1Department of Oncology, Guihang Guiyang Hospital, Guiyang 550006, Guizhou, China; 2Department of Oncology, the First Affiliated
Hospital of Guizhou University of Traditional Chinese Medicine, Guiyang 550001, Guizhou, China
Abstract：Objective To observe the mutation of single nucleotide polymorphism (SNP) in the functional region of CHEK2 gene in
triple⁃negative breast cancer (TNBC). Method We Collected wax slices of pathological tissues of 40 TNBC patients who were diagnosed
in Guihang Guiyang Hospital and The First Affiliated Hospital of Guizhou University of Traditional Chinese Medicine from December 2017
to January 2020, and then selected 24 sites on the CHEK2 gene, which is more related to TNBC, and used paraffin DNA extraction. The
extraction kit extracts DNA from wax slices of pathological tissues and then undergoes methylation treatment. Use the primer design software
PyroMark Assay Design 2.0 to design the primer sequence. After polymerase chain reaction amplification, the candidate SNP sites of the
CHEK2 gene functional region are detected by pyrosequencing detection method, and the mutations of the SNP sites are analyzed. Finally,
the pyrosequencer comes with the Pyro Q⁃AQ software automatically analyzes the base ratio of each site. Result The 24 SNP sites on the
CHEK2 gene of 40 TNBC patients were detected. Among them, D82A and E79G have repeated structures in the sequence, and no qualified
primers were designed, so they were not tested. The results showed that the first four mutation frequencies and sample sizes were K131N,
K142E, P152S and T366FS, respectively. Among them, K131N, K142E and P152S belong to the fork⁃head related region, while T366FS
belongs to the kinase region. The sites where no mutations were detected were T59K, I157T, 1100delC, E394K, Y424C and R475FS.Most
samples at R145W site have no mutations, a small number of samples have obvious mutations, and the mutation rate of other sites is low.
Conclusion In patients with TNBC, the four loci with higher mutation frequency of CHEK2 gene are K131N, K142E, P152S and T366FS.
1柯龙珠，2唐东昕，2冷福玉，1陈杰，1刘杰，1罗莉. CHEK2基因SNP位点在三阴性乳腺癌中的突变分析研究[J]. 肿瘤代谢与营养电子杂志, 2022, 9(2): 234-240.
1Ke Longzhu, 2Tang Dongxin, 2Leng Fuyu, 1Chen Jie, 1Liu Jie, 1Luo Li. Mutation analysis of the SNP site of CHEK2 gene in triple‑negative breast cancer. Electron J Metab Nutr Cancer, 2022, 9(2): 234-240.
