Retrospective evaluation of next generation sequencing analyses in patients with breast and ovarian cancer

The aim of this study is to investigate genetic alterations and their associations with the pathological characteristics of tumors in 317 patients diagnosed with breast and ovarian cancer. Data from patients analyzed by next-generation sequencing (NGS) were evaluated retrospectively. In the analysis performed using a hereditary cancer panel including 76 genes, only pathogenic and likely pathogenic variants were considered. In our study, pathogenic or likely pathogenic mutations in the BRCA1/BRCA2 genes were detected in 5.7% (16/281) of breast cancer patients; a similar frequency (5.7%; 16/281) of mutations was also observed in other breast cancer susceptibility genes. These frequencies are consistent with the current literature. In line with previous studies, the other genes found to be mutated in breast cancer patients were ATM, PALB2 and CHEK2. In ovarian cancer patients, pathogenic/likely pathogenic BRCA1/BRCA2 mutations were identified in 25% (9/36) of cases, and mutations in other genes were observed at a frequency of 5.5% (2/36). In conclusion, our study indicates that focusing solely on BRCA1/BRCA2 germline mutations in patients with breast and ovarian cancer is insufficient, and that analyzing additional associated genes using a hereditary cancer panel may provide more comprehensive insights. Keywords: breast cancer, ovarian cancer, next-generation sequencing, hereditary cancer panel.