BRCA1 gene g. 43063754T)G mutant and application thereof in breast cancer auxiliary diagnosis

An auxiliary diagnosis and mutant technology, applied in the fields of genetic engineering and oncology, can solve the problem of increasing the risk of malignant tumors, and achieve the effects of convenient diagnosis, improved sensitivity and specificity, and convenient detection.

Active Publication Date: 2019-01-18
WUXI NO 5 PEOPLES HOSPITAL
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Problems solved by technology

In addition, mutations in these two genes may also increase the risk of some other malignancies

Method used

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  • BRCA1 gene g. 43063754T)G mutant and application thereof in breast cancer auxiliary diagnosis
  • BRCA1 gene g. 43063754T)G mutant and application thereof in breast cancer auxiliary diagnosis
  • BRCA1 gene g. 43063754T)G mutant and application thereof in breast cancer auxiliary diagnosis

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Experimental program
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Embodiment Construction

[0020] The present invention will be further described below in conjunction with the accompanying drawings.

[0021] as attached Figures 1 to 2 For the BRCA1 gene g.43063754T>G mutant, its wild-type BRCA1 gene DNA sequence is shown in SEQ ID NO: 1, its mutant BRCA1 gene DNA sequence is shown in SEQ ID NO: 2, and the mutant BRCA1 gene DNA sequence is shown in SEQ ID NO: 2. Compared with the wild-type BRCA1 gene DNA sequence, the gene DNA sequence has a g.43063754T>G site mutation.

[0022] In this example, PCR amplification and Sanger sequencing were used in 58 Chinese Han female breast cancer patients with a family history of breast cancer. We found that one patient had bases T to G at position 43063754 on chromosome 17 of the BRCA1 genome The mutation of base, the numbering of this gene in NCBl reference database GRCh38.p12 is NC_000017.11 (43044295-43125483). Subsequent verification of breast cancer samples without family history showed that 4 of the 1,850 Chinese Han fem...

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Abstract

The invention discloses a BRCA1 gene g.43063754T) G mutant and application thereof in breast cancer auxiliary diagnosis, belonging to the field of genetic engineering and tumor medicine. 43063754T) Gsite mutation compare with that normal gene sequence of BRCA1, comprising a specific prim for detecting the mutant, a kit comprising the specific primer, and application of the mutant in breast cancerauxiliary diagnosis. The invention provides a novel mutation site for causing breast cancer, which can be used for early diagnosis of breast cancer.

Description

technical field [0001] The invention belongs to the fields of genetic engineering and tumor medicine, and in particular relates to a BRCA1 gene g.43063754T>G mutant and its application in auxiliary diagnosis of breast cancer. Background technique [0002] Breast cancer is one of the common malignant tumors in women, which seriously threatens women's health. Existing studies have shown that about 5-10% of breast cancer cases occur in those carrying breast cancer susceptibility gene mutations with autodominant inheritance and high penetrance. Related genes include BRCA1, BRCA2, p53, PTEN, ATM, etc. . Breast cancer susceptibility genes include high penetrance susceptibility genes, medium penetrance susceptibility genes and low penetrance susceptibility genes. Among them, BRCA1 and BRCA2 genes are the most important susceptibility genes with high penetrance rate, and they are also the two most researched genes related to the occurrence of breast cancer at present, showing o...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C12N15/11C12Q1/6886C12Q1/6858
CPCC07K14/4703C12Q1/6858C12Q1/6886C12Q2600/156C12Q2535/122C12Q2531/113C12Q2565/125
Inventor 王学东王玥苹顾娟周道平郑国沛唐海林
Owner WUXI NO 5 PEOPLES HOSPITAL
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