Xiangya School of Medicine, Central South University, Changsha, China.
Center for Medical Genetics & Hunan Key Laboratory of Medical Genetics, School of Life Sciences, Central South University, Changsha, China.
Mol Genet Genomic Med. 2021 Feb;9(2):e1578. doi: 10.1002/mgg3.1578. Epub 2021 Jan 5.
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.
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.
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.
The data provided the evidence for the association between two SNPs of BRIP1 and breast cancer, but did not affect certain clinical phenotypes.
本研究旨在探讨并证实四个易感性基因（NBS1、TP53、PTEN 和 BRIP1）的 15 个单核苷酸多态性与乳腺癌易感性之间的关联。
从 117 个核心家族的外周血和肿瘤组织中提取基因组 DNA。通过 PCR 检测 15 个 SNP。采用传递不平衡检验（TDT）和哈迪-温伯格平衡（HWE）验证这些 SNP 与乳腺癌之间的关联。通过卡方检验和逻辑回归分析进一步分析 SNP 与肿瘤某些病理特征之间的相关性，包括肿瘤大小、淋巴结位置、病理分类以及乳腺癌的分期和亚型。
基于 TDTs，BRIP1 中的两个 SNP rs7220719 和 rs11871753 与乳腺癌显著相关，而其他 13 个选定的 SNP 则没有。然而，进一步的统计分析表明，rs7220719 组的 37 名患者与野生型组的 80 名患者之间，乳腺癌的临床特征没有明显差异。rs11871753 也有类似的结果。
数据提供了 BRIP1 的两个 SNP 与乳腺癌之间关联的证据，但不影响某些临床表型。
