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目的观察新疆维吾尔族、汉族妇女早发性乳腺癌BRCA1相互作用蛋白1(BRIP1)基因外显子突变情况。方法直接测序法检测新疆维吾尔族与汉族妇女早发性乳腺癌(年龄30~40岁,各80例)BRIP1基因外显子区域。结果 (1)维族:rs4986765的基因型分布在孕激素受体阳性、阴性间比较差异有统计学意义(P<0.05)。rs4986764、rs4986763与Ki-67有一定相关性(均为),其突变型携带者可分别增加乳腺癌中Ki-67≥15%型发病风险(OR=9.000)。rs4986764、rs4986763在有、无恶性肿瘤家族史组间比较,差异有统计学意义(均为P<0.01)。rs4986764、rs4986763基因型分布在初潮年龄<14岁、≥14岁组间比较,差异有统计学意义(均为P<0.05),初潮年龄≥14岁的乳腺癌突变型携带率高于初潮年龄<14岁。(2)汉族:BRIP1基因rs4986765、rs4986764、rs4986763位点基因型分布与所研究的临床病理特征均无统计学意义(P>0.05)。结论在新疆维吾尔族早发性乳腺癌中,BRIP1基因多态性与初潮年龄、恶性肿瘤家族史、孕激素受体、Ki-67有相关性;但汉族早发性乳腺癌无相关性。
Objective To observe the exon mutations of BRCA1 interacting protein 1 (BRIP1) gene in early stage of breast cancer in Uygur and Han nationality in Xinjiang Uygur Autonomous Region. Methods Direct sequencing was used to detect the exon region of BRIP1 gene in early-onset breast cancer (aged 30-40 years, 80 cases) in Uygur and Han nationality in Xinjiang. Results (1) Uygur: rs4986765 genotype distribution in the progesterone receptor positive and negative differences were statistically significant (P <0.05). rs4986764, rs4986763 and Ki-67 have some correlation (both), their mutant carriers can increase the risk of Ki-67≥15% in breast cancer (OR = 9.000). rs4986764, rs4986763 in the presence of family history of malignant tumors, the difference was statistically significant (P <0.01). rs4986764, rs4986763 genotype distribution in menarche age <14 years, ≥ 14 years old group, the difference was statistically significant (both P <0.05), the age of menarche ≥14 years of breast cancer mutation carrying rate higher than the menarche age < 14 years old. (2) Han nationality: There was no significant difference in the genotype distribution of rs4986765, rs4986764, rs4986763 locus between the BRIP1 gene and the clinicopathological features studied (P> 0.05). Conclusion The polymorphism of BRIP1 gene is closely related to the age of menarche, the family history of malignant tumor, progesterone receptor and Ki-67 in Uygur early-onset breast cancer. However, there is no correlation between BRIP1 gene polymorphism and early-onset breast cancer in Han nationality.