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Breast cancer gene ERBB2 locus g.39711928A) G mutant and application thereof

A site mutation, breast cancer technology, applied in the field of molecular biology, can solve problems such as increasing the risk of breast cancer, and achieve the effect of convenient and easy diagnosis

Pending Publication Date: 2020-05-15
ANHUI NO 2 PROVINCE PEOPLES HOSPITAL
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

This mutation was not found in 300 normal controls, indicating that this mutation site increases the risk of breast cancer

Method used

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  • Breast cancer gene ERBB2 locus g.39711928A) G mutant and application thereof
  • Breast cancer gene ERBB2 locus g.39711928A) G mutant and application thereof
  • Breast cancer gene ERBB2 locus g.39711928A) G mutant and application thereof

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Embodiment Construction

[0013] The present invention will be further described below in conjunction with the accompanying drawings.

[0014] A breast cancer gene ERBB2 site g.39711928A>G mutant, the mutant gene has a g.39711928A>G site mutation compared with the ERBB2 normal wild-type gene sequence; the ERBB2 gene g.39711928A>G site mutation It means that the mutation site is mutated from A to G at the 229th base of SEQ ID NO:1.

[0015] The invention provides a breast cancer related gene ERBB2 locus g.39711928A>G mutant, the mutation occurs at the 39711928 position of chromosome 17. The number of this gene in NCB1 reference database GRCh38.p13 is NC_000017.11 (39688084~39728662). The gene sequence listed here in the database contains the partial nucleotide sequence of the wild type of this site as shown in SEQ ID NO: 1, and the sequence corresponding to the ERBB2 gene mutation is shown in SEQ ID NO: 2, wherein the mutation site is in the sequence of SEQ ID NO: 1 The 229th position is mutated from ...

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Abstract

The invention discloses a breast cancer gene ERBB2 locus g.39711928A) G mutant. Compared with ERBB2 normal wild type genetic sequence, ERBB2 gene mutation has g.39711928A) G locus mutation. The invention provides a novel mutation site for breast cancer pathogenicity, and can be used for early breast cancer screening. Research and application of a related diagnosis test kit are carried out by changing a mutation site sequence, so that diagnosis of the breast cancer is more convenient and feasible.

Description

technical field [0001] The invention belongs to the technical field of molecular biology, and specifically relates to a breast cancer gene ERBB2 site g.39711928A>G mutant and application thereof. Background technique [0002] Breast cancer has been recognized as a systemic disease. The etiology of breast cancer has not yet been clearly revealed. With the development of tumor molecular genetics, tumor cytogenetics and molecular epidemiology, it is currently believed that environmental factors and genetic factors work together Affects the occurrence of breast cancer. In hereditary cancer syndromes, germline mutations of cancer-related genes determine the genetic susceptibility of the family to tumors; in sporadic cancers, the main risk factors are environmental factors, and the Genetic polymorphisms determine an individual's susceptibility to these factors. [0003] Studies have shown that women who carry breast cancer genetic susceptibility genes will greatly increase the...

Claims

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Application Information

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IPC IPC(8): C12Q1/6886C12N15/11
CPCC12Q1/6886C12Q2600/156C12Q1/6858C12Q2531/113C12Q2565/125Y02A50/30
Inventor 王学东王玥苹周道平顾娟张兵郑国沛
Owner ANHUI NO 2 PROVINCE PEOPLES HOSPITAL
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