|
|
|
| Analysis of germline mutation of 32 patients with triple negative breast cancer by whole exome sequencing |
| 1. Gansu Provincial Maternity and Child Health Care Hospital, Lanzhou, Gansu Province, 730050；2. National Research Institute for Family Planning |
|
|
|
|
Abstract To investigate the susceptibility gene mutation of patients with triple negative breast cancer (TNBC) by whole exome sequencing (WES). Method: 32 patients with TNBC admitted to Gansu provincial maternity and child health care hospital were confirmed by clinical surgery and pathology. Genomic DNA was extracted from the patients' peripheral blood for WES, and the sequencing data were analyzed by bioinformatics to screen for susceptibility gene variations related to breast tumors. Results: Among the 32 patients, the rare variants of BRCA1/2 were detected in 14 cases, which included 6 cases with pathogenic variants and likely pathogenic variants, with frequency of 18.8%. Among them, BRCA1: C. 5468-1_5474del and C. 4749_4750del were the common mutations, BRCA2: c.6027A>C was novel variant, and BRCA2：c.3794G>T、c.7901T>A， BRCA1：c.4616T>C were the first reported in Chinese patients. In addition to BRCA1/2, 83 breast tumor susceptibility gene variants were detected in 32 cases by WES, with approximately 2.6 variants per patient. The breast cancer susceptibility genes carried by more than 2 patients include: ALK, APC, CDH1, PTCH2, RB1CC1, RAD51D, RAD54L, TSC1, etc. Conclusion: BRCA1/2 is the most prevalent susceptibility gene of patients with TNBC, and other gene variants related to DNA damage repair may be correlated with the phenotype of TNBC patients.
|
|
|
|
|
|
|
|
|
