The AY751490 Haplotype Of BRCA1 Gene And Its Relationship With The Genesis And Prognosis Of Breast Cancer

OBJECTIVE:To study the AY751490 haplotype of BRCA1 gene and its relationship with the genesis and prognosis of breast cancer.METHODS:First,Blood samples were collected from 109 breast cancer patients and 116 healthy female.DNA was respectively abstracted from aforementioned samples.Meanwhile,a simple sequence-specific primer PCR(PCR-SSP) method was established according to AY751490 haplotype.This PCR-SSP test was used to detect the AY751490 haplotype of BRCA1 gene.Finally,several clinicopathologic features,including tumor size,lymph node metastasis,TNM staging,ER/PR status,HER-2 and p53 protein ect,were compared in different genotypes of patients.The results were statistically analyzed.RESULTS:(1) The frequencies of AY751490 haplotype were higher in patients with breast cancer compared with controls(67.8%,74/109 vs.54.3%,63/116,P=0.04);Further analysis indicated that the frequencies of AY751490 homozygote in breast cancer patients were significantly higher than those in control group(21.1%,23/109 vs.10.3%,12/116,P=0.01).This result suggested that the homozygote of AY751490 is closely associated with the breast cancer incidence.(2) With the advance of age,the frequency of AY751490 haplotype showed a decreased trend.This haplotype carrier frequency was remarkable higher in≤35 group than in >55 group(x~2=4.66,P=0.04).(3) 8 of 109 with a family history of breast cancer.The AY751490 heterozygote carriage rate of patients of positive family history group was higher than that of negative family history group(P=0.04).Preliminary result suggests that this haplotype has correlation with family history.(4) There is no significant correlation between the AY751490 haplotype and several clinicopathologic features,including tumor size,lymph node metastasis,TNM staging,ER/PR status,HER-2 and p53 protein ect(P>0.05).CONCLUSION:These findings suggest that the homozygote of AY751490 haplotype is closely associated with pathogenesis of breast caner.The PCR-SSP test which was used to detect the AY751490 homozygote has an important significance for the early diagnosis and risk assessment of breast cancer.Above results provide experimental foundation and theoretical basis for screening of breast cancer.Individuals with AY751490 haplotype have a character of earlier onset age and patients with family history have a higher carrying rate of AY751490 haplotype. However,no evidence was found to support that it was an independent prognostic marker in breast carcinoma.