Mutations In ZNF350Gene Of Early-onset Breast Cancer In Xin Jiang Uygur Women

Objective:To investigate the mutations of ZNF350gene in its recognition sequence of Xinjiang Uygur women with early onset breast cancer.Method:80cases of Uygur early-onset breast cancer patients were identitified by collectting clinical information and blood specimens, exon and flanking sequences were analysised by direct sequencing, Non-synonymous and synonymous variants were predicted for functional change, analyze the relationship between genotypes and pathological features.Results:Three nsSNP (c.197T> C, c.1414T> C, c.1503A> T) and one missense mutation (c.111G>A) were identitified, of which, there is a significant association between Arg501Ser polymorphism and estrogen receptor (ER) status.Conclusion:Four missense variants were identified of ZNF350gene in Uygur patients with early-onset breast cancer, c.111G>A and c.1503A>T polymorphisms may affect the protein function of ZNF350, Arg501Ser polymorphism may be associated with clinical response to chemotherapy of breast cancer.