BRCA2 g. 32338309A>G mutant and application thereof in breast cancer assisted diagnosis

An auxiliary diagnosis and mutant technology, which is applied in the fields of genetic engineering and tumor medicine, can solve undiscovered problems and achieve the effects of convenient diagnosis, improved sensitivity and specificity, and convenient detection

Active Publication Date: 2019-03-12
WUXI NO 5 PEOPLES HOSPITAL
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  • Abstract
  • Description
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  • Application Information

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Problems solved by technology

The detection of BRCA2 gene in China started late. Although there are several related studies, a sufficient number of mutation "hotspots" have not been found, especially breast cancer-related mutations specific to the Chinese population
Moreover, due to racial differences, the mutation spectrum of European and American countr

Method used

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  • BRCA2 g. 32338309A>G mutant and application thereof in breast cancer assisted diagnosis
  • BRCA2 g. 32338309A>G mutant and application thereof in breast cancer assisted diagnosis
  • BRCA2 g. 32338309A>G mutant and application thereof in breast cancer assisted diagnosis

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Embodiment Construction

[0021] The present invention will be further described below in conjunction with the accompanying drawings.

[0022] A BRCA2 gene g.32338309A>G 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.

[0023] The BRCA2 gene g.32338309A>G site mutation means that the mutation site is a mutation from A to G at the 140th base of the sequence of SEQ ID NO:1.

[0024] In this study, 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 a base at the position g.32338309A>G on chromosome 13 of the BRCA2 genome Mutations from A to G: Subsequent verification of breast cancer samples without family history, among 1,850 Chinese Han female breast cancer patients with breast cancer without family history, there were 5 patients carrying this mutation; No mutant individuals were found in the normal fe...

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Abstract

The invention discloses a BRCA2 g. 32338309A>G mutant and application thereof in breast cancer assisted diagnosis. Compared with the sequence of normal BRCA2 genes, the sequence of the BRCA2 g. 32338309A>G mutant has g. 32338309A>G locus mutation. The invention further discloses a specific primer for detecting the BRCA2 g. 32338309A>G mutant, a kit containing the specific primer, and application of the BRCA2 g. 32338309A>G mutant in breast cancer assisted diagnosis. The BRCA2 g. 32338309A>G mutant provides a new mutant sit of breast cancer pathogenesis to assist breast cancer diagnosis.

Description

technical field [0001] The invention belongs to the fields of genetic engineering and tumor medicine, in particular to a BRCA2 gene g.32338309A>G mutant and its application in auxiliary diagnosis of breast cancer. Background technique [0002] Breast cancer is a common cancer among women. In recent years, the incidence and mortality of breast cancer in my country have been on the rise. The occurrence and development of breast cancer are affected by many factors such as heredity, hormone levels, living habits and environment, among which genetic background, age and gender are high risk factors for breast cancer, and about 5-10% of breast cancer is hereditary breast cancer . The susceptibility genes highly correlated with breast cancer are mainly BRCA1 and BRCA2 genes, and about 15% of familial breast cancers are associated with BRCA1 and BRCA2 gene mutations. The presence of mutation sites is thought to endow individuals with different phenotypic traits, as well as diffe...

Claims

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Application Information

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IPC IPC(8): C12Q1/6886C12N15/11
CPCC12Q1/6886C12Q2600/156
Inventor 王学东顾娟王玥苹周道平郑国沛周鸣唐海林
Owner WUXI NO 5 PEOPLES HOSPITAL
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