Background
Germline mutations involving the BRCA1 or BRCA2 gene are seen in 8–15% of ovarian cancer. The recent years have witnessed a growing interest among clinicians and patients alike for ‘genetic testing’ for identification of deleterious mutations which are implicated in the cancer-forming process. Most studies in the literature have employed age of onset, a positive family history and serous histology as important criteria to recommend genetic counselling and testing as these are associated with the highest probability of detecting germline mutations.
Perspective
The probability of mutation detection in newly diagnosed patients of ovarian cancer is 8–22%. Not every mutation detected is of clinical significance. Moreover, the considerable costs and technical limitations of BRCA1/2 mutation analysis, and the potential risk of fostering additional psychological burden on all newly diagnosed cancer patients, make a strong case to subject only a select high-risk group of ovarian cancer patients to genetic counselling and further testing. BRCA1/2 is emerging as an important predictive biomarker for ovarian cancer.
Conclusion
As opportunities to detect genetic mutations expand, we must alert ourselves to the risks and potential benefits of exploring such opportunities. While PARP inhibitors are an exciting new treatment for ovarian cancers, the efficacy is not restricted only to germline BRCA-mutated patients. The scientific evidence available today, for germline testing in all ovarian cancer patients at best, can be considered speculative.