深圳地区当地与外来人口乳腺癌BRCA1基因突变位点的比较

Comparison of loci of breast cancer BRCA1 gene mutation in local patients and migrant patients in Shenzhen

目的:探讨深圳地区当地与外来人口乳腺癌BRCA1基因突变发生率及突变位点差异。方法:入选202例明确诊断为原发性乳腺癌女性患者,其中深圳地区64例,外来人口138例,收集两组人群一般资料进行比较,PCR/DNA方法检测两组人群BRCA1基因突变发生率及突变位点;采用Logistic回归分析影响乳腺癌发病率的危险因素。结果:①外来患者平均年龄较深圳本地患者小(P<0.05),两组人群乳腺癌病理类型分布、乳腺癌家族史百分率差异均有统计学意义(P<0.01)。②深圳本地乳腺癌患者存在基因突变为22例(占34.4%),存在5个BRCA1基因突变位点;外来患者存在基因突变为54例(占39.1%),存在4个BRCA1基因突变位点,两组人群BRCA1基因突变发生率差异有统计学意义(P<0.05);两组人群中有3个基因突变位点相似。③Logistic回归分析提示乳腺癌发病率与阳性家族史、地区差异以及基因突变相关。结论:深圳地区当地与外来患者乳腺癌BRCA1基因突变发生率及突变位点存在差异,这可能导致两组人群发病年龄及病理类型存在差异的原因。

Objective： To explore the differences of incidences and loci of breast cancer BRCA1 gene mutation in local patients and migrant patients in Shenzhen. Methods ： A total of 202 female patients who were diagnosed as primary breast cancer definitely were selected as study objects, including 64 patients from Shenzhen city and 138 migrant patients; the general data of patients in the two groups were collected and compared, PCR/DNA method was used to detect the incidence of BRCA1 gene mutation and mutant loci in the two groups; lo- gistic regression analysis was used to analyze the risk factors of occurrence of breast cancer. Results ： The mean age of migrant patients was younger than that of resident patients （ P 〈 0. 05 ） , there was statistically significant difference in the distribution of pathological types of breast cancer and proportion of patients with family history of breast cancer between the two groups （ P 〈 0.01 ） . Among the resident pa- tients, 22 patients were found with gene mutation, accounting for 34. 4%, five loci of BRCA1 gene mutation existed; among the migrant pa- tients, 54 patients were found with gene mutation, accounting for 39. 1% , four loci of BRCA1 gene mutation existed, there was statistically significant difference in the incidence of BRCA1 gene mutation between the two groups （ P 〈 O. 05 ） ; there were three similar loci of gene mu- tation in the two groups. Logistic regression analysis indicated that the incidence of breast cancer was correlated with positive family history, regional difference, and gene mutation. Conclusion： There was difference in the incidence of BRCA1 gene mutation and mutant loci between resident patients and migrant patients, which may be the causes inducing differences of onset age and pathological types between the two groups.