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

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...

AI Technical Summary

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 countries is not fully applicable to the Chinese population. If the mutation sites related to the onset of breast cancer can be screened out as biomarkers, and corresponding diagnostic kits can be developed, it will be beneficial to the screening and treatment of breast cancer in my country. Early diagnosis will be a powerful push

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