Breast cancer related SNP marker

A breast cancer, biomarker technology, applied in the field of biomedicine

Active Publication Date: 2017-02-15
SHENZHEN SHUANGKE BIOTECH CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0006] However, there is no report on the application of SNP in the diagnosis of breast cancer. If the SNP of breast cancer susceptibility can be screened out as a biomarker, and a corresponding diagnostic

Method used

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  • Breast cancer related SNP marker

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Experimental program
Comparison scheme
Effect test

Embodiment 1

[0050] The collection of embodiment 1 sample and the arrangement of sample data

[0051] From January 2010 to December 2015, the inventor collected a large number of blood samples from patients with new breast cancer in Shenzhen Second People's Hospital. After sorting out the sample data, the inventor selected 25 samples that met the following criteria At the same time, 10 healthy women aged 25-55 were selected as controls for whole-exome microarray testing. The sample selection criteria were as follows:

[0052] 1. Breast cancer cases diagnosed by pathology, among which 3 patients have a family history of cancer and are marked as X1, X2, and X3 respectively;

[0053] 2. Have not received radiotherapy or chemotherapy before blood collection, and have no previous history of cancer;

[0054] 3. Healthy female controls matched with the age of the case

[0055] The demographic data and clinical data of these samples were collected systematically.

Embodiment 2

[0056] Example 2 Extraction and Purification of Peripheral Blood DNA

[0057] Among the above-mentioned 25 eligible breast cancer patients and 10 healthy female controls, the age balance of the two groups was comparable.

[0058] The specific steps are:

[0059] 1. Add hemolysis reagent (i.e., lysate, 40 parts) to the peripheral blood stored in a 2mL cryopreservation tube. The volume of the solution was adjusted to 2000mL, the same below), and it was completely transferred after inverting to mix well.

[0060] 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 4 mL of hemolysis reagent to the precipitate, invert and wash again, centrifuge at 4000 rpm for 10 minutes, and discard the supernatant.

[0061] 3. Extract DNA: add 1mL extract solution (each 300mL contains 122.5mL0.2M sodium chloride, 14.4mL0.5M ethylenediaminetetraacetic acid, 15mL10% sod...

Embodiment 3

[0066] The whole exome detection of embodiment 3SNP

[0067] The two groups of people in Example 2 were detected by the whole exome chip to obtain relevant results.

[0068] 1. Library construction

[0069] Beijing Novogene Technology Co., Ltd. uses Agilent's liquid-phase chip capture system to efficiently enrich human DNA from the entire exon region, and then perform high-throughput and high-depth sequencing on the Illumina Hiseq platform. The Agilent SureSelect Human All ExonV5 kit was used for library construction and capture experiments, the reagents and consumables recommended in the instructions were strictly used, and the operation was performed according to the latest optimized experimental procedures.

[0070] The basic process of the experiment: Genomic DNA was randomly broken into fragments with a length of 180-280bp by a Covaris crusher, and after end repair and A-tailing, adapters were connected to both ends of the fragments to prepare a DNA library. After pooli...

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Abstract

The invention discloses a breast cancer related biomarker. The biomarker comprises an SNP site of which base in the position 8187 from the 5' end of the nucleotide sequence of gene C12orf45 is G, wherein the site is C12orf45:NM_152318:exon4:c.C368G. In the invention, the application prospect of SNP in breast cancer assisted diagnosis is studied, the influence of SNP on the breast cancer progress is elaborated, and the diagnosis value thereof is revealed. Therefore, through the development and application of the SNP biomarker and diagnosis kit, the diagnosis of breast cancer is more convenient and easier to implement, a foundation is laid for the quick and accurate control of the patient condition by clinical doctors and for the evaluation of clinical treatment effect, and the discovery of a novel small-molecule drug target with potential treatment value is facilitated.

Description

technical field [0001] The invention relates to the technical field of biomedicine, in particular to a SNP marker related to breast cancer. 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 genetic variation, the metabolic pathway of ant...

Claims

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Application Information

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IPC IPC(8): C12N15/11C12Q1/68
CPCC12Q1/6886C12Q2600/156
Inventor 何劲松陈伟财欧阳依雯毛有胜罗雪莹潘悦刘宝儿李锋
Owner SHENZHEN SHUANGKE BIOTECH CO LTD
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