Looking for breakthrough ideas for innovation challenges? Try Patsnap Eureka!

BRCA2 gene g.32912799T>C mutation and application of mutation in auxiliary breast cancer diagnosis

A technology for auxiliary diagnosis and breast cancer, which is applied in the field of genetic engineering and oncology medicine, and can solve undiscovered problems

Active Publication Date: 2015-10-21
NANJING YIKE POPULATION HEALTH RES INST CO LTD
View PDF4 Cites 10 Cited by
  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The detection of BRCA2 gene in China started late. Although there are several related studies, a sufficient number of mutation "hotspots" have not been found, especially breast cancer-related mutations specific to the Chinese population
Moreover, due to racial differences, the mutation spectrum of European and American countries is not fully applicable to the Chinese population. If the mutation sites related to the onset of breast cancer can be screened out as biomarkers, and corresponding diagnostic kits can be developed, it will be beneficial to the screening and treatment of breast cancer in my country. Early diagnosis will be a powerful push

Method used

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
View more

Image

Smart Image Click on the blue labels to locate them in the text.
Viewing Examples
Smart Image
  • BRCA2 gene g.32912799T>C mutation and application of mutation in auxiliary breast cancer diagnosis
  • BRCA2 gene g.32912799T>C mutation and application of mutation in auxiliary breast cancer diagnosis

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0064] The collection of embodiment 1 sample and the arrangement of sample data

[0065] From 2004 to 2013, the inventor collected a large number of blood samples from Chinese Han female breast cancer patients and normal population from the Nanjing Medical University Cancer Center and normal population in the community. The following standard samples Sanger sequencing scanning typed experimental samples:

[0066] 1. 70 cases of breast cancer patients with family history of breast cancer diagnosed by pathology;

[0067] 2. 3,000 cases of sporadic breast cancer patients without family history diagnosed by pathology;

[0068] 3. No family history of cancer, 3,000 healthy female controls matched with the age of the case;

[0069] 4. There are 7120 female samples in the whole population cohort from the community.

[0070] The demographic data and clinical data of these samples were collected systematically.

Embodiment 2

[0071] Example 2 Sequencing scanning of mutation sites in peripheral blood DNA

[0072] In the above 70 cases of breast cancer patients with family history and healthy controls, Sanger sequencing was used to obtain relevant results. The sequencing process followed the standard operation of Sanger sequencing, and artificially designed Sanger sequencing primers. The primer sequence was F: 5'-GGCCAGTTTATGAAGGAGGG-3 '(SEQ ID NO:3) and R:5'-TGGCACCACAGTCTCAATAGA-3'(SEQ ID NO:4), the primer sequences were synthesized by Nanjing GenScript (see Table 1 for details).

[0073] The specific steps are:

[0074] 1. Add hemolysis reagent (i.e. lysate, 40 parts) to the leukocytes stored in the 2ml cryopreservation tube. The volume of the solution was adjusted to 2000ml, the same below), and it was completely transferred after inverting and mixing.

[0075] 2. Removal of red blood cells: Fill the 5ml centrifuge tube to 4ml with hemolysis reagent, mix by inverting, centrifuge at 4000rpm for ...

Embodiment 3

[0086] Example 3 Sanger sequencing genotyping of a single mutation site

[0087] The above-mentioned Sanger sequencing scans found that the mutation sites related to the onset of breast cancer were found in 3,000 cases of sporadic Chinese Han female breast cancer patients with no family history and 3,000 Chinese Han females without family history of cancer, matched with the age of the cases The detection was carried out in healthy female controls, and the specific steps were as follows:

[0088] 1. Add the hemolysis reagent to the leukocytes stored in the 2ml cryopreservation tube, mix it upside down and transfer it completely.

[0089] 2. Removal of red blood cells: Fill the 5ml centrifuge tube to 4ml with hemolysis reagent, mix by inverting, centrifuge at 4000rpm for 10 minutes, and discard the supernatant. Add 4ml of hemolysis reagent to the precipitate, invert and wash again, centrifuge at 4000rpm for 10 minutes, and discard the supernatant.

[0090] 3. Extract DNA: Add 1m...

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

PUM

No PUM Login to View More

Abstract

The invention belongs to the field of genetic engineering and tumor medical science and discloses a BRCA2 gene g.32912799T>C mutation and application of the mutation in auxiliary breast cancer diagnosis. Compared with a normal BRCA2 gene sequence, the BRCA2 gene mutation has a g.32912799T>C locus mutation. The BRCA2 gene g.32912799T>C mutation provides a new pathogenic mutation locus of breast cancer and can be used for diagnosing breast cancer at the early stage.

Description

field of invention [0001] The invention belongs to the fields of genetic engineering and tumor medicine, and relates to the g.32912799T>C mutation of BRCA2 gene and its application in auxiliary diagnosis of breast cancer. Background technique [0002] Breast cancer is the most common malignant tumor in women. According to statistics from the International Cancer Research Center of the World Health Organization, there were 1.67 million new cases of female breast cancer in the world in 2012, accounting for 25% of all female malignant tumors. At the same time, breast cancer is the fifth most common cause of death from malignant tumors in the world, ranking first among the causes of death from malignant tumors in women. A total of 520,000 people died of breast cancer worldwide, accounting for 14.7% of all female malignant tumor deaths. [0003] The incidence of female breast cancer in China is also increasing day by day, which poses a great threat to women's health. [0004...

Claims

the structure of the environmentally friendly knitted fabric provided by the present invention; figure 2 Flow chart of the yarn wrapping machine for environmentally friendly knitted fabrics and storage devices; image 3 Is the parameter map of the yarn covering machine
Login to View More

Application Information

Patent Timeline
no application Login to View More
IPC IPC(8): C12N15/11C12Q1/68
Inventor 沈洪兵胡志斌江玥陈佳萍周雯
Owner NANJING YIKE POPULATION HEALTH RES INST CO LTD
Who we serve
  • R&D Engineer
  • R&D Manager
  • IP Professional
Why Patsnap Eureka
  • Industry Leading Data Capabilities
  • Powerful AI technology
  • Patent DNA Extraction
Social media
Patsnap Eureka Blog
Learn More
PatSnap group products

Browse by: Latest US Patents, China's latest patents, Technical Efficacy Thesaurus, Application Domain, Technology Topic, Popular Technical Reports.

© 2024 PatSnap. All rights reserved.Legal|Privacy policy|Modern Slavery Act Transparency Statement|Sitemap|About US| Contact US: help@patsnap.com