Study of BRCA1 and BRCA2 gene mutations of hereditary breast cancer and healthy genetic high-risk pop-ulation in Beihai city
Objective To investigate the characteristics of BRCA1 and BRCA2 gene mutations in hereditary breast cancer and healthy genetic high-risk population in Beihai area.Method Fifty patients with hereditary breast cancer and 150 healthy patients with hereditary high-risk were selected from the Department of General Surgery of Beihai People's Hospital.PCR-DNA direct sequencing was used to detect the full coding exon gene sequences of BRCA1 and BRCA2.Results A total of 8 cases with BRCA1/2 gene muta-tions were found in 50 patients with hereditary breast cancer,and the total mutation rate was 16%.BRCA1 mutation accounted for 12.0%and BRCA2 mutation accounted for 4.0%.The BRCA1/2 gene mutation rate in triple negative breast cancer patients was 57.1%(4/7),which was higher than 9.3%(4/43)in non-triple negative breast cancer patients(P<0.05).Two pathogenic mutations were found in 150 healthy genetic high-risk populations,both of which were located in exon 11 of BRCA1,with a mutation rate of 1.3%(2/150).Conclusion There are BRCA1 and BRCA2 gene mutations in female hereditary breast cancer in Beihai area,which are related to triple negative breast cancer,and the types of mutations are mainly base replacement mutations.BRCA1 mutations are also present in healthy people at high genetic risk.
万方数据
维普
