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Breast cancer susceptibility gene BRCA2 locus g. 32336534T>C mutant and application thereof

A susceptibility gene, breast cancer technology, applied in the field of medicine and biology, can solve the problems of protein loss and repair DNA damage, chromosomal instability, etc., to achieve the effect of improving sensitivity and specificity, convenient detection, and convenient diagnosis.

Active Publication Date: 2019-01-18
WUXI NO 5 PEOPLES HOSPITAL
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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 susceptibility gene BRCA2 locus g. 32336534T>C mutant and application thereof
  • Breast cancer susceptibility gene BRCA2 locus g. 32336534T>C mutant and application thereof
  • Breast cancer susceptibility gene BRCA2 locus g. 32336534T>C mutant and application thereof

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Experimental program
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Embodiment Construction

[0022] The present invention will be further described below in conjunction with the accompanying drawings.

[0023] A breast cancer susceptibility gene BRCA2 site g.32336534T>C mutant, its wild-type BRCA2 gene DNA sequence is shown in SEQ ID NO:1, and its mutant BRCA2 gene DNA sequence is shown in SEQ ID NO:2.

[0024] The BRCA2 gene g.32336534T>C site mutation refers to the mutation site at the 165th base of SEQ ID NO: 1 where T is mutated to C.

[0025] In this example, PCR amplification and Sanger sequencing were used in 62 Chinese Han female breast cancer patients with a family history of breast cancer. We found that 1 patient had the occurrence of bases T to C at position 32336534 on chromosome 13 of the BRCA2 genome. The mutation of base, the numbering of this gene in NCBl reference database GRCh38.p12 is NC_000013.11 (32315480-32399672). Subsequent verification of breast cancer samples without family history showed that among 1900 Chinese Han female breast cancer pati...

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Abstract

The invention discloses a breast cancer susceptibility gene BRCA2 site g.32336534T) C mutant and application thereof, belonging to the field of pharmaceutical biology. By PCR- A specific primer technique is used to design a primer sequence that can amplify a region containing a target site of a mutated gene sequence. The invention provides a novel mutation site for causing breast cancer, which canbe used for early diagnosis of breast cancer.

Description

technical field [0001] The invention relates to the field of medicine and biology, in particular to a breast cancer susceptibility gene BRCA2 site g.32336534T>C 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. Ex...

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 王学东王玥苹顾娟周道平孙安源周鸣
Owner WUXI NO 5 PEOPLES HOSPITAL
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