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目的探讨非家族性青年三阴性乳腺癌(TNBC)与BRCA1基因突变的关系以及突变者与未突变者的临床病理组织特征的差别。方法应用PCR扩增联合DNA直接测序法检测新疆地区50例非家族性青年TNBC患者BRCA1基因突变情况,同时对比分析突变者与未突变者的临床病理组织特征。结果 1 50例非家族性青年TNBC患者BRCA1突变率为26%(13/50),其中汉族高于少数民族(27.6%vs23.8%),但差异无统计学意义(χ2=1.599)。2 50例非家族性青年TNBC患者中发现13例BRCA1突变的12个位点,其中4个为新发现的位点;2个BRCA1基因突变“热点”;3 50例非家族性青年TNBC BRCA1突变者与未突变者相比,腋窝淋巴结转移率高(69.2%vs 35.1%),TNM分期晚(77%vs 37.8%),差异均有统计学意义(P<0.05)。结论新疆地区非家族性青年TNBC患者BRCA1基因突变率高;212+1G>T和2077G>A可能为新疆地区非家族性青年TNBC患者遗传易感位点,尚需扩大样本进一步研究;突变者与未突变者相比,存在临床病理组织差异。
Objective To investigate the relationship between TNBC and BRCA1 gene mutation in non-familial young adolescents and the clinicopathological features of those with or without mutations. Methods PCR amplification combined with DNA direct sequencing was used to detect the mutation of BRCA1 gene in 50 non-familial young TNBC patients in Xinjiang. The clinicopathological features of the mutant and non-mutant were analyzed. Results The mutation rate of BRCA1 was found in 50% of non-familial youth TNBC patients. The prevalence of BRCA1 mutation in Han nationality was higher than that of ethnic minorities (27.6% vs 23.8%), but the difference was not statistically significant (χ2 = 1.599). Twelve of 13 BRCA1 mutations were found in 50 non-familial youth TNBC patients, including 4 newly found loci, 2 BRCA1 mutations “hot spots”, and 3 50 non-familial youth TNBCs The rate of axillary lymph node metastasis (69.2% vs 35.1%) and TNM stage (77% vs 37.8%) were significantly higher in patients with BRCA1 mutation than those without mutation (P <0.05). Conclusion The mutation rate of BRCA1 gene in non-familial young TNBC patients in Xinjiang is high. 212 + 1G> T and 2077G> A may be genetic predisposition sites for non-familial young TNBC patients in Xinjiang. However, There is a difference in clinicopathological tissue between non-mutants.