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BRCA1 gene g.41244291delT mutation and application in breast cancer auxiliary 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: 2015-09-30
NANJING MEDICAL UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The detection of BRCA1 gene in China started late, although there are several related studies, but a sufficient number of mutation "hotspots" have not yet 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

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  • BRCA1 gene g.41244291delT mutation and application in breast cancer auxiliary diagnosis
  • BRCA1 gene g.41244291delT mutation and application in breast cancer auxiliary diagnosis

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0063] Example 1 The collection of samples and the arrangement of sample data

[0064] 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:

[0065] 1. 70 cases of breast cancer patients with family history of breast cancer diagnosed by pathology;

[0066] 2. 3,000 cases of sporadic breast cancer patients without family history diagnosed by pathology;

[0067] 3. No family history of cancer, 3,000 healthy female controls matched with the age of the case;

[0068] 4. There are 7120 female samples in the whole population cohort from the community.

[0069] The demographic data and clinical data of these samples were collected systematically.

Embodiment 2

[0070] Example 2 Sequencing and scanning of mutation sites in peripheral blood DNA

[0071] 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'-GGCAACGAAACTGGACTCAT-3 '(SEQ ID NO:3) and R:5'-TGTGTATGGGTGAAAGGGCT-3'(SEQ ID NO:4), the primer sequences were synthesized by Nanjing GenScript (see Table 1 for details).

[0072] The specific steps are:

[0073] 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.

[0074] 2. Removal of red blood cells: Fill the 5ml centrifuge tube to 4ml with hemolysis reagent, mix by inverting, centrifuge at 4000rpm f...

Embodiment 3

[0085] Example 3 Sanger sequencing genotyping of a single mutation site

[0086] The above-mentioned Sanger sequencing scans found that the mutation sites related to the onset of breast cancer were found in 3000 cases of sporadic Chinese Han female breast cancer patients with no family history and 3000 cases of Chinese Han female breast cancer patients without family history of cancer, and the age-matched Chinese Han patients were healthy The detection was carried out in the female control, and the specific steps were as follows:

[0087]1. Add the hemolysis reagent to the leukocytes stored in the 2ml cryopreservation tube, mix it upside down and transfer it completely.

[0088] 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 ...

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Abstract

The invention belongs to the field of gene engineering and medical oncology and discloses BRCA1 gene g.41244291delT mutation and its application in breast cancer auxiliary diagnosis. The mutation BRCA1 gene sequence has a g.41244291delT site frame-shift mutation in comparison with BRCA1 normal gene sequence. The invention provides a new breast cancer-causing mutation site, and the mutation site can be used in early diagnosis of breast cancer.

Description

field of invention [0001] The invention belongs to the fields of genetic engineering and tumor medicine, and relates to the g.41244291delT mutation of BRCA1 gene and its application in auxiliary diagnosis of breast cancer. Background technique [0002] Breast cancer is the second most common malignant tumor in the world, ranking first among female malignant tumors. 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. In 2012, there were 187,000 new cases of female breast cancer in China, the number of c...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C12N15/11C12N15/12
CPCC12Q1/6886C12Q2600/156
Inventor 胡志斌沈洪兵靳光付马红霞江玥闻洋
Owner NANJING MEDICAL UNIV
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