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Markers for evaluating risk of familial breast cancer and application thereof

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

Inactive Publication Date: 2019-01-11
北京致成生物医学科技有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

These variants explain only 37% of familial breast cancer risk

Method used

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  • Markers for evaluating risk of familial breast cancer and application thereof
  • Markers for evaluating risk of familial breast cancer and application thereof
  • Markers for evaluating risk of familial breast cancer and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0084] Example 1 Sample collection and clinical data collection of hereditary breast cancer in different families

[0085] 1. Inclusion criteria of families with breast cancer patients

[0086] 1) In a family, except the proband, there is one or more cases of breast cancer in the first-degree relatives, and at least one case meets one of the following conditions: <40 years old at onset; bilateral breast cancer at the same time or successively Breast cancer; non-breast malignancies concurrently or sequentially;

[0087] 2) Have not received any relevant treatment before surgery, such as radiotherapy, chemotherapy, endocrine therapy and targeted therapy;

[0088] 3) Those who meet the international clinical stage I-IV without contraindications, who have undergone relevant surgical treatment (including mastectomy for breast cancer surgery, radical mastectomy, modified radical mastectomy, and breast-conserving surgery, with or without axillary surgery) lymphadenectomy).

[0089...

Embodiment 2

[0098] Example 2 Using iTRAQ technology to carry out blood proteomics research identification analysis

[0099] 1. Test samples

[0100] Family 1 ( figure 1Family 1 map) includes 14 members, of which No. 1 died, No. 2 was a patient, family members No. 4 and No. 5 were sick, and the other 10 members were not sick; 4 people (1, 2, 4, 5 No.) suffered from malignant tumors, including breast cancer, pancreatic cancer, cervical cancer, thyroid cancer and liver cancer; 1 person (No. 4) suffered from three malignant tumors (breast cancer, thyroid cancer and liver cancer) at the same time. Among them, there were 3 cases (No. 2, No. 4, and No. 5) in the case group, and 10 cases (other members) in the control group. The blood of all members of the family was collected, left at 4°C for 1 hour, centrifuged at 3000g for 10 minutes, and the supernatant was collected and stored on ice. Aliquot and store at -80°C for later use.

[0101] 2. iTRAQ quantitative experiment

[0102] 2.1 Sample ...

Embodiment 3

[0149] Example 3 Whole Exome Sequencing

[0150] 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. All 3 patients and 10 control samples were from family 1.

[0151] 1) Genomic DNA was extracted from peripheral blood;

[0152] 2) Randomly break into fragments with a length of 180-280bp, and after end repair and A-tailing, link adapters at both ends of the fragments to prepare DNA libraries;

[0153] 3) Using Agilent's liquid phase chip capture kit (Agilent SureSelect Human All ExonV5 kit) to efficiently enrich human DNA from the entire exon region;

[0154] 4) Liquid-phase hybridization with up to 543,872 biotin-labeled probes after library pooling with a specific index;

[0155] 5) Using magnetic beads with streptomycin to capture 334,378 exons of 20,965 genes;

[0156] 6) Perform librar...

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PUM

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Abstract

The invention discloses a marker for evaluating the risk of familial breast cancer, which is MYC gene or MYC protein, and further confirms that the expression of MYC is up-regulated in a breast cancersample. The molecular marker can be used to prepare early diagnosis reagent or kit for familial breast cancer, which can detect the occurrence and development trend of breast cancer in the high-riskpopulation of breast cancer earlier and more conveniently. At the same time, the molecular marker can be used to detect breast cancer and provide therapeutic targets and important basis for gene therapy, drug therapy and other clinical applications.

Description

technical field [0001] The invention relates to the field of biomedical technology, in particular to a marker for assessing the risk of familial breast cancer and its application. Background technique [0002] Breast cancer is the most common malignant tumor in women. Its morbidity and mortality are increasing year by year, much higher than the national average growth rate, and the age of onset is showing a younger trend (the age of high incidence is 10 years earlier than the average age of onset in the world). The number one killer of women's health. However, since most breast cancers lack specific therapeutic targets, traditional methods of intervention are often used in clinical practice, which cannot effectively reduce the risk of recurrence, metastasis and death, and bring a heavy burden to the family and society. [0003] Genetic factors play an important role in the occurrence and development of breast cancer. Research shows that about 10% of breast cancers are gene...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6886G01N33/574
CPCC12Q1/6886C12Q2600/118C12Q2600/158G01N33/57415G01N33/57488G01N33/57496G01N2333/82
Inventor 杨跃梅贾冰寒赵小灵宋健王金龙姚晨赫商雪萌
Owner 北京致成生物医学科技有限公司
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