Targeted Biological Therapy and Germline Mutation Prevalence in Advanced Ovarian Cancer Patients

Background: Ovarian cancer is one of the most lethal gynecological malignancies, often diagnosed at an advanced stage. The prognosis is generally poor, with high recurrence rates and limited long-term survival. Understanding the genetic and molecular mechanisms underlying ovarian cancer is crucial for improving early diagnosis, developing targeted therapies, and enhancing patient outcomes. Methods: In this study, the clinical molecular reports of 50 ovarian cancer patients referred to the experimental cancer unit at Herlev Hospital were analyzed. The aim was to assess the number of patients being potential candidates for targeted biological therapy. Additionally, using the reports, we aimed to identify patients with potential germline mutations in cancer-predisposing genes. The possible consequences were annotated using gene lists from four hospitals in Denmark. Each hospital had its own distinct, published gene list, reflecting the genes that it considered potential carriers of germline mutations predisposing to cancer. Results: A total of twenty out of fifty patients (40%) had targetable biomarkers for biological treatment. CCNE1 amplification was identified as the most frequent variant (43%). Seven out of fifty patients (14%) had potential germline mutations in cancer-predisposing genes. Conclusions: In conclusion, the finding of a potential germline mutation in the SMARCA4 gene highlights how differences in hospital-specific gene lists may impact patient referral for genetic counseling.