Expert Reviewed By: Dr. Brandon Colby MD
Understanding Epithelial Ovarian Cancer
Epithelial ovarian cancer is the most common type of ovarian cancer, accounting for approximately 90% of all cases. It originates in the epithelial cells that cover the surface of the ovary and can be further classified into several subtypes, such as serous, endometrioid, mucinous, and clear cell carcinomas. Despite advances in treatment, epithelial ovarian cancer remains the deadliest gynecologic malignancy, often due to late diagnosis and the development of drug resistance.
Diagnosing Epithelial Ovarian Cancer
Diagnosis of epithelial ovarian cancer typically involves a combination of physical examination, imaging studies, blood tests, and biopsy. However, recent research has highlighted the importance of genetic testing for women diagnosed with this disease. According to the ASCO guideline, genetic testing can help identify susceptibility genes and offer FDA-approved treatments tailored to the patient's genetic profile. This personalized approach to treatment has the potential to improve outcomes for women with epithelial ovarian cancer.
Genetic Testing for Epithelial Ovarian Cancer
Genetic testing for epithelial ovarian cancer can be divided into two main categories: germline testing and somatic tumor testing. Germline testing analyzes the DNA in a patient's blood or saliva to identify inherited gene mutations that increase the risk of developing ovarian cancer. Somatic tumor testing, on the other hand, examines the DNA within the tumor itself to identify genetic alterations that may be driving the cancer's growth and progression.
Germline Testing
Germline testing is particularly important for women with a family history of ovarian or breast cancer, as they may carry mutations in the BRCA1 or BRCA2 genes that significantly increase their risk of developing these cancers. A study comparing BRCA genetic testing and treatment with PARP inhibitors found that elderly and non-elderly women with non-mucinous epithelial ovarian cancer can benefit from this targeted therapy, which is specifically designed to exploit the DNA repair deficiencies caused by BRCA mutations.
Somatic Tumor Testing
Somatic tumor testing can provide valuable information about the genetic alterations present in a patient's cancer, which may have implications for treatment. A study analyzing genetic alterations in ovarian carcinomas highlighted the complexity and differences among histologies and suggested the potential for combinations of targeted therapies to improve treatment outcomes. Another study investigating associations between somatic mutations and clinicopathological characteristics in epithelial ovarian cancer suggested that molecular profiling could serve as a novel stratification method for this disease.
Using Genetic Testing to Inform Treatment
Genetic testing can play a crucial role in guiding treatment decisions for women with epithelial ovarian cancer. By identifying specific genetic alterations, healthcare providers can recommend targeted therapies that are more likely to be effective and may have fewer side effects than traditional chemotherapy.
Targeted Therapies
Targeted therapies are designed to attack specific genetic alterations or molecular pathways that drive cancer growth. For example, PARP inhibitors are a class of targeted therapy that has shown promise in treating women with BRCA-mutated epithelial ovarian cancer. Other targeted therapies, such as angiogenesis inhibitors and immune checkpoint inhibitors, are also being investigated for their potential to improve outcomes in this patient population.
Combination Therapies
Due to the complexity and heterogeneity of epithelial ovarian cancer, combination therapies that target multiple genetic alterations or molecular pathways may be necessary to achieve optimal treatment outcomes. Ongoing research is exploring the potential of combining targeted therapies with traditional chemotherapy, as well as with other targeted agents, to overcome drug resistance and improve survival rates for women with this aggressive disease.
Conclusion
Genetic testing is a powerful tool that can help healthcare providers better understand, diagnose, and treat epithelial ovarian cancer. By identifying specific genetic alterations, germline and somatic tumor testing can guide the selection of targeted therapies and inform the development of novel treatment strategies. As our understanding of the genetic landscape of epithelial ovarian cancer continues to evolve, it is essential to integrate genetic testing into clinical practice to improve outcomes for women affected by this deadly disease.
About The Expert Reviewer
Dr. Brandon Colby MD is a US physician specializing in the personalized prevention of disease through the use of genomic technologies. He’s an expert in genetic testing, genetic analysis, and precision medicine. Dr. Colby is also the Founder of and the author of Outsmart Your Genes.
Dr. Colby holds an MD from the Mount Sinai School of Medicine, an MBA from Stanford University’s Graduate School of Business, and a degree in Genetics with Honors from the University of Michigan. He is an Affiliate Specialist of the American College of Medical Genetics and Genomics (ACMG), an Associate of the American College of Preventive Medicine (ACPM), and a member of the National Society of Genetic Counselors (NSGC)