北海地区遗传性乳腺癌和健康遗传高危人群BRCA1和BRCA2基因突变研究

Study of BRCA1 and BRCA2 gene mutations of hereditary breast cancer and healthy genetic high-risk population in Beihai city

目的:探讨北海地区遗传性乳腺癌和健康遗传高危人群乳腺癌易感基因(BRCA)1和BRCA2基因突变特征。方法:选取北海市人民医院普通外科收治的50例遗传性乳腺癌患者及150例健康遗传性高危人群,PCR-DNA直接测序法检测BRCA1、BRCA2的全编码外显子基因序列。结果:50例遗传性乳腺癌患者中共有8例BRCA1/2基因突变,总突变率为16%;其中BRCA1突变占12.0%,BRCA2突变占4.0%。三阴性乳腺癌患者BRCA1/2基因突变率为57.1%(4/7),高于非三阴性乳腺癌患者的9.3%(4/43),差异有统计学意义(P<0.05)。150例健康遗传性高危人群存在2例致病性突变,均位于BRCA1的11外显子,突变率为1.3%(2/150)。结论:北海地区女性遗传性乳腺癌存在BRCA1和BRCA2基因突变,与三阴乳腺癌有关,突变类型以碱基置换突变为主;健康遗传高危人群也存在BRCA1突变。

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 mutations 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.