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A mutated gene for assessing breast cancer risk and its detection kit

A detection kit and breast cancer technology, applied in the field of biomedicine, can solve the problems of affecting the curative effect and prognosis, insufficient detection of BRCA1/2 gene mutation in breast cancer, influence of metabolic pathways, etc., achieving high accuracy, strong sensitivity, and simple method. Effect

Active Publication Date: 2021-03-05
PEKING UNIV SHENZHEN HOSPITAL +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Due to the existence of genetic variation, the metabolic pathway of anti-tumor drugs and the target genes of drug action may be affected, thereby affecting the efficacy and prognosis
[0004] The most common markers of hereditary breast cancer are BRCA1 and BRCA2 gene mutations, but BRCA1 / 2 gene mutations are usually not enough to detect breast cancer and treat cancer, because these gene mutations do not occur in a large number of sporadic cancers and can only be used To explain the cause of a small proportion of hereditary breast cancers

Method used

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Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0041] Example 1 Preparation of a detection kit for assessing the risk of breast cancer

[0042] The production and operation process of the kit of the present invention are based on Sanger sequencing, scanning, detection and typing technology. The kit includes DNA extraction reagents; the kit also includes primers for specifically amplifying ARHGEF18:NM_001130955:exon12:c.C2101T gene mutation, such as the sequence of the forward primer is shown in SEQ ID No.1, and the sequence of the reverse primer is It is shown in SEQ ID No.2; the kit can also include reagents commonly used in PCR reactions, such as Taq enzyme, dNTP mixture, MgCl 2 solution, deionized water, etc.; these commonly used reagents are well known to those skilled in the art, and can also include peripheral blood DNA from normal healthy females in the control group. The PCR reaction system used was 25 μL: Taq Buffer 2.5 μL, DNA 1 μL, forward primer 0.5 μL, reverse primer 0.5 μL, 10 mM dNTP 0.5 μL, Taq enzyme 0.2 ...

Embodiment 2

[0054] Example 2 Use of the detection kit prepared in Example 1

[0055] 1. Extraction of DNA

[0056] Blood samples from 46 patients with clinically detected breast cancer were taken and DNA was extracted.

[0057] The specific steps are:

[0058] (1) Add hemolysis reagent (i.e. lysate, 40 parts) to the peripheral blood stored in the 2mL cryopreservation tube. Dilute the volume of TrisHcl solution to 2000mL, the same below), mix by inverting and transfer completely.

[0059] (2) Removal of red blood cells: Fill the 5mL centrifuge tube to 4mL with hemolysis reagent, mix by inversion, centrifuge at 4000rpm for 10 minutes, and discard the supernatant. Add 4 mL of hemolysis reagent to the precipitate, invert and wash again, centrifuge at 4000 rpm for 10 minutes, and discard the supernatant.

[0060] (3) DNA extraction: Add 1 mL of extract solution (each 300 mL contains 122.5 mL of 0.2 M sodium chloride, 14.4 mL of 0.5 M ethylenediamine tetraacetic acid, 15 mL of 10% sodium do...

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PUM

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Abstract

The present invention discloses a mutation gene for assessing the risk of breast cancer. The invention also discloses a specific primer for detecting breast cancer mutation gene and a detection kit thereof. The invention utilizes the mutation sites of ARHGEF18, RPTN and TTC21B genes to develop a detection kit for evaluating the risk of breast cancer. The kit has the advantages of strong sensitivity and high accuracy, and the method is simple and fast. Prognostic evaluation is of great significance, and it also provides an important basis for clinical applications such as gene therapy and drug therapy.

Description

technical field [0001] The invention relates to the field of biomedical technology, in particular to a mutation gene for assessing the risk of breast cancer and a detection kit thereof. Background technique [0002] Breast cancer is a systemic disease, and its occurrence and development is a complex process involving multiple factors and links, including the activation of oncogenes and the inactivation of tumor suppressor genes. Therefore, gene mutation plays a very important role in the occurrence and development of breast cancer. [0003] Breast cancer is a multifactorial genetic variation disease, less than 10% is caused by a single gene defect. With the development of high-throughput gene technology, more and more breast cancer-related genes have been discovered, and potential genetic variations (single nucleotide polymorphisms and copy number variations) in these genes may cause differences in the therapeutic effects of breast cancer drugs . Due to the existence of g...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6886C12N15/12C12N15/11
CPCC07K14/47C12Q1/6886C12Q2600/118C12Q2600/156
Inventor 何劲松韦伟陈伟财刘晓岭罗雪莹李锋刘宝儿
Owner PEKING UNIV SHENZHEN HOSPITAL