Genetics and ovarian cancer: Risks and reality
Ovarian cancer is challenging due to late-stage detection. Understanding genetic risk factors and family history can aid in earlier diagnosis.
Cancer is a disease in which some of the body's cells grow uncontrollably and spread to other parts of the body. While many forms of cancer can be detected at an early stage, ovarian cancer often goes unnoticed until it has reached advanced stages, making treatment more challenging. However, understanding genetic risk factors associated with ovarian cancer can lead to earlier diagnosis, improving treatment outcomes.


Is Genetics The Only Culprit?
Genetic mutations that can lead to ovarian cancer account for only 15-20% of cases. Some of the other risk factors include:
- Hormonal: excessive estrogen exposure.
- Lifestyle factors: A sedentary lifestyle & obesity contribute to a higher risk of ovarian cancer
- Random chance: So, genetics is not the only one to be blamed.
Reid BM, Permuth JB, Sellers TA. Epidemiology of ovarian cancer: a review. Cancer Biol Med. 2017 Feb;14(1):9-32. doi: 10.20892/j.issn.2095-3941.2016.0084. PMID: 28443200; PMCID: PMC5365187.
How To Know The Genetic Risk?
When considering the genetic risk for ovarian cancer, we have to look at our family tree to identify if any of our close blood relatives (sister, mother, grandmother) or any of the first- or second-degree cousins have been diagnosed with this cancer. If you find a patient in there, you are at a higher risk of getting this disease compared to the general population.
What If I Have A Family History?
The best approach is to contact a gynecologic oncologist. There are certain guidelines for testing under such circumstances. Not everyone needs to be tested for genetic risk. Often, such testing is combined with pre- and post-testing genetic counselling and must be conducted by a geneticist. Such testing is not limited to ovarian cancer but can also be conducted for cancers of the breast, pancreas, and prostate.
Couples in the reproductive age group may face anxiety about passing such genes to the next generation. In such circumstances, preimplantation genetic testing is recommended.
What Are My Options If I Test Positive In Genetic Screening?
Again, your best bet is an appointment with a gynecologic oncologist. Modalities available to such individuals are:
- Non-Surgical Risk Reduction: Use of oral contraceptive pills for ovulation suppression and Levonorgestrel Intrauterine Device (IUD) have been shown to reduce the risk of ovarian cancer in average-risk women
- Surgical Risk Reduction: Involves removal of both fallopian tubes (salpingectomy) and ovaries (oophorectomy). The timing of surgery, early or delayed removal, depends on the genetic testing results.
Do Children Need Genetic Testing Too?
As per NCCN Guidelines, children under the age of 18 do not require genetic testing, as the results would not impact the medical management of such young patients.
Reference: NCCN Guidelines Version 3,2024 Ovarian cancer
Is There A Screening Test For Ovarian Cancer?
Unlike cervical cancer, there is no effective screening test for early detection of ovarian cancer; hence, for average and low-risk women, screening is not recommended. But in the case of high-risk women, transvaginal ultrasound, CA125, along with physical examination, can be done on a half-yearly basis. However, knowing about the symptoms, risk factors, and relevant genetic testing can provide a small edge against this cancer.
Should This Knowledge Increase My Anxiety?
No, a recent study in Britain dispelled the idea that promoting cancer knowledge increases anxiety. Such information has been found to reassure the public. It is important to empower individuals with knowledge to take charge of their health and be good advocates for themselves.

Inputs by Dr Satinder Kaur, Director of Gynae Oncology at Max Super Speciality Hospital, Vaishali.
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