Surgical Department of Breast, Head and Neck Surgery, The Third Clinical Medical College of Xinjiang Medical University (The Affiliated Tumor Hospital), No. 789, Suzhou East Street, Urumqi, 830011, Xinjiang, China.
BMC Med Genomics. 2021 Jan 6;14(1):7. doi: 10.1186/s12920-020-00862-2.
This study is to explore the relationship between the ZBRK1/ZNF350 (Zinc finger and BRCA1-interacting protein with KRAB domain-1; also known as zinc-finger protein 350) gene polymorphism and early-onset breast cancer.
The ZBRK1/ZNF350 gene exon detection analysis was performed with the direct sequencing and Snapshot methods in 80 cases of breast cancer (aged ≤ 40 years old) and 240 healthy subjects (aged ≤ 40 years old).
Totally 9 sequence variants were detected, including 5 missense mutations and 4 synonymous mutations, located at EXON3, EXON4 and EXON5, respectively. The rs4987241 and rs3764538 variants were published for the first time, while the remaining variants had been reported before. There were significant differences in the frequency distribution of family history between the breast cancer and control groups. Moreover, there were significant differences in the CT genotype frequency at the rs138898320 locus between the breast cancer and healthy control groups. Compared with the carriers of CC wild genotype at rs138898320, the risk of breast cancer was reduced by 88.3% in the CT mutant genotype carriers, with significant difference. In the stratification with no family history, compared with the carriers of CC wild genotype at rs138898320, significant differences were observed for the CT mutant genotype carriers. In the stratification with family history, there was no significant difference in the variation of rs138898320.
The rs138898320 CT mutation genotype of ZBRK1/ZNF350 may reduce the risk of breast cancer, and the protecting effect would be increased in the stratification with no family history. Trial registration Not applicable.
本研究旨在探讨 ZBRK1/ZNF350（锌指和 BRCA1 相互作用蛋白与 KRAB 结构域-1；也称为锌指蛋白 350）基因多态性与早发性乳腺癌的关系。
采用直接测序和 Snapshot 法对 80 例乳腺癌（年龄≤40 岁）和 240 例健康对照者（年龄≤40 岁）的 ZBRK1/ZNF350 基因外显子进行检测分析。
共检测到 9 种序列变异，包括 5 种错义突变和 4 种同义突变，分别位于 EXON3、EXON4 和 EXON5。rs4987241 和 rs3764538 变异为首次报道，其余变异均有报道。乳腺癌组与对照组家族史的频率分布存在显著差异。此外，rs138898320 位点 CT 基因型频率在乳腺癌组与健康对照组之间存在显著差异。与 rs138898320 位点 CC 野生基因型携带者相比，CT 突变基因型携带者的乳腺癌发病风险降低了 88.3%，差异有统计学意义。在无家族史的分层中，与 rs138898320 位点 CC 野生基因型携带者相比，CT 突变基因型携带者差异有统计学意义。在有家族史的分层中，rs138898320 变异无统计学意义。
ZBRK1/ZNF350 基因 rs138898320 的 CT 突变基因型可能降低乳腺癌的发病风险，且在无家族史的分层中，保护作用增强。
无。
