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Breast cancer-related gene BRCA2 locus g.32336265G>T mutant and applications thereof

A site mutation and breast cancer technology, applied in the field of medical biology, can solve problems such as protein loss, repair DNA damage, chromosome instability, etc., achieve convenient and easy diagnosis, and enrich the effect of pathogenic mutation spectrum

Active Publication Date: 2020-06-19
WUXI NO 5 PEOPLES HOSPITAL
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  • Abstract
  • Description
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  • Application Information

AI Technical Summary

Problems solved by technology

The protein expressed after the BRCA2 gene mutation loses the function of repairing DNA damage, resulting in chromosomal instability and promoting tumorigenesis

Method used

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  • Breast cancer-related gene BRCA2 locus g.32336265G>T mutant and applications thereof
  • Breast cancer-related gene BRCA2 locus g.32336265G>T mutant and applications thereof
  • Breast cancer-related gene BRCA2 locus g.32336265G>T mutant and applications thereof

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Experimental program
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Embodiment Construction

[0012] The present invention will be further described below in conjunction with the accompanying drawings.

[0013] as attached figure 1 And attached figure 2 A breast cancer-associated gene BRCA2 site g.32336265G>T mutant is characterized in that: its wild-type BRCA2 gene sequence is shown in SEQ ID NO: 1, and its mutant BRCA2 gene sequence is shown in SEQ ID NO: 2 Shown; mutant BRCA2 gene and wild-type BRCA2 gene sequence have g.32336265G>T site mutation.

[0014] The specific primers used for the mutation site of the above-mentioned BRCA2 gene are amplified by PCR to detect whether there is a fragment of the mutation product in the BRCA2 gene; and the Sanger sequencing method is used to detect whether there is a base mutation at the site, wherein the PCR amplification primer The sequence of the upstream primer is shown in SEQ ID NO:3, and the sequence of the downstream primer is shown in SEQ ID NO:4, which is used to detect the BRCA2 gene locus g.32336265G>T mutation; t...

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Abstract

The invention discloses a breast cancer-related gene BRCA2 locus g.32336265G>T mutant and a specific primer for detecting the mutant. Thus, the diagnosis of breast cancer can be implemented more conveniently and easily, and clinicians can conveniently, timely and precisely know the conditions of patients; the mutant and the specific primer can be taken as the evaluation criteria of clinical treatment effects; theoretical support can be provided for the discovery of novel small molecule drug targets having potential treatment values; the pathogenic mutation spectrum of a BRCA2 gene can be enriched; and therefore, the mutant and the specific primer have important significance on carrying out the molecular diagnosis of hereditary breast cancer and the screening of high-risk population.

Description

technical field [0001] The invention relates to a medical biotechnology, in particular to a breast cancer related gene BRCA2 locus g.32336265G>T mutant and application thereof. Background technique [0002] In recent years, the morbidity and mortality of cancer in my country have been increasing, and malignant tumors have become a major public health problem in China. According to the results released by the my country Cancer Registry Center in 2016, in 2012, there were 3.586 million new cancer cases in my country, 2.187 million deaths, a crude incidence rate of 265 / 100,000, and a mortality rate of 161.5 / 100,000. In the current situation of malignant tumors, breast cancer ranks first among female malignant tumors, with about 273,000 new cases every year, and the age of onset is showing a trend of younger age. It is the number one killer that seriously threatens women's lives. [0003] Breast cancer is a malignant tumor with a strong genetic background. Existing research ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6886C12N15/11
CPCC12Q1/6886C12Q2600/156
Inventor 王学东王清平周道平郑国沛唐海林顾娟
Owner WUXI NO 5 PEOPLES HOSPITAL
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