Association Study Of Different Breast Cancer-specific Molecular Subtype-associated Susceptibility Loci In Chinese Han Women

Background Breast cancer is a the mammary duct wall or mammary lobule cancer,the main clinical manifestations are breast mass,inverted nipple,overflow and erosion.It has highly lethal because of the late transfer easily and invasion of lung,liver and other organs.Breast cancer is the most invasive malignant tumor disease in women worldwide.The incidence and mortality of breast cancer are increasing every year in China.Breast cancer has become the leading cause of malignancy in Chinese females.Breast cancer can be divided into four subtypes:Luminal A,Luminal B,human epidermal growth factor receptor 2(HER2)amplified,and basal-like.These subtypes are significantly different in biological features,which implicate treatment and prognostic evaluation.The pathogenesis of breast cancer is very complex,and genetic factors play an important role in it.Recently,genome-wide association studies(GWAS)have discovered numerous risk-associated variants more than 90 common genetic susceptibility genes/loci for breast cancer.However,fewer than 30 loci have been validated in the Chinese Han population.These susceptibility genes / loci tend to be weakly correlated or uncorrelated in Chinese Han women.Few study of breast cancer-specific molecular subtypes in Chinese Han populations.In this study,we stratification analysis four molecular subtypes in order to identify the susceptibility genes / loci in different subtypes of breast cancer in Chinese Han women.Objective In this study,we stratification analysis susceptibility single nucleotide polymorphisms (SNPs)of breast cancer after 2013 discovered from other populations,in order to identify the susceptibility SNPs in different molecular subtypes of breast cancer in Chinese Han population.Method A total of 3036 female patients(2,935 samples matched molecular subtypes)suffering from breast cancer and 3036 healthy controls(female only)were recruited through collaborations with the No.1 Hospital and No.2 Hospital of Anhui Medical University in the province of Anhui.All cases have detailed clinical data.This study was approved by the Institutional Ethical Committee of Anhui Medical University and was conducted in accordance with the Declaration of Helsinki.We choose 32 candidate SNPs that were discovered from other populations after 2013 and using the Sequenom Mass Array platform.All of the statistics were analyzed using the SPSS 13.0 and Plink 1.07 software.Results Through a stratification analysis,5q11.2/MAP3K1(rs16886034,rs16886364,rs16886397,rs1017226,rs16886448)and 7q32.3/LINC-PINT(rs4593472)were associated with Luminal A,and 10q26.1/FGFR2(rs35054928)was associated with Luminal B.5q11.2/MAP3K1 and 7q32.3/LINC-PINT were first confirmed as specific molecular subtype for Chinese Han women.Conclusions This study shows that different molecular subtypes of breast cancer have different susceptibility genes / loci.Breast cancer-specific molecular subtype-associated susceptibility SNPs were confirmed in Chinese Han women,which contributes to a better genetic understanding of breast cancer in different subtypes.These specific subtype-associated SNPs are potentially meaningful for guiding clinical evaluation and therapy.