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

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...

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