Open AccessTwo tSNPs in BRIP1 are associated with breast cancer during TDT analysis
Author(s) -
Li Xuefei,
Li Zhuo,
Yang Miao,
Luo Yan,
Hu Li,
Xiao Zhi,
Huang Aji,
Huang Juan
Publication year - 2021
Publication title -
molecular genetics and genomic medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.765
H-Index - 29
ISSN - 2324-9269
DOI - 10.1002/mgg3.1578
Subject(s) - single nucleotide polymorphism , breast cancer , medicine , cancer , oncology , genotype , biology , genetics , gene
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.