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DNA methylation marker for predicting risk of primary breast cancer, and screening method and application of DNA methylation marker

A screening method and methylation technology, which can be used in biochemical equipment and methods, recombinant DNA technology, DNA/RNA fragments, etc., can solve the problems of breast cancer risk stratification, etc. efficiency, cost savings

Pending Publication Date: 2020-07-24
武汉百药联科科技有限公司 +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Methylation markers detected are insufficient for early detection of breast cancer, but marker or combination of markers may be useful for breast cancer risk stratification

Method used

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  • DNA methylation marker for predicting risk of primary breast cancer, and screening method and application of DNA methylation marker
  • DNA methylation marker for predicting risk of primary breast cancer, and screening method and application of DNA methylation marker
  • DNA methylation marker for predicting risk of primary breast cancer, and screening method and application of DNA methylation marker

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0056] Taking the DNA methylation marker 10:12277929 as an example, according to the Beta value of the sample, a prediction model was constructed to predict 32 patients with primary breast cancer. According to the data set information, 14 unaffected samples were predicted to be The result is as follows:

[0057]

[0058]

[0059]The OR value in this model was 27.8114, the P value was 1.02E-24, significant, and the 95% confidence interval was [14.6042, 52.9625].

Embodiment 2

[0061] Taking the DNA methylation marker 10:12277911 as an example, according to the Beta value of the sample, a prediction model was constructed to predict 30 patients with primary breast cancer. According to the data set information, 20 unaffected samples were predicted to be The result is as follows:

[0062]

[0063] The OR value in this model was 18.0293, the P value was 2.16E-20, significant, and the 95% confidence interval was [9.6865, 34.0422].

Embodiment 3

[0065] Taking the DNA methylation marker 10:12256556 as an example, according to the Beta value of the sample, a prediction model was constructed to predict 26 patients with primary breast cancer, and according to the data set information, 34 unaffected samples were predicted to be The result is as follows:

[0066]

[0067] The OR value in this model was 8.9491, the P value was 2.98E-13, significant, and the 95% confidence interval was [5.0519, 15.6948].

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Abstract

The invention discloses a DNA methylation marker for predicting the risk of primary breast cancer, and a screening method and application of the DNA methylation marker. The method comprises the following steps: (1) performing methylation analysis on sample data to obtain methylation sites related to prediction of primary breast cancer occurrence risks; (2) obtaining methylation Beta values for themethylation sites; (3) constructing a primary breast cancer occurrence risk prediction model based on the methylation Beta values of the methylation sites, and verifying the feasibility of the modelby calculating a ratio; (4) constructing a primary breast cancer occurrence risk prediction model based on the methylation sites by adopting a machine learning method, calculating a ratio ratio, AUC,a recall rate, an accuracy rate and an F1 value, and performing mutual verification with the prediction model in the step (3); and (5) obtaining the methylation sites corresponding to the methylationprobe in the prediction model as the DNA methylation marker. The DNA methylation marker can improve the detection rate of primary breast cancer, and is suitable for large-scale popularization and application.

Description

technical field [0001] The invention relates to the field of biotechnology, in particular to a DNA methylation marker for predicting the occurrence risk of primary breast cancer and a screening method and application thereof. Background technique [0002] Breast cancer ranks first in the global incidence of female malignant tumors and is one of the most common malignant tumors in women worldwide. According to 2012 data, there were 1,700,000 breast cancer cases and more than 500,000 deaths. In China, about 268,000 women are diagnosed with breast cancer each year, and about 70,000 of them die of breast cancer, accounting for about 15% of all women's newly diagnosed malignancies and 7% of women's cancer-related deaths (Torre L A, Bray F, Siegel R L, et al. Globalcancer statistics, 2012[J]. CA: a cancer journal for clinicians, 2015, 65(2): 87-108; J.A, Merino, Bonilla, et al. Breast cancer in the 21st century: From early detection to new therapies[J].Radiología(English Edition...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6886C12N15/11G16B20/20G16B40/20
CPCC12Q1/6886G16B20/20G16B40/20C12Q2600/154
Inventor 张红雨全源佟馨宇李姜黄清
Owner 武汉百药联科科技有限公司
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