Association Of The Single Nucleotide Polymorphism Of Notch Gene With Susceptibility To The Breast Cancer And Hyperplasia Lesions

objective to explore the relevance between the polymorphisms of the Notch1 gene and breast invasive ducal carcinoma and ducal hyperplasia lesions.Methods:The polymorphisms of Notch1 gene in human breast invasive ducal carcinoma (IDC; n=100), ducal carcinoma in situ (DCIS; n=50) and usual ducal hyperplasia (UDH; n=100) were quantitative detected by MALDI-TOF MS.Results:①In breast cancer,ducal carcinoma in situ and usual ducal hyperplasia there are TT,TC and CC genotype were found in Notchl rs3124591,The frequencies of Notchl rs3124591 genotypes and alleles were not significantly different in three groups of breast lesions pair wise comparisons, respectively (P>0.05).②Only TT and TC genotype were found in Notch2 gene rs11249433, The frequencies of Notch2 rs11249433 genotypes and alleles were not significantly different in three groups of breast lesions pair wise comparisons, respectively (P>0.05).③rs1043994 and rs3815188 polymorphic site of Notch3 gene locus have three genotypes,GG,GA,AA, genotype distribution among the three genotypes was no significant difference(P>0.05).④rs520692 polymorphic site of Notch4 gene has GA genotype and AA genotype in IDC group and DCIS group. There are GG genotype,GA genotype and AA genotype in UDH group. There are no significant differences between genotype and allele frequencies(P>0.05); rs520692 polymorphisms have GG genotype,GA genotype and AA genotype, There are no significant differences between genotype and allele frequencies (P>0.05); rs208283 gene locus have three genotypes,TT,TC,CC, genotype distribution between the three genotypes was no significant difference (x2=13.388, P=0.01). Allele T, C distribution frequency of lesions in the three groups had significant difference (x2=16.731, P=0.000), Three groups of breast lesions pair wise comparisons. Conclusions:①The Notchl gene polymorphisms were not associated with the high risk of breast cancer, The hypomethylation of Notchl maybe serves as important factors of Notchl protein expression;②The Notch2 and Notch3 gene polymorphisms were not associated with breast cancer risk..③The results suggested that the Notch4 TC,CC genotype and C allele are breast cancer and polymorphism are related to hormone levels.