Next-generation sequencing-based analysis of homologous recombination repair gene variant in ovarian cancer.

BACKGROUND

Ovarian cancer is the leading cause of death from gynecological malignancies. Investigating the HRR-related gene status, notably in different regions and populations is of great significance for formulating accurate target therapy.

METHODS

We collected 124 ovarian cancer cases from the Affiliated Hospital of.Qingdao University, detected the genomic alteration of 32 genes by NGS, including.19 HRR-related genes, 9 proto-oncogenes and 4 tumor suppressor genes. Clinicopathological characteristics, variants, clinical significance, and correlation with prognosis were analyzed.

RESULTS

The incidence of HRR-related gene mutation was 59.68 % and no statistical significance was found with multiple clinicopathological characteristics. (27.42 %) were the most frequent mutated HRR genes. 23 (18.55 %) cases harbored g mutation, with all mutations were pathogenic/likely pathogenic and 2 cases of mutation was variant of uncertain significance. Somatic mutations were found in 12 (9.68 %) cases, and s had a higher frequency in less common ovarian cancer than high-grade serous carcinoma. HRR-related gene mutation status was associated with better prognosis than HRR wild-type.

CONCLUSIONS

Somatic mutation has higher incidence in less common ovarian cancer. HRR gene mutation status is an independent prognosis factor in ovarian cancer. Clarifying the HRR gene status is important for the selection of target therapy as well as the evaluation of prognosis.