Association between zinc finger protein 350 gene polymorphism and early onset breast cancer among women from different ethnic groups in Xinjiang

Abstract

Objective To detect the variants of zinc finger protein 350 (ZNF350) gene in exon of Xinjiang women with early onset breast cancer, and investigate the relationship between Polymorphism and the early onset breast cancer of women. Methods Exon region of ZNF350 gene are detected via direct sequencing in Xinjiang minority and Han nationality women with early onset breast cancer (age: 30-40 years old, separately 80 cases), The impact of Non-synonymous variants on protein function are predicted by using Polyphen and SIFT software, and then analyzing the relationship between Polymorphism genotypes and clinical pathological features. Results (1) The test results of ZNF350 gene exon region mutation: Nine mutations are detected (referring to database minimum allele frequency MAF>1% before the trial), including 5 missense mutations and 4 synonymous mutations, which located in EXON3, EXON4 and EXON5. Among them, the Uighur nationality are detected eight locus mutations, and the han nationality have seven locus mutations, which including 4 missense mutations respectively. (2) Using Polyphen and SIFT software to predict protein function: The result show that the common mutation sites rs4987241 and rs2278415 of minority and Han nationality patients with early-onset breast cancer are deleterious mutations, which may affect the ZNF350 protein function. (3) The relevance between distribution of polymorphic genotype and clinical pathological features: ① There is a certain correlation between rs4986773 and axillary lymph node status of breast cancer in minority (r=0.234, P 0.05). Conclusion Among early-onset breast cancer in Xinjiang women, there is a certain correlation between ZNF350 gene polymorphism and menarche age, tumor size, axillary lymph node status and triple-negative breast cancer, which can be used as one of the predictors to guide the early-onset breast cancer individualize treatment in Xinjiang women. Key words: Early-onset breast cancer; Zinc finger protein 350 gene; Single nucleotide polymorphism