How can genetic testing help identify women at higher risk of ovarian cancer

Do you know that ovarian cancer is sometimes referred to as a silent disease because its symptoms are not easily visible and sometimes even overlooked by patients? Certain symptoms of ovarian cancer, such as frequent urination, feeling full, abdominal discomfort, or bloating, can feel normal in the beginning. Still, when they become consistent, patients should not ignore them. Various factors influence the risk of ovarian cancer, including family history and age. Genetics can also reveal if a particular person is vulnerable to developing ovarian cancer. Because genetic testing can detect inherited changes in our DNA, it can help women understand their cancer risk earlier and seek treatment accordingly.

Understanding the link between genes and ovarian cancer

Genes contain instructions that help the body grow, function, and repair damaged cells. Changes in these genes can also affect the body’s ability to prevent abnormal cells from growing, which can later lead to cancer. These are hereditary genetic changes. Genes associated with ovarian cancer include BRCA2 and BRCA1. These genes help repair damaged DNA. Any inherited gene can affect the ability of the body to repair DNA, resulting in ovarian cancer. These genes also depend on a person’s family background and medical history.

How can genetic testing help?

Genetic testing examines DNA from saliva or blood samples to look for genetic changes linked to increased disease risk. Ovarian cancer tests include BRCA1, BRCA2, and other genes linked to hereditary cancer, based on clinical recommendation. Genetic testing examines DNA, usually from a blood or saliva sample, for specific genetic changes associated with an increased risk of disease. When assessing ovarian cancer risk, the test may include BRCA1, BRCA2, and other genes linked to hereditary cancer, depending on clinical recommendation.

Here is how it can help:

1. Identifying inherited risk before cancer develops

The advantage of genetic testing is that it can identify women with no symptoms, the risk of many harmful genetic changes, and the potential to develop cancer. For instance, a thorough assessment through genetic testing can help a sister or a mother identify ovarian cancer risk. If testing finds an inherited variant, the woman should consult an expert immediately to reduce her risk. This matters because early-stage cancers often have no or few symptoms.

2. Understanding the importance of family history

An inherited genetic risk signifies cancer that’s running across generations and has affected several blood relatives. A thorough genetic counseling session should be done by women with their doctor if there is any family history of any form of prostate cancer, pancreatic cancer, male breast cancer, breast cancer, or ovarian cancer at a young age. Moreover, family history should include relatives on both the paternal and maternal sides. Cancer risks don’t see gender, and they can be inherited from any of your biological parents or their families. However, having no cancer history does not rule out inherited risk. It can all be figured out through medically appropriate genetic testing.

3. Helping doctors plan risk-reduction strategies

The long-term advantage of genetic testing is that it can help doctors decide if a woman requires further preventive measures, specialist consultations, or additional monitoring. If any woman carries high-risk genetic changes, doctors can consider risk-reducing surgeries, including the removal of fallopian tubes and ovaries, after considering factors such as individual circumstances, reproductive plans, and most importantly, age. The surgery also has an impact on infertility when performed before natural menopause. Therefore, careful counseling before, during, and after surgery is essential. In this context, no ovarian cancer screening test has been proven. Transvaginal ultrasound and CA-125 can be used in certain situations, but they are not reliable for risk assessment.

4. Providing useful information for family members

Genetic testing is useful not only for the person being tested but also for their family. For example, if a woman is diagnosed with a harmful inherited genetic variant, then it gives awareness to her other family members or biological relatives that they may also carry the same variant. It helps families identify shared risks and make informed health decisions.

What does a genetic test result mean?

Whenever an expert performs a genetic test, it can lead to three paths:

1. Positive result: The test identifies a genetic variant.
2. Negative result: The test finds no harmful variant. The test’s scope and family history may still leave some uncertainty, but it doesn’t identify a major risk.
3. Variant of uncertain significance: This means they are not sure whether this genetic change increases cancer risk. Further diagnosis is required.

When should women consider genetic counseling?

If a woman has a personal or family history that suggests hereditary cancer risk, they should immediately consult with their healthcare provider. It becomes even more important when related cancers, breast cancer or ovarian cancer risks, are present in the family. The woman should keep a record of which relatives have cancer; their age or diagnosis can help doctors assess whether testing or genetic counseling may be appropriate. Several unusual or persistent symptoms should not be ignored by women, such as changing urinary habits, feeling full or facing difficulties while eating, abdominal pain, pelvic pain, and ongoing bloating. All of these symptoms don’t signify cancer directly, but persistent symptoms need medical evaluation. Still, it can help identify a woman’s inherited risk and allow her, her family, and healthcare providers to make informed decisions about prevention and treatment.