Two tSNPs in BRIP1 are associated with breast cancer during TDT analysis

Objectives: This study aimed to investigate and confirm the association between 15 single nucleotide polymorphisms of four susceptibility genes (NBS1, TP53, PTEN, and BRIP1) and the susceptibility of breast cancer. Methods: The genome DNA was extracted from peripheral blood and tumor tissues from one hundred and seventeen core families. 15 SNPs were detected by PCR. The transmission disequilibrium test (TDT) and the Hardy-Weinberg equilibrium (HWE) are used to verify the association between these SNPs and breast cancer. Further correlation between SNPs and certain pathological features of the tumor, including tumor size, location of lymph nodes, pathologic classification, and the stage and subtype of breast cancer, are analyzed by the chi-square test and logistic regression analysis. Results: Based on TDTs, two SNPs of rs7220719 and rs11871753 in BRIP1 showed a significant association with breast cancer, while the other 13 selected SNPs did not. However, further statistical analysis demonstrated no obvious differentiation in the clinical characteristics of breast cancer between 37 patients with rs7220719 and 80 patients with wild types. Similar results were also found for rs11871753. Conclusions: The data provided the evidence for the association between two SNPs of BRIP1 and breast cancer, but did not affect certain clinical phenotypes.

Automated summary

This study found an association between two SNPs of the BRIP1 gene and breast cancer, without affecting specific clinical phenotypes.