For women who have been diagnosed with ovarian cancer, the questions that arise are those pertaining mostly to the possibility of surgery, chemotherapy, and chances of survival. However, another equally important query that is gaining prominence is: "What can the genetic composition of the tumour signify about its treatment?"
The genetic test is not only meant for detecting if one has a risk of developing cancer through genetics. It also plays an important role in detecting the way the tumour will behave and if there are any chances that they would benefit from a particular treatment plan.
Why Is Genetic Testing Important In Ovarian Cancer?
Ovarian cancer is not a monogenic condition. Different tumours show diverse molecular features which will have a bearing on the decision-making process concerning their treatment.
One of the most significant genetic abnormalities that can be found concerns two genes named BRCA1 and BRCA2. These genes are responsible for the repair of damaged DNA. Mutations that cause harm to the functioning of those genes may lead to the inability of cancer cells to restore DNA damages.
A genetic test may be done to identify germline mutations (mutations that are present all over the body), while a tumour test will identify somatic mutations (those mutations which were acquired during the development of the tumour). The type of the test depends on many factors and thus may vary. It may also affect not only the patient, but family members as well. If a germline mutation is found, members of the family may also have to undergo tests and counselling.
From Genetic Finding To Targeted Treatment
This is where the genetic information could impact therapy. PARP inhibitors are targeted drugs that take advantage of defects in the DNA repair system in cancer cells. If a tumour has a BRCA mutation or any other type of homologous recombination deficiency (HRD), then its DNA repair system is already defective. By inhibiting the second repair mechanism with a PARP inhibitor, the cancer cell becomes unable to live.
PARP inhibitors have revolutionized treatment of certain types of advanced epithelial ovarian cancer, especially in cases where a BRCA mutation exists. It has also been clinically proven that some cancers may not have BRCA mutations, but patients with HRD may still respond to such treatments.
Testing Is Extending Beyond BRCA
Although BRCA1 and BRCA2 genes are still a cornerstone of the genetics of ovarian cancer, nowadays, testing uses multigene panels. There are other genes associated with the risk of DNA damage and hereditary cancers that could show clinically significant variations as well. A study conducted on a group of patients diagnosed with hereditary breast and ovarian cancers in 2026 showed the presence of various gene alterations besides BRCA genes such as PALB2 and CHEK2 genes. This clearly shows that testing only for BRCA genes may fail to identify other gene alterations that could also be clinically important.
However, not all results from broad gene testing imply any change in treatment. Some mutations could be of uncertain clinical significance while other gene mutations would only imply risk of developing cancer but not the treatment of the present cancer case.
What Patients Need To Know
It should be clear to the patients that the genetic testing isn't about predicting their future. Rather, it is a way to add another level of knowledge that can aid in personalisation of their treatment.
Based on the result, the oncology team can choose between maintenance therapy, targeted treatment, genetic counselling for the family members. It will help the oncologist understand whether the patient's tumour contains some unique features that could be beneficial for its treatment. Most importantly, the testing should be considered at an early stage of the treatment, not when other treatment possibilities have already been tested and ruled out. The approach to ovarian cancer treatment becomes more personalised. The surgery and chemotherapy continue to be a key component of the treatment plan, but knowing the features of the tumour can help the doctors choose the next step.
So, genetic testing in the case of some women can become a tool that gives much more information about the tumour beyond the diagnosis, namely, which type of treatment will work best in this case.
(By Dr Shruthi Shivdas, Consultant Gynecologic Oncologist, HCG Cancer Hospital, Hebbal)
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