073] In order to verify the accuracy of the interpretation of the BRCA1 / 2 gene variation interpretation database constructed by this application, for the BRCA1 gene and BRCA2 gene loci included at the same time, the results of the interpretation of this application were compared with the judgment results of similar international databases. details as follows:

[0074] Using the BRCA1 / 2 gene variation interpretation database constructed in this application and similar international BRCA1 / 2 gene databases, such as ClinVar, BIC, ENIGMA and BRCAshare, the consistency of the interpretation results of the commonly included mutation sites was compared and verified. At the same time, compare the five-level pathogenic grade classification formulated in accordance with the ACMG / AMP guidelines to confirm the accuracy of the pathogenic grade classification. It is further divided into two levels of pathogenicity according to the clinical significance of the pathogenicity level, that is, ...

Embodiment 2

[0079] figure 1 , figure 2 and image 3 The BRCA1 gene and BRCA2 gene variation maps of the Chinese population drawn through the data collection of this application are shown.

[0080] in, figure 1 and figure 2 It shows that the point mutations (single nucleotide variation, insertion-deletion variation) of the BRCA1 gene and BRCA2 gene in the Chinese population are widely distributed in the full length of the gene, and are comprehensively distributed in 23 exons of the BRCA1 gene and 28 exons of the BRCA2 gene. on an exon. Exon 10 of BRCA1 gene and exon 11 of BRCA2 gene accounted for the largest number of variation sites. The BRCA1 gene and BRCA2 gene in the Chinese population have no obvious high-frequency variation, and the higher frequency variation is also scattered on the gene loci, among which c.5470_5477delATTGGGCA(p.Ile1824AspfsTer3) of the BRCA1 gene and c.3109C>T( p.Gln1037Ter) were the most frequent pathogenic variants in the two genes, respectively.

[008...

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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.

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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Application Information

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IPC IPC(8): G16B20/20G16B50/00
Inventor 高先琦南希燕刘睿刘漪澜单光宇李雷宋乐乐成岗李瑞强
Owner BEIJING NOVOGENE TECH CO LTD
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