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
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[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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